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Volumn 38, Issue 7, 2016, Pages 1600-1621

Advances in Hereditary Colorectal and Pancreatic Cancers

Author keywords

familial gastrointestinal cancer; genetic testing; Lynch syndrome; multigene panel testing

Indexed keywords

EPITHELIAL CELL ADHESION MOLECULE; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 84961875813     PISSN: 01492918     EISSN: 1879114X     Source Type: Journal    
DOI: 10.1016/j.clinthera.2016.03.017     Document Type: Review
Times cited : (12)

References (150)
  • 2
    • 0037422027 scopus 로고    scopus 로고
    • Hereditary colorectal cancer
    • 2 Lynch, H.T., de la Chapelle, A., Hereditary colorectal cancer. N Engl J Med 348 (2003), 919–932.
    • (2003) N Engl J Med , vol.348 , pp. 919-932
    • Lynch, H.T.1    de la Chapelle, A.2
  • 3
    • 84922348460 scopus 로고    scopus 로고
    • Next-generation strategies for hereditary colorectal cancer risk assessment
    • 3 Yurgelun, M.B., Next-generation strategies for hereditary colorectal cancer risk assessment. J Clin Oncol 33 (2015), 388–393.
    • (2015) J Clin Oncol , vol.33 , pp. 388-393
    • Yurgelun, M.B.1
  • 4
    • 84904701595 scopus 로고    scopus 로고
    • Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer
    • 4 Giardiello, F.M., Allen, J.I., Axilbund, J.E., et al. Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology 147 (2014), 502–526.
    • (2014) Gastroenterology , vol.147 , pp. 502-526
    • Giardiello, F.M.1    Allen, J.I.2    Axilbund, J.E.3
  • 5
    • 58149144567 scopus 로고    scopus 로고
    • Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1
    • 5 Ligtenberg, M.J., Kuiper, R.P., Chan, T.L., et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1. Nat Genet 41 (2009), 112–117.
    • (2009) Nat Genet , vol.41 , pp. 112-117
    • Ligtenberg, M.J.1    Kuiper, R.P.2    Chan, T.L.3
  • 6
    • 33747871345 scopus 로고    scopus 로고
    • Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients
    • 6 Hampel, H., Frankel, W., Panescu, J., et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 66 (2006), 7810–7817.
    • (2006) Cancer Res , vol.66 , pp. 7810-7817
    • Hampel, H.1    Frankel, W.2    Panescu, J.3
  • 7
    • 0034011564 scopus 로고    scopus 로고
    • Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer
    • 7 Jarvinen, H.J., Aarnio, M., Mustonen, H., et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 118 (2000), 829–834.
    • (2000) Gastroenterology , vol.118 , pp. 829-834
    • Jarvinen, H.J.1    Aarnio, M.2    Mustonen, H.3
  • 8
    • 83955161674 scopus 로고    scopus 로고
    • Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
    • 8 Burn, J., Gerdes, A.M., Macrae, F., et al. Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet 378 (2011), 2081–2087.
    • (2011) Lancet , vol.378 , pp. 2081-2087
    • Burn, J.1    Gerdes, A.M.2    Macrae, F.3
  • 9
    • 30944457531 scopus 로고    scopus 로고
    • Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
    • 9 Schmeler, K.M., Lynch, H.T., Chen, L.M., et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354 (2006), 261–269.
    • (2006) N Engl J Med , vol.354 , pp. 261-269
    • Schmeler, K.M.1    Lynch, H.T.2    Chen, L.M.3
  • 10
    • 0025848680 scopus 로고
    • The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)
    • 10 Vasen, H.F., Mecklin, J.P., Khan, P.M., et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34 (1991), 424–425.
    • (1991) Dis Colon Rectum , vol.34 , pp. 424-425
    • Vasen, H.F.1    Mecklin, J.P.2    Khan, P.M.3
  • 11
    • 10744233937 scopus 로고    scopus 로고
    • Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability
    • 11 Umar, A., Boland, C.R., Terdiman, J.P., et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96 (2004), 261–268.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 261-268
    • Umar, A.1    Boland, C.R.2    Terdiman, J.P.3
  • 12
    • 4444328981 scopus 로고    scopus 로고
    • Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients
    • 12 Grover, S., Stoffel, E.M., Bussone, L., et al. Physician assessment of family cancer history and referral for genetic evaluation in colorectal cancer patients. Clin Gastroenterol Hepatol 2 (2004), 813–819.
    • (2004) Clin Gastroenterol Hepatol , vol.2 , pp. 813-819
    • Grover, S.1    Stoffel, E.M.2    Bussone, L.3
  • 13
    • 84964252246 scopus 로고    scopus 로고
    • ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes
    • quiz 263
    • 13 Syngal, S., Brand, R.E., Church, J.M., et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. quiz 263 Am J Gastroenterol 110 (2015), 223–262.
    • (2015) Am J Gastroenterol , vol.110 , pp. 223-262
    • Syngal, S.1    Brand, R.E.2    Church, J.M.3
  • 14
    • 84978214695 scopus 로고    scopus 로고
    • NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2015. . Accessed March 5, 2016.
    • 14 NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal. Version 2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. Accessed March 5, 2016.
  • 15
    • 57449097359 scopus 로고    scopus 로고
    • Feasibility of screening for Lynch syndrome among patients with colorectal cancer
    • 15 Hampel, H., Frankel, W.L., Martin, E., et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol 26 (2008), 5783–5788.
    • (2008) J Clin Oncol , vol.26 , pp. 5783-5788
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 16
    • 17944362664 scopus 로고    scopus 로고
    • Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)
    • 16 Hampel, H., Frankel, W.L., Martin, E., et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 352 (2005), 1851–1860.
    • (2005) N Engl J Med , vol.352 , pp. 1851-1860
    • Hampel, H.1    Frankel, W.L.2    Martin, E.3
  • 17
    • 84867499525 scopus 로고    scopus 로고
    • Identification of Lynch syndrome among patients with colorectal cancer
    • 17 Moreira, L., Balaguer, F., Lindor, N., et al. Identification of Lynch syndrome among patients with colorectal cancer. JAMA 308 (2012), 1555–1565.
    • (2012) JAMA , vol.308 , pp. 1555-1565
    • Moreira, L.1    Balaguer, F.2    Lindor, N.3
  • 18
    • 84876079162 scopus 로고    scopus 로고
    • Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center
    • 18 Heald, B., Plesec, T., Liu, X., et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center. J Clin Oncol 31 (2013), 1336–1340.
    • (2013) J Clin Oncol , vol.31 , pp. 1336-1340
    • Heald, B.1    Plesec, T.2    Liu, X.3
  • 19
    • 79960604164 scopus 로고    scopus 로고
    • Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis
    • 19 Ladabaum, U., Wang, G., Terdiman, J., et al. Strategies to identify the Lynch syndrome among patients with colorectal cancer: a cost-effectiveness analysis. Ann Intern Med 155 (2011), 69–79.
    • (2011) Ann Intern Med , vol.155 , pp. 69-79
    • Ladabaum, U.1    Wang, G.2    Terdiman, J.3
  • 20
    • 84883873822 scopus 로고    scopus 로고
    • Population-based molecular screening for Lynch syndrome: implications for personalized medicine
    • 20 Ward, R.L., Hicks, S., Hawkins, N.J., Population-based molecular screening for Lynch syndrome: implications for personalized medicine. J Clin Oncol 31 (2013), 2554–2562.
    • (2013) J Clin Oncol , vol.31 , pp. 2554-2562
    • Ward, R.L.1    Hicks, S.2    Hawkins, N.J.3
  • 21
    • 84892406685 scopus 로고    scopus 로고
    • Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers
    • 21 Egoavil, C., Alenda, C., Castillejo, A., et al. Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. PLoS One, 8, 2013, e79737.
    • (2013) PLoS One , vol.8 , pp. e79737
    • Egoavil, C.1    Alenda, C.2    Castillejo, A.3
  • 22
    • 84919333895 scopus 로고    scopus 로고
    • Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing
    • 22 Ferguson, S.E., Aronson, M., Pollett, A., et al. Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing. Cancer 120 (2014), 3932–3939.
    • (2014) Cancer , vol.120 , pp. 3932-3939
    • Ferguson, S.E.1    Aronson, M.2    Pollett, A.3
  • 23
    • 84957553878 scopus 로고    scopus 로고
    • Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study
    • 23 Goodfellow, P.J., Billingsley, C.C., Lankes, H.A., et al. Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. J Clin Oncol 33 (2015), 4301–4308.
    • (2015) J Clin Oncol , vol.33 , pp. 4301-4308
    • Goodfellow, P.J.1    Billingsley, C.C.2    Lankes, H.A.3
  • 24
    • 84861573997 scopus 로고    scopus 로고
    • Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps
    • 24 Yurgelun, M.B., Goel, A., Hornick, J.L., et al. Microsatellite instability and DNA mismatch repair protein deficiency in Lynch syndrome colorectal polyps. Cancer Prev Res (Phila) 5 (2012), 574–582.
    • (2012) Cancer Prev Res (Phila) , vol.5 , pp. 574-582
    • Yurgelun, M.B.1    Goel, A.2    Hornick, J.L.3
  • 25
    • 84918557128 scopus 로고    scopus 로고
    • Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm
    • 25 Everett, J.N., Raymond, V.M., Dandapani, M., et al. Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. JAMA Dermatol 150 (2014), 1315–1321.
    • (2014) JAMA Dermatol , vol.150 , pp. 1315-1321
    • Everett, J.N.1    Raymond, V.M.2    Dandapani, M.3
  • 26
    • 84939417462 scopus 로고    scopus 로고
    • Defective DNA mismatch repair activity is common in sebaceous neoplasms, and may be an ineffective approach to screen for Lynch syndrome
    • 26 Lamba, A.R., Moore, A.Y., Moore, T., et al. Defective DNA mismatch repair activity is common in sebaceous neoplasms, and may be an ineffective approach to screen for Lynch syndrome. Fam Cancer 14 (2015), 259–264.
    • (2015) Fam Cancer , vol.14 , pp. 259-264
    • Lamba, A.R.1    Moore, A.Y.2    Moore, T.3
  • 27
    • 84890439096 scopus 로고    scopus 로고
    • Small bowel adenocarcinoma phenotyping, a clinicobiological prognostic study
    • 27 Aparicio, T., Svrcek, M., Zaanan, A., et al. Small bowel adenocarcinoma phenotyping, a clinicobiological prognostic study. Br J Cancer 109 (2013), 3057–3066.
    • (2013) Br J Cancer , vol.109 , pp. 3057-3066
    • Aparicio, T.1    Svrcek, M.2    Zaanan, A.3
  • 28
    • 84887943622 scopus 로고    scopus 로고
    • The analysis of microsatellite instability in extracolonic gastrointestinal malignancy
    • 28 Williams, A.S., Huang, W.Y., The analysis of microsatellite instability in extracolonic gastrointestinal malignancy. Pathology 45 (2013), 540–552.
    • (2013) Pathology , vol.45 , pp. 540-552
    • Williams, A.S.1    Huang, W.Y.2
  • 29
    • 84890220904 scopus 로고    scopus 로고
    • Criteria and prediction models for mismatch repair gene mutations: a review
    • 29 Win, A.K., Macinnis, R.J., Dowty, J.G., et al. Criteria and prediction models for mismatch repair gene mutations: a review. J Med Genet 50 (2013), 785–793.
    • (2013) J Med Genet , vol.50 , pp. 785-793
    • Win, A.K.1    Macinnis, R.J.2    Dowty, J.G.3
  • 30
    • 84962617859 scopus 로고    scopus 로고
    • Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer
    • 30 Kastrinos, F., Ojha, R.P., Leenen, C., et al. Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. J Natl Cancer Inst, 108, 2016.
    • (2016) J Natl Cancer Inst , vol.108
    • Kastrinos, F.1    Ojha, R.P.2    Leenen, C.3
  • 31
    • 33749066191 scopus 로고    scopus 로고
    • Prediction of germline mutations and cancer risk in the Lynch syndrome
    • 31 Chen, S., Wang, W., Lee, S., et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 296 (2006), 1479–1487.
    • (2006) JAMA , vol.296 , pp. 1479-1487
    • Chen, S.1    Wang, W.2    Lee, S.3
  • 32
    • 78650513224 scopus 로고    scopus 로고
    • The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history
    • 32 Kastrinos, F., Steyerberg, E.W., Mercado, R., et al. The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 140 (2011), 73–81.
    • (2011) Gastroenterology , vol.140 , pp. 73-81
    • Kastrinos, F.1    Steyerberg, E.W.2    Mercado, R.3
  • 33
    • 80053916307 scopus 로고    scopus 로고
    • Performance of Lynch syndrome predictive models in a multi-center US referral population
    • quiz 1828
    • 33 Khan, O., Blanco, A., Conrad, P., et al. Performance of Lynch syndrome predictive models in a multi-center US referral population. Am J Gastroenterol 106 (2011), 1822–1827 quiz 1828.
    • (2011) Am J Gastroenterol , vol.106 , pp. 1822-1827
    • Khan, O.1    Blanco, A.2    Conrad, P.3
  • 34
    • 78650801916 scopus 로고    scopus 로고
    • Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population
    • 34 Dinh, T.A., Rosner, B.I., Atwood, J.C., et al. Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) 4 (2011), 9–22.
    • (2011) Cancer Prev Res (Phila) , vol.4 , pp. 9-22
    • Dinh, T.A.1    Rosner, B.I.2    Atwood, J.C.3
  • 35
    • 84863636958 scopus 로고    scopus 로고
    • Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases
    • 35 Mercado, R.C., Hampel, H., Kastrinos, F., et al. Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases. Genet Med 14 (2012), 670–680.
    • (2012) Genet Med , vol.14 , pp. 670-680
    • Mercado, R.C.1    Hampel, H.2    Kastrinos, F.3
  • 36
    • 84963823297 scopus 로고    scopus 로고
    • Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans
    • [Epub ahead of print]
    • 36 Lee, S.Y., Kim, D.W., Shin, Y.K., et al. Validation of Prediction Models for Mismatch Repair Gene Mutations in Koreans. Cancer Res Treat, 2015 [Epub ahead of print].
    • (2015) Cancer Res Treat
    • Lee, S.Y.1    Kim, D.W.2    Shin, Y.K.3
  • 37
    • 84939839583 scopus 로고    scopus 로고
    • Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome
    • 37 Yurgelun, M.B., Allen, B., Kaldate, R.R., et al. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Gastroenterology, 149(604-13), 2015, e20.
    • (2015) Gastroenterology , vol.149 , Issue.604-13 , pp. e20
    • Yurgelun, M.B.1    Allen, B.2    Kaldate, R.R.3
  • 38
    • 84876071726 scopus 로고    scopus 로고
    • Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?
    • 38 Domchek, S.M., Bradbury, A., Garber, J.E., et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net?. J Clin Oncol 31 (2013), 1267–1270.
    • (2013) J Clin Oncol , vol.31 , pp. 1267-1270
    • Domchek, S.M.1    Bradbury, A.2    Garber, J.E.3
  • 39
    • 84907289495 scopus 로고    scopus 로고
    • Gene panel testing for inherited cancer risk
    • 39 Hall, M.J., Forman, A.D., Pilarski, R., et al. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw 12 (2014), 1339–1346.
    • (2014) J Natl Compr Canc Netw , vol.12 , pp. 1339-1346
    • Hall, M.J.1    Forman, A.D.2    Pilarski, R.3
  • 40
    • 84905822972 scopus 로고    scopus 로고
    • Multigene panel testing: planning the next generation of research studies in clinical cancer genetics
    • 40 Robson, M., Multigene panel testing: planning the next generation of research studies in clinical cancer genetics. J Clin Oncol 32 (2014), 1987–1989.
    • (2014) J Clin Oncol , vol.32 , pp. 1987-1989
    • Robson, M.1
  • 41
    • 84939251973 scopus 로고    scopus 로고
    • Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory
    • 41 Cragun, D., Radford, C., Dolinsky, J.S., et al. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Clin Genet 86 (2014), 510–520.
    • (2014) Clin Genet , vol.86 , pp. 510-520
    • Cragun, D.1    Radford, C.2    Dolinsky, J.S.3
  • 42
    • 84922382013 scopus 로고    scopus 로고
    • Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing
    • 42 Chubb, D., Broderick, P., Frampton, M., et al. Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. J Clin Oncol 33 (2015), 426–432.
    • (2015) J Clin Oncol , vol.33 , pp. 426-432
    • Chubb, D.1    Broderick, P.2    Frampton, M.3
  • 43
    • 84947279527 scopus 로고    scopus 로고
    • American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility
    • 43 Robson, M.E., Bradbury, A.R., Arun, B., et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol 33 (2015), 3660–3667.
    • (2015) J Clin Oncol , vol.33 , pp. 3660-3667
    • Robson, M.E.1    Bradbury, A.R.2    Arun, B.3
  • 44
    • 0030910022 scopus 로고    scopus 로고
    • The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews
    • 44 Struewing, J.P., Hartge, P., Wacholder, S., et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336 (1997), 1401–1408.
    • (1997) N Engl J Med , vol.336 , pp. 1401-1408
    • Struewing, J.P.1    Hartge, P.2    Wacholder, S.3
  • 45
    • 0029794992 scopus 로고    scopus 로고
    • Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    • 45 Roa, B.B., Boyd, A.A., Volcik, K., et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 14 (1996), 185–187.
    • (1996) Nat Genet , vol.14 , pp. 185-187
    • Roa, B.B.1    Boyd, A.A.2    Volcik, K.3
  • 46
    • 75749096049 scopus 로고    scopus 로고
    • Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women
    • 46 Metcalfe, K.A., Poll, A., Royer, R., et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol 28 (2010), 387–391.
    • (2010) J Clin Oncol , vol.28 , pp. 387-391
    • Metcalfe, K.A.1    Poll, A.2    Royer, R.3
  • 47
    • 12144274336 scopus 로고    scopus 로고
    • Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications
    • 47 McClain, M.R., Palomaki, G.E., Nathanson, K.L., et al. Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications. Genet Med 7 (2005), 28–33.
    • (2005) Genet Med , vol.7 , pp. 28-33
    • McClain, M.R.1    Palomaki, G.E.2    Nathanson, K.L.3
  • 48
    • 0842302523 scopus 로고    scopus 로고
    • One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers
    • 48 Garber, J.E., Syngal, S., One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers. J Natl Cancer Inst 96 (2004), 2–3.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 2-3
    • Garber, J.E.1    Syngal, S.2
  • 49
    • 84920830655 scopus 로고    scopus 로고
    • Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian
    • 49 Mersch, J., Jackson, M.A., Park, M., et al. Cancers associated with BRCA1 and BRCA2 mutations other than breast and ovarian. Cancer 121 (2015), 269–275.
    • (2015) Cancer , vol.121 , pp. 269-275
    • Mersch, J.1    Jackson, M.A.2    Park, M.3
  • 50
    • 10744225854 scopus 로고    scopus 로고
    • Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer
    • 50 Kirchhoff, T., Satagopan, J.M., Kauff, N.D., et al. Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. J Natl Cancer Inst 96 (2004), 68–70.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 68-70
    • Kirchhoff, T.1    Satagopan, J.M.2    Kauff, N.D.3
  • 51
    • 84892913739 scopus 로고    scopus 로고
    • Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study
    • 51 Phelan, C.M., Iqbal, J., Lynch, H.T., et al. Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study. Br J Cancer 110 (2014), 530–534.
    • (2014) Br J Cancer , vol.110 , pp. 530-534
    • Phelan, C.M.1    Iqbal, J.2    Lynch, H.T.3
  • 52
    • 7944225535 scopus 로고    scopus 로고
    • Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk
    • 52 Croitoru, M.E., Cleary, S.P., Di Nicola, N., et al. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 96 (2004), 1631–1634.
    • (2004) J Natl Cancer Inst , vol.96 , pp. 1631-1634
    • Croitoru, M.E.1    Cleary, S.P.2    Di Nicola, N.3
  • 53
    • 33644747476 scopus 로고    scopus 로고
    • Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study
    • 53 Jenkins, M.A., Croitoru, M.E., Monga, N., et al. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev 15 (2006), 312–314.
    • (2006) Cancer Epidemiol Biomarkers Prev , vol.15 , pp. 312-314
    • Jenkins, M.A.1    Croitoru, M.E.2    Monga, N.3
  • 54
    • 84859606763 scopus 로고    scopus 로고
    • Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis?
    • 54 Nieuwenhuis, M.H., Vogt, S., Jones, N., et al. Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis?. Gut 61 (2012), 734–738.
    • (2012) Gut , vol.61 , pp. 734-738
    • Nieuwenhuis, M.H.1    Vogt, S.2    Jones, N.3
  • 55
    • 84859250601 scopus 로고    scopus 로고
    • MUTYH hotspot mutations in unselected colonoscopy patients
    • 55 Casper, M., Plotz, G., Juengling, B., et al. MUTYH hotspot mutations in unselected colonoscopy patients. Colorectal Dis 14 (2012), e238–e244.
    • (2012) Colorectal Dis , vol.14 , pp. e238-e244
    • Casper, M.1    Plotz, G.2    Juengling, B.3
  • 56
    • 80052266917 scopus 로고    scopus 로고
    • Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer
    • 56 Win, A.K., Cleary, S.P., Dowty, J.G., et al. Cancer risks for monoallelic MUTYH mutation carriers with a family history of colorectal cancer. Int J Cancer 129 (2011), 2256–2262.
    • (2011) Int J Cancer , vol.129 , pp. 2256-2262
    • Win, A.K.1    Cleary, S.P.2    Dowty, J.G.3
  • 57
    • 84899413123 scopus 로고    scopus 로고
    • Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer
    • 1208–11.e1–5
    • 57 Win, A.K., Dowty, J.G., Cleary, S.P., et al. Risk of colorectal cancer for carriers of mutations in MUTYH, with and without a family history of cancer. Gastroenterology, 146, 2014 1208–11.e1–5.
    • (2014) Gastroenterology , vol.146
    • Win, A.K.1    Dowty, J.G.2    Cleary, S.P.3
  • 58
    • 67650979375 scopus 로고    scopus 로고
    • Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH
    • 494.e1; quiz 725–6
    • 58 Jones, N., Vogt, S., Nielsen, M., et al. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137 (2009), 489–494 494.e1; quiz 725–6.
    • (2009) Gastroenterology , vol.137 , pp. 489-494
    • Jones, N.1    Vogt, S.2    Nielsen, M.3
  • 59
    • 69849112388 scopus 로고    scopus 로고
    • Clinical implications of the colorectal cancer risk associated with MUTYH mutation
    • 59 Lubbe, S.J., Di Bernardo, M.C., Chandler, I.P., et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation. J Clin Oncol 27 (2009), 3975–3980.
    • (2009) J Clin Oncol , vol.27 , pp. 3975-3980
    • Lubbe, S.J.1    Di Bernardo, M.C.2    Chandler, I.P.3
  • 60
    • 14044276307 scopus 로고    scopus 로고
    • Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH
    • 60 Peterlongo, P., Mitra, N., Chuai, S., et al. Colorectal cancer risk in individuals with biallelic or monoallelic mutations of MYH. Int J Cancer 114 (2005), 505–507.
    • (2005) Int J Cancer , vol.114 , pp. 505-507
    • Peterlongo, P.1    Mitra, N.2    Chuai, S.3
  • 61
    • 33947280508 scopus 로고    scopus 로고
    • Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study
    • 61 Balaguer, F., Castellvi-Bel, S., Castells, A., et al. Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study. Clin Gastroenterol Hepatol 5 (2007), 379–387.
    • (2007) Clin Gastroenterol Hepatol , vol.5 , pp. 379-387
    • Balaguer, F.1    Castellvi-Bel, S.2    Castells, A.3
  • 62
    • 80053022230 scopus 로고    scopus 로고
    • Li-fraumeni syndrome
    • 62 Malkin, D., Li-fraumeni syndrome. Genes Cancer 2 (2011), 475–484.
    • (2011) Genes Cancer , vol.2 , pp. 475-484
    • Malkin, D.1
  • 63
    • 84901033538 scopus 로고    scopus 로고
    • Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome
    • 63 Kamihara, J., Rana, H.Q., Garber, J.E., Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome. Hum Mutat 35 (2014), 654–662.
    • (2014) Hum Mutat , vol.35 , pp. 654-662
    • Kamihara, J.1    Rana, H.Q.2    Garber, J.E.3
  • 64
    • 30044447282 scopus 로고    scopus 로고
    • Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome
    • 64 Wong, P., Verselis, S.J., Garber, J.E., et al. Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome. Gastroenterology 130 (2006), 73–79.
    • (2006) Gastroenterology , vol.130 , pp. 73-79
    • Wong, P.1    Verselis, S.J.2    Garber, J.E.3
  • 65
    • 84994508622 scopus 로고    scopus 로고
    • Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry
    • 65 Yurgelun, M.B., Masciari, S., Joshi, V.A., et al. Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry. JAMA Oncol 1 (2015), 214–221.
    • (2015) JAMA Oncol , vol.1 , pp. 214-221
    • Yurgelun, M.B.1    Masciari, S.2    Joshi, V.A.3
  • 66
    • 0026324439 scopus 로고
    • Follow-up study of twenty-four families with Li-Fraumeni syndrome
    • 66 Garber, J.E., Goldstein, A.M., Kantor, A.F., et al. Follow-up study of twenty-four families with Li-Fraumeni syndrome. Cancer Res 51 (1991), 6094–6097.
    • (1991) Cancer Res , vol.51 , pp. 6094-6097
    • Garber, J.E.1    Goldstein, A.M.2    Kantor, A.F.3
  • 67
    • 62449249871 scopus 로고    scopus 로고
    • Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations
    • 67 Gonzalez, K.D., Noltner, K.A., Buzin, C.H., et al. Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol 27 (2009), 1250–1256.
    • (2009) J Clin Oncol , vol.27 , pp. 1250-1256
    • Gonzalez, K.D.1    Noltner, K.A.2    Buzin, C.H.3
  • 68
    • 0023715595 scopus 로고
    • A cancer family syndrome in twenty-four kindreds
    • 68 Li, F.P., Fraumeni, J.F. Jr., Mulvihill, J.J., et al. A cancer family syndrome in twenty-four kindreds. Cancer Res 48 (1988), 5358–5362.
    • (1988) Cancer Res , vol.48 , pp. 5358-5362
    • Li, F.P.1    Fraumeni, J.F.2    Mulvihill, J.J.3
  • 69
    • 70349320378 scopus 로고    scopus 로고
    • 2009 version of the Chompret criteria for Li Fraumeni syndrome
    • author reply e110
    • 69 Tinat, J., Bougeard, G., Baert-Desurmont, S., et al. 2009 version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol 27 (2009), e108–e109 author reply e110.
    • (2009) J Clin Oncol , vol.27 , pp. e108-e109
    • Tinat, J.1    Bougeard, G.2    Baert-Desurmont, S.3
  • 70
    • 84978177921 scopus 로고    scopus 로고
    • NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2016. . Accessed March 5, 2016.
    • 70 NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2016. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed March 5, 2016.
  • 71
    • 20244386256 scopus 로고    scopus 로고
    • Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X
    • 71 Lindor, N.M., Rabe, K., Petersen, G.M., et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA 293 (2005), 1979–1985.
    • (2005) JAMA , vol.293 , pp. 1979-1985
    • Lindor, N.M.1    Rabe, K.2    Petersen, G.M.3
  • 72
    • 84873096362 scopus 로고    scopus 로고
    • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
    • 72 Palles, C., Cazier, J.B., Howarth, K.M., et al. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45 (2013), 136–144.
    • (2013) Nat Genet , vol.45 , pp. 136-144
    • Palles, C.1    Cazier, J.B.2    Howarth, K.M.3
  • 73
    • 84937518503 scopus 로고    scopus 로고
    • Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer
    • 73 Elsayed, F.A., Kets, C.M., Ruano, D., et al. Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. Eur J Hum Genet 23 (2015), 1080–1084.
    • (2015) Eur J Hum Genet , vol.23 , pp. 1080-1084
    • Elsayed, F.A.1    Kets, C.M.2    Ruano, D.3
  • 74
    • 84945316242 scopus 로고    scopus 로고
    • POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
    • [E-pub ahead of print]
    • 74 Bellido, F., Pineda, M., Aiza, G., et al. POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance. Genet Med, 2015 [E-pub ahead of print].
    • (2015) Genet Med
    • Bellido, F.1    Pineda, M.2    Aiza, G.3
  • 75
    • 84902330508 scopus 로고    scopus 로고
    • New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis
    • 75 Valle, L., Hernandez-Illan, E., Bellido, F., et al. New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. Hum Mol Genet 23 (2014), 3506–3512.
    • (2014) Hum Mol Genet , vol.23 , pp. 3506-3512
    • Valle, L.1    Hernandez-Illan, E.2    Bellido, F.3
  • 76
    • 84976445794 scopus 로고    scopus 로고
    • Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers
    • [Epub ahead of print]
    • 76 Jansen, A.M., van Wezel, T., van den Akker, B.E., et al. Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers. Eur J Hum Genet, 2015 [Epub ahead of print].
    • (2015) Eur J Hum Genet
    • Jansen, A.M.1    van Wezel, T.2    van den Akker, B.E.3
  • 77
    • 84929293860 scopus 로고    scopus 로고
    • Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
    • 77 Spier, I., Holzapfel, S., Altmuller, J., et al. Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137 (2015), 320–331.
    • (2015) Int J Cancer , vol.137 , pp. 320-331
    • Spier, I.1    Holzapfel, S.2    Altmuller, J.3
  • 78
    • 84906536851 scopus 로고    scopus 로고
    • Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency
    • 595–598.e5
    • 78 Nieminen, T.T., O'Donohue, M.F., Wu, Y., et al. Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology, 147, 2014 595–598.e5.
    • (2014) Gastroenterology , vol.147
    • Nieminen, T.T.1    O'Donohue, M.F.2    Wu, Y.3
  • 79
    • 84922924068 scopus 로고    scopus 로고
    • Ribosomopathy association with colorectal cancer
    • 79 Kessel, R., Vlachos, A., Lipton, J.M., Ribosomopathy association with colorectal cancer. Gastroenterology, 148, 2015, 258.
    • (2015) Gastroenterology , vol.148 , pp. 258
    • Kessel, R.1    Vlachos, A.2    Lipton, J.M.3
  • 80
    • 84938864161 scopus 로고    scopus 로고
    • Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair
    • 80 Segui, N., Mina, L.B., Lazaro, C., et al. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair. Gastroenterology 149 (2015), 563–566.
    • (2015) Gastroenterology , vol.149 , pp. 563-566
    • Segui, N.1    Mina, L.B.2    Lazaro, C.3
  • 81
    • 84861584357 scopus 로고    scopus 로고
    • Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
    • 81 Jaeger, E., Leedham, S., Lewis, A., et al. Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat Genet 44 (2012), 699–703.
    • (2012) Nat Genet , vol.44 , pp. 699-703
    • Jaeger, E.1    Leedham, S.2    Lewis, A.3
  • 82
    • 84930084903 scopus 로고    scopus 로고
    • A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
    • 82 Weren, R.D., Ligtenberg, M.J., Kets, C.M., et al. A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47 (2015), 668–671.
    • (2015) Nat Genet , vol.47 , pp. 668-671
    • Weren, R.D.1    Ligtenberg, M.J.2    Kets, C.M.3
  • 83
    • 84946827930 scopus 로고    scopus 로고
    • Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors
    • 83 Rivera, B., Castellsague, E., Bah, I., et al. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. N Engl J Med 373 (2015), 1985–1986.
    • (2015) N Engl J Med , vol.373 , pp. 1985-1986
    • Rivera, B.1    Castellsague, E.2    Bah, I.3
  • 84
    • 0038002279 scopus 로고    scopus 로고
    • Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer
    • 84 Ribic, C.M., Sargent, D.J., Moore, M.J., et al. Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer. N Engl J Med 349 (2003), 247–257.
    • (2003) N Engl J Med , vol.349 , pp. 247-257
    • Ribic, C.M.1    Sargent, D.J.2    Moore, M.J.3
  • 85
    • 77954748953 scopus 로고    scopus 로고
    • Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer
    • 85 Sargent, D.J., Marsoni, S., Monges, G., et al. Defective mismatch repair as a predictive marker for lack of efficacy of fluorouracil-based adjuvant therapy in colon cancer. J Clin Oncol 28 (2010), 3219–3226.
    • (2010) J Clin Oncol , vol.28 , pp. 3219-3226
    • Sargent, D.J.1    Marsoni, S.2    Monges, G.3
  • 86
    • 84932628341 scopus 로고    scopus 로고
    • PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
    • 86 Le, D.T., Uram, J.N., Wang, H., et al. PD-1 Blockade in Tumors with Mismatch-Repair Deficiency. N Engl J Med 372 (2015), 2509–2520.
    • (2015) N Engl J Med , vol.372 , pp. 2509-2520
    • Le, D.T.1    Uram, J.N.2    Wang, H.3
  • 87
    • 84947265874 scopus 로고    scopus 로고
    • Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study
    • 87 Movahedi, M., Bishop, D.T., Macrae, F., et al. Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study. J Clin Oncol 33 (2015), 3591–3597.
    • (2015) J Clin Oncol , vol.33 , pp. 3591-3597
    • Movahedi, M.1    Bishop, D.T.2    Macrae, F.3
  • 88
    • 77957353339 scopus 로고    scopus 로고
    • Hereditary pancreatic cancer
    • 1080.e1–2
    • 88 Grover, S., Syngal, S., Hereditary pancreatic cancer. Gastroenterology 139 (2010), 1076–1080 1080.e1–2.
    • (2010) Gastroenterology , vol.139 , pp. 1076-1080
    • Grover, S.1    Syngal, S.2
  • 89
    • 70350733425 scopus 로고    scopus 로고
    • Risk of pancreatic cancer in families with Lynch syndrome
    • 89 Kastrinos, F., Mukherjee, B., Tayob, N., et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA 302 (2009), 1790–1795.
    • (2009) JAMA , vol.302 , pp. 1790-1795
    • Kastrinos, F.1    Mukherjee, B.2    Tayob, N.3
  • 90
    • 84872129624 scopus 로고    scopus 로고
    • Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance
    • 90 Korsse, S.E., Harinck, F., van Lier, M.G., et al. Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance. J Med Genet 50 (2013), 59–64.
    • (2013) J Med Genet , vol.50 , pp. 59-64
    • Korsse, S.E.1    Harinck, F.2    van Lier, M.G.3
  • 91
    • 0033836334 scopus 로고    scopus 로고
    • Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden)
    • 91 Vasen, H.F., Gruis, N.A., Frants, R.R., et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer 87 (2000), 809–811.
    • (2000) Int J Cancer , vol.87 , pp. 809-811
    • Vasen, H.F.1    Gruis, N.A.2    Frants, R.R.3
  • 92
    • 37849029916 scopus 로고    scopus 로고
    • Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series
    • 92 Rebours, V., Boutron-Ruault, M.C., Schnee, M., et al. Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. Am J Gastroenterol 103 (2008), 111–119.
    • (2008) Am J Gastroenterol , vol.103 , pp. 111-119
    • Rebours, V.1    Boutron-Ruault, M.C.2    Schnee, M.3
  • 93
    • 64849092309 scopus 로고    scopus 로고
    • Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
    • 93 Jones, S., Hruban, R.H., Kamiyama, M., et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science, 324, 2009, 217.
    • (2009) Science , vol.324 , pp. 217
    • Jones, S.1    Hruban, R.H.2    Kamiyama, M.3
  • 94
    • 84863830403 scopus 로고    scopus 로고
    • ATM mutations in patients with hereditary pancreatic cancer
    • 94 Roberts, N.J., Jiao, Y., Yu, J., et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2 (2012), 41–46.
    • (2012) Cancer Discov , vol.2 , pp. 41-46
    • Roberts, N.J.1    Jiao, Y.2    Yu, J.3
  • 95
    • 77953718900 scopus 로고    scopus 로고
    • TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes
    • 95 Ruijs, M.W., Verhoef, S., Rookus, M.A., et al. TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. J Med Genet 47 (2010), 421–428.
    • (2010) J Med Genet , vol.47 , pp. 421-428
    • Ruijs, M.W.1    Verhoef, S.2    Rookus, M.A.3
  • 96
    • 84943238840 scopus 로고    scopus 로고
    • Genetics and Genetic Testing in Pancreatic Cancer
    • 1252-1264.e4
    • 96 Whitcomb, D.C., Shelton, C.A., Brand, R.E., Genetics and Genetic Testing in Pancreatic Cancer. Gastroenterology, 149, 2015 1252-1264.e4.
    • (2015) Gastroenterology , vol.149
    • Whitcomb, D.C.1    Shelton, C.A.2    Brand, R.E.3
  • 97
    • 34248210562 scopus 로고    scopus 로고
    • PancPRO: risk assessment for individuals with a family history of pancreatic cancer
    • 97 Wang, W., Chen, S., Brune, K.A., et al. PancPRO: risk assessment for individuals with a family history of pancreatic cancer. J Clin Oncol 25 (2007), 1417–1422.
    • (2007) J Clin Oncol , vol.25 , pp. 1417-1422
    • Wang, W.1    Chen, S.2    Brune, K.A.3
  • 98
    • 84941261769 scopus 로고    scopus 로고
    • Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma
    • 98 Holter, S., Borgida, A., Dodd, A., et al. Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma. J Clin Oncol 33 (2015), 3124–3129.
    • (2015) J Clin Oncol , vol.33 , pp. 3124-3129
    • Holter, S.1    Borgida, A.2    Dodd, A.3
  • 99
    • 84923917285 scopus 로고    scopus 로고
    • Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer
    • 99 Grant, R.C., Selander, I., Connor, A.A., et al. Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterology 148 (2015), 556–564.
    • (2015) Gastroenterology , vol.148 , pp. 556-564
    • Grant, R.C.1    Selander, I.2    Connor, A.A.3
  • 100
    • 84949321701 scopus 로고    scopus 로고
    • Identification of germline genetic mutations in patients with pancreatic cancer
    • 100 Salo-Mullen, E.E., O'Reilly, E.M., Kelsen, D.P., et al. Identification of germline genetic mutations in patients with pancreatic cancer. Cancer 121 (2015), 4382–4388.
    • (2015) Cancer , vol.121 , pp. 4382-4388
    • Salo-Mullen, E.E.1    O'Reilly, E.M.2    Kelsen, D.P.3
  • 101
    • 84939566713 scopus 로고    scopus 로고
    • Family history as a marker of platinum sensitivity in pancreatic adenocarcinoma
    • 101 Fogelman, D., Sugar, E.A., Oliver, G., et al. Family history as a marker of platinum sensitivity in pancreatic adenocarcinoma. Cancer Chemother Pharmacol 76 (2015), 489–498.
    • (2015) Cancer Chemother Pharmacol , vol.76 , pp. 489-498
    • Fogelman, D.1    Sugar, E.A.2    Oliver, G.3
  • 102
    • 84921771510 scopus 로고    scopus 로고
    • Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation
    • 102 Kaufman, B., Shapira-Frommer, R., Schmutzler, R.K., et al. Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J Clin Oncol 33 (2015), 244–250.
    • (2015) J Clin Oncol , vol.33 , pp. 244-250
    • Kaufman, B.1    Shapira-Frommer, R.2    Schmutzler, R.K.3
  • 103
    • 84939436494 scopus 로고    scopus 로고
    • Assessing the Significance of BRCA1 and BRCA2 Mutations in Pancreatic Cancer
    • 103 Carnevale, J., Ashworth, A., Assessing the Significance of BRCA1 and BRCA2 Mutations in Pancreatic Cancer. J Clin Oncol 33 (2015), 3080–3081.
    • (2015) J Clin Oncol , vol.33 , pp. 3080-3081
    • Carnevale, J.1    Ashworth, A.2
  • 104
    • 84859393143 scopus 로고    scopus 로고
    • Frequent detection of pancreatic lesions in asymptomatic high-risk individuals
    • quiz e14–5
    • 104 Canto, M.I., Hruban, R.H., Fishman, E.K., et al. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology 142 (2012), 796–804 quiz e14–5.
    • (2012) Gastroenterology , vol.142 , pp. 796-804
    • Canto, M.I.1    Hruban, R.H.2    Fishman, E.K.3
  • 105
    • 84934287731 scopus 로고    scopus 로고
    • Short-term Results of a Magnetic Resonance Imaging-Based Swedish Screening Program for Individuals at Risk for Pancreatic Cancer
    • 105 Del Chiaro, M., Verbeke, C.S., Kartalis, N., et al. Short-term Results of a Magnetic Resonance Imaging-Based Swedish Screening Program for Individuals at Risk for Pancreatic Cancer. JAMA Surg 150 (2015), 512–518.
    • (2015) JAMA Surg , vol.150 , pp. 512-518
    • Del Chiaro, M.1    Verbeke, C.S.2    Kartalis, N.3
  • 106
    • 33745278522 scopus 로고    scopus 로고
    • Patient perspective on the value of genetic counselling for familial pancreas cancer
    • 106 Axilbund, J.E., Brune, K.A., Canto, M.I., et al. Patient perspective on the value of genetic counselling for familial pancreas cancer. Hered Cancer Clin Pract 3 (2005), 115–122.
    • (2005) Hered Cancer Clin Pract , vol.3 , pp. 115-122
    • Axilbund, J.E.1    Brune, K.A.2    Canto, M.I.3
  • 107
    • 84978253312 scopus 로고    scopus 로고
    • Repeated participation in pancreatic cancer surveillance by high-risk individuals imposes low psychological burden
    • [Epuh ahead of print]
    • 107 Konings, I.C., Sidharta, G.N., Harinck, F., et al. Repeated participation in pancreatic cancer surveillance by high-risk individuals imposes low psychological burden. Psychooncology, 2015 [Epuh ahead of print].
    • (2015) Psychooncology
    • Konings, I.C.1    Sidharta, G.N.2    Harinck, F.3
  • 108
    • 82955247971 scopus 로고    scopus 로고
    • Feasibility of a pancreatic cancer surveillance program from a psychological point of view
    • 108 Harinck, F., Nagtegaal, T., Kluijt, I., et al. Feasibility of a pancreatic cancer surveillance program from a psychological point of view. Genet Med 13 (2011), 1015–1024.
    • (2011) Genet Med , vol.13 , pp. 1015-1024
    • Harinck, F.1    Nagtegaal, T.2    Kluijt, I.3
  • 109
    • 78650223070 scopus 로고    scopus 로고
    • Pancreatic cancer risk counselling and screening: impact on perceived risk and psychological functioning
    • 109 Maheu, C., Vodermaier, A., Rothenmund, H., et al. Pancreatic cancer risk counselling and screening: impact on perceived risk and psychological functioning. Fam Cancer 9 (2010), 617–624.
    • (2010) Fam Cancer , vol.9 , pp. 617-624
    • Maheu, C.1    Vodermaier, A.2    Rothenmund, H.3
  • 110
    • 84861349218 scopus 로고    scopus 로고
    • Moderators of cancer-related distress and worry after a pancreatic cancer genetic counseling and screening intervention
    • 110 Hart, S.L., Torbit, L.A., Crangle, C.J., et al. Moderators of cancer-related distress and worry after a pancreatic cancer genetic counseling and screening intervention. Psychooncology 21 (2012), 1324–1330.
    • (2012) Psychooncology , vol.21 , pp. 1324-1330
    • Hart, S.L.1    Torbit, L.A.2    Crangle, C.J.3
  • 111
    • 84930641121 scopus 로고    scopus 로고
    • Patient experiences living with pancreatic cancer risk
    • 111 Underhill, M., Berry, D., Dalton, E., et al. Patient experiences living with pancreatic cancer risk. Hered Cancer Clin Pract, 13, 2015, 13.
    • (2015) Hered Cancer Clin Pract , vol.13 , pp. 13
    • Underhill, M.1    Berry, D.2    Dalton, E.3
  • 112
    • 67349238762 scopus 로고    scopus 로고
    • Pancreatic cancer surveillance among high-risk populations: knowledge and intent
    • 112 Lewis, Z.K., Frost, C.J., Venne, V.L., Pancreatic cancer surveillance among high-risk populations: knowledge and intent. J Genet Couns 18 (2009), 229–238.
    • (2009) J Genet Couns , vol.18 , pp. 229-238
    • Lewis, Z.K.1    Frost, C.J.2    Venne, V.L.3
  • 113
    • 84864753148 scopus 로고    scopus 로고
    • Factors influencing receptivity to future screening options for pancreatic cancer in those with and without pancreatic cancer family history
    • 113 Breitkopf, C.R., Sinicrope, P.S., Rabe, K.G., et al. Factors influencing receptivity to future screening options for pancreatic cancer in those with and without pancreatic cancer family history. Hered Cancer Clin Pract, 10, 2012, 8.
    • (2012) Hered Cancer Clin Pract , vol.10 , pp. 8
    • Breitkopf, C.R.1    Sinicrope, P.S.2    Rabe, K.G.3
  • 114
    • 0028900589 scopus 로고
    • Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer
    • 114 Jarvinen, H.J., Mecklin, J.P., Sistonen, P., Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology 108 (1995), 1405–1411.
    • (1995) Gastroenterology , vol.108 , pp. 1405-1411
    • Jarvinen, H.J.1    Mecklin, J.P.2    Sistonen, P.3
  • 115
    • 70350439453 scopus 로고    scopus 로고
    • Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members
    • 115 Jarvinen, H.J., Renkonen-Sinisalo, L., Aktan-Collan, K., et al. Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members. J Clin Oncol 27 (2009), 4793–4797.
    • (2009) J Clin Oncol , vol.27 , pp. 4793-4797
    • Jarvinen, H.J.1    Renkonen-Sinisalo, L.2    Aktan-Collan, K.3
  • 116
    • 27744477699 scopus 로고    scopus 로고
    • Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study
    • 116 Dove-Edwin, I., Sasieni, P., Adams, J., et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer: 16 year, prospective, follow-up study. BMJ, 331, 2005, 1047.
    • (2005) BMJ , vol.331 , pp. 1047
    • Dove-Edwin, I.1    Sasieni, P.2    Adams, J.3
  • 117
    • 75349092528 scopus 로고    scopus 로고
    • Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer
    • 117 Engel, C., Rahner, N., Schulmann, K., et al. Efficacy of annual colonoscopic surveillance in individuals with hereditary nonpolyposis colorectal cancer. Clin Gastroenterol Hepatol 8 (2010), 174–182.
    • (2010) Clin Gastroenterol Hepatol , vol.8 , pp. 174-182
    • Engel, C.1    Rahner, N.2    Schulmann, K.3
  • 118
    • 84867626328 scopus 로고    scopus 로고
    • Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation
    • 118 Stuckless, S., Green, J.S., Morgenstern, M., et al. Impact of colonoscopic screening in male and female Lynch syndrome carriers with an MSH2 mutation. Clin Genet 82 (2012), 439–445.
    • (2012) Clin Genet , vol.82 , pp. 439-445
    • Stuckless, S.1    Green, J.S.2    Morgenstern, M.3
  • 119
    • 77952687174 scopus 로고    scopus 로고
    • One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome
    • 119 Vasen, H.F., Abdirahman, M., Brohet, R., et al. One to 2-year surveillance intervals reduce risk of colorectal cancer in families with Lynch syndrome. Gastroenterology 138 (2010), 2300–2306.
    • (2010) Gastroenterology , vol.138 , pp. 2300-2306
    • Vasen, H.F.1    Abdirahman, M.2    Brohet, R.3
  • 120
    • 0036906436 scopus 로고    scopus 로고
    • Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families
    • 120 de Vos tot Nederveen Cappel, W.H., Nagengast, F.M., Griffioen, G., et al. Surveillance for hereditary nonpolyposis colorectal cancer: a long-term study on 114 families. Dis Colon Rectum 45 (2002), 1588–1594.
    • (2002) Dis Colon Rectum , vol.45 , pp. 1588-1594
    • de Vos tot Nederveen Cappel, W.H.1    Nagengast, F.M.2    Griffioen, G.3
  • 121
    • 42549165647 scopus 로고    scopus 로고
    • Guidelines for the clinical management of familial adenomatous polyposis (FAP)
    • 121 Vasen, H.F., Moslein, G., Alonso, A., et al. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57 (2008), 704–713.
    • (2008) Gut , vol.57 , pp. 704-713
    • Vasen, H.F.1    Moslein, G.2    Alonso, A.3
  • 122
    • 0034541852 scopus 로고    scopus 로고
    • Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis after colectomy and ileorectal anastomosis
    • 122 Bjork, J.A., Akerbrant, H.I., Iselius, L.E., et al. Risk factors for rectal cancer morbidity and mortality in patients with familial adenomatous polyposis after colectomy and ileorectal anastomosis. Dis Colon Rectum 43 (2000), 1719–1725.
    • (2000) Dis Colon Rectum , vol.43 , pp. 1719-1725
    • Bjork, J.A.1    Akerbrant, H.I.2    Iselius, L.E.3
  • 123
    • 0037962881 scopus 로고    scopus 로고
    • Results of national registration of familial adenomatous polyposis
    • 123 Bulow, S., Results of national registration of familial adenomatous polyposis. Gut 52 (2003), 742–746.
    • (2003) Gut , vol.52 , pp. 742-746
    • Bulow, S.1
  • 124
    • 0034524922 scopus 로고    scopus 로고
    • Impact of screening examinations on survival in familial adenomatous polyposis
    • 124 Heiskanen, I., Luostarinen, T., Jarvinen, H.J., Impact of screening examinations on survival in familial adenomatous polyposis. Scand J Gastroenterol 35 (2000), 1284–1287.
    • (2000) Scand J Gastroenterol , vol.35 , pp. 1284-1287
    • Heiskanen, I.1    Luostarinen, T.2    Jarvinen, H.J.3
  • 125
    • 68149124259 scopus 로고    scopus 로고
    • The evolution of prophylactic colorectal surgery for familial adenomatous polyposis
    • 125 da Luz Moreira, A., Church, J.M., Burke, C.A., The evolution of prophylactic colorectal surgery for familial adenomatous polyposis. Dis Colon Rectum 52 (2009), 1481–1486.
    • (2009) Dis Colon Rectum , vol.52 , pp. 1481-1486
    • da Luz Moreira, A.1    Church, J.M.2    Burke, C.A.3
  • 126
  • 127
    • 10744228081 scopus 로고    scopus 로고
    • Duodenal adenomatosis in familial adenomatous polyposis
    • 127 Bulow, S., Bjork, J., Christensen, I.J., et al. Duodenal adenomatosis in familial adenomatous polyposis. Gut 53 (2004), 381–386.
    • (2004) Gut , vol.53 , pp. 381-386
    • Bulow, S.1    Bjork, J.2    Christensen, I.J.3
  • 128
    • 84875211261 scopus 로고    scopus 로고
    • The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis
    • 128 Lopez-Ceron, M., van den Broek, F.J., Mathus-Vliegen, E.M., et al. The role of high-resolution endoscopy and narrow-band imaging in the evaluation of upper GI neoplasia in familial adenomatous polyposis. Gastrointest Endosc 77 (2013), 542–550.
    • (2013) Gastrointest Endosc , vol.77 , pp. 542-550
    • Lopez-Ceron, M.1    van den Broek, F.J.2    Mathus-Vliegen, E.M.3
  • 129
    • 0034754257 scopus 로고    scopus 로고
    • Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations
    • 129 Bjork, J., Akerbrant, H., Iselius, L., et al. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Gastroenterology 121 (2001), 1127–1135.
    • (2001) Gastroenterology , vol.121 , pp. 1127-1135
    • Bjork, J.1    Akerbrant, H.2    Iselius, L.3
  • 130
    • 1442290391 scopus 로고    scopus 로고
    • Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease
    • 130 Saurin, J.C., Gutknecht, C., Napoleon, B., et al. Surveillance of duodenal adenomas in familial adenomatous polyposis reveals high cumulative risk of advanced disease. J Clin Oncol 22 (2004), 493–498.
    • (2004) J Clin Oncol , vol.22 , pp. 493-498
    • Saurin, J.C.1    Gutknecht, C.2    Napoleon, B.3
  • 131
    • 33947174682 scopus 로고    scopus 로고
    • Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations
    • 131 Herraiz, M., Barbesino, G., Faquin, W., et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 5 (2007), 367–373.
    • (2007) Clin Gastroenterol Hepatol , vol.5 , pp. 367-373
    • Herraiz, M.1    Barbesino, G.2    Faquin, W.3
  • 132
    • 0035072070 scopus 로고    scopus 로고
    • Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer
    • 132 Attard, T.M., Giardiello, F.M., Argani, P., et al. Fundic gland polyposis with high-grade dysplasia in a child with attenuated familial adenomatous polyposis and familial gastric cancer. J Pediatr Gastroenterol Nutr 32 (2001), 215–218.
    • (2001) J Pediatr Gastroenterol Nutr , vol.32 , pp. 215-218
    • Attard, T.M.1    Giardiello, F.M.2    Argani, P.3
  • 133
    • 0037961628 scopus 로고    scopus 로고
    • Attenuated familial adenomatous polyposis (AFAP). A review of the literature
    • 133 Knudsen, A.L., Bisgaard, M.L., Bulow, S., Attenuated familial adenomatous polyposis (AFAP). A review of the literature. Fam Cancer 2 (2003), 43–55.
    • (2003) Fam Cancer , vol.2 , pp. 43-55
    • Knudsen, A.L.1    Bisgaard, M.L.2    Bulow, S.3
  • 135
    • 70649083240 scopus 로고    scopus 로고
    • Expanded extracolonic tumor spectrum in MUTYH-associated polyposis
    • 1976–85.e1–10
    • 135 Vogt, S., Jones, N., Christian, D., et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology, 137, 2009 1976–85.e1–10.
    • (2009) Gastroenterology , vol.137
    • Vogt, S.1    Jones, N.2    Christian, D.3
  • 136
    • 84895779653 scopus 로고    scopus 로고
    • Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps
    • 136 Guarinos, C., Juarez, M., Egoavil, C., et al. Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin Cancer Res 20 (2014), 1158–1168.
    • (2014) Clin Cancer Res , vol.20 , pp. 1158-1168
    • Guarinos, C.1    Juarez, M.2    Egoavil, C.3
  • 137
    • 62949228316 scopus 로고    scopus 로고
    • Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study
    • 137 Cleary, S.P., Cotterchio, M., Jenkins, M.A., et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 136 (2009), 1251–1260.
    • (2009) Gastroenterology , vol.136 , pp. 1251-1260
    • Cleary, S.P.1    Cotterchio, M.2    Jenkins, M.A.3
  • 138
    • 84925152750 scopus 로고    scopus 로고
    • Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis
    • 138 Landon, M., Ceulemans, S., Saraiya, D.S., et al. Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis. Clin Genet 87 (2015), 368–372.
    • (2015) Clin Genet , vol.87 , pp. 368-372
    • Landon, M.1    Ceulemans, S.2    Saraiya, D.S.3
  • 139
    • 77953985258 scopus 로고    scopus 로고
    • Peutz-Jeghers syndrome: a systematic review and recommendations for management
    • 139 Beggs, A.D., Latchford, A.R., Vasen, H.F., et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59 (2010), 975–986.
    • (2010) Gut , vol.59 , pp. 975-986
    • Beggs, A.D.1    Latchford, A.R.2    Vasen, H.F.3
  • 140
    • 77953230425 scopus 로고    scopus 로고
    • High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations
    • author reply 1265
    • 140 van Lier, M.G., Wagner, A., Mathus-Vliegen, E.M., et al. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. author reply 1265 Am J Gastroenterol 105 (2010), 1258–1264.
    • (2010) Am J Gastroenterol , vol.105 , pp. 1258-1264
    • van Lier, M.G.1    Wagner, A.2    Mathus-Vliegen, E.M.3
  • 141
    • 84868703296 scopus 로고    scopus 로고
    • Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome
    • 141 Latchford, A.R., Neale, K., Phillips, R.K., et al. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome. Dis Colon Rectum 55 (2012), 1038–1043.
    • (2012) Dis Colon Rectum , vol.55 , pp. 1038-1043
    • Latchford, A.R.1    Neale, K.2    Phillips, R.K.3
  • 142
    • 33845513528 scopus 로고    scopus 로고
    • ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis
    • 142 Howe, J.R., Haidle, J.L., Lal, G., et al. ENG mutations in MADH4/BMPR1A mutation negative patients with juvenile polyposis. Clin Genet 71 (2007), 91–92.
    • (2007) Clin Genet , vol.71 , pp. 91-92
    • Howe, J.R.1    Haidle, J.L.2    Lal, G.3
  • 143
    • 33644792947 scopus 로고    scopus 로고
    • A review of juvenile polyposis syndrome
    • 143 Chow, E., Macrae, F., A review of juvenile polyposis syndrome. J Gastroenterol Hepatol 20 (2005), 1634–1640.
    • (2005) J Gastroenterol Hepatol , vol.20 , pp. 1634-1640
    • Chow, E.1    Macrae, F.2
  • 144
    • 13944265646 scopus 로고    scopus 로고
    • The hamartomatous polyposis syndromes: a clinical and molecular review
    • 144 Schreibman, I.R., Baker, M., Amos, C., et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol 100 (2005), 476–490.
    • (2005) Am J Gastroenterol , vol.100 , pp. 476-490
    • Schreibman, I.R.1    Baker, M.2    Amos, C.3
  • 145
    • 0141534443 scopus 로고    scopus 로고
    • Gynecologic screening in hereditary nonpolyposis colorectal cancer
    • 145 Rijcken, F.E., Mourits, M.J., Kleibeuker, J.H., et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 91 (2003), 74–80.
    • (2003) Gynecol Oncol , vol.91 , pp. 74-80
    • Rijcken, F.E.1    Mourits, M.J.2    Kleibeuker, J.H.3
  • 146
    • 84879260011 scopus 로고    scopus 로고
    • Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
    • 146 Clendenning, M., Young, J.P., Walsh, M.D., et al. Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome. PLoS One, 8, 2013, e66705.
    • (2013) PLoS One , vol.8 , pp. e66705
    • Clendenning, M.1    Young, J.P.2    Walsh, M.D.3
  • 147
    • 84866091151 scopus 로고    scopus 로고
    • Serrated lesions of the colorectum: review and recommendations from an expert panel
    • quiz 1314, 1330
    • 147 Rex, D.K., Ahnen, D.J., Baron, J.A., et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol 107 (2012), 1315–1329 quiz 1314, 1330.
    • (2012) Am J Gastroenterol , vol.107 , pp. 1315-1329
    • Rex, D.K.1    Ahnen, D.J.2    Baron, J.A.3
  • 148
    • 19744380352 scopus 로고    scopus 로고
    • Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS)
    • 148 Leach, M.O., Boggis, C.R., Dixon, A.K., et al. Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365 (2005), 1769–1778.
    • (2005) Lancet , vol.365 , pp. 1769-1778
    • Leach, M.O.1    Boggis, C.R.2    Dixon, A.K.3
  • 149
    • 84864622853 scopus 로고    scopus 로고
    • Genetic testing by cancer site: pancreas
    • 149 Axilbund, J.E., Wiley, E.A., Genetic testing by cancer site: pancreas. Cancer J 18 (2012), 350–354.
    • (2012) Cancer J , vol.18 , pp. 350-354
    • Axilbund, J.E.1    Wiley, E.A.2
  • 150
    • 84937150562 scopus 로고    scopus 로고
    • Screening in GI Cancers: The Role of Genetics
    • 150 Stoffel, E.M., Screening in GI Cancers: The Role of Genetics. J Clin Oncol 33 (2015), 1721–1728.
    • (2015) J Clin Oncol , vol.33 , pp. 1721-1728
    • Stoffel, E.M.1


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