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Volumn 15, Issue 1, 2017, Pages 9-20

Genetic/familial high-risk assessment: Breast and ovarian, version 2.2017: Featured updates to the NCCN guidelines

(27)  Daly, Mary B a   Pilarski, Robert b   Berry, Michael c   Buys, Saundra S d   Farmer, Meagan e   Friedman, Susan f   Garber, Judy E g   Kauff, Noah D h   Khan, Seema i   Klein, Catherine j   Kohlmann, Wendy d   Kurian, Allison k   Litton, Jennifer K l   Madlensky, Lisa m   Merajver, Sofia D n   Offit, Kenneth o   Pal, Tuya p   Reiser, Gwen q   Shannon, Kristen Mahoney r   Swisher, Elizabeth s   more..


Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 INTERACTION PROTEIN C TERMINAL HELICASE 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; NEUROFIBROMIN; NIBRIN; PARTNER AND LOCALIZER OF BRCA2 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE LKB1; PROTEIN P53; RAD51 PROTEIN; RAD51C PROTEIN; RAD51D PROTEIN; UNCLASSIFIED DRUG; UVOMORULIN;

EID: 85009085880     PISSN: 15401405     EISSN: 15401413     Source Type: Journal    
DOI: 10.6004/jnccn.2017.0003     Document Type: Review
Times cited : (404)

References (71)
  • 2
    • 0030914999 scopus 로고    scopus 로고
    • Family history and the risk of breast cancer: A systematic review and meta-analysis
    • Pharoah PD, Day NE, Duffy S, et al. Family history and the risk of breast cancer: A systematic review and meta-analysis. Int J Cancer 1997;71: 800-809.
    • (1997) Int J Cancer , vol.71 , pp. 800-809
    • Pharoah, P.D.1    Day, N.E.2    Duffy, S.3
  • 3
    • 84925229366 scopus 로고    scopus 로고
    • Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions
    • Lancaster JM, Powell CB, Chen LM, Richardson DL. Society of Gynecologic Oncology statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 2015;136: 3-7.
    • (2015) Gynecol Oncol , vol.136 , pp. 3-7
    • Lancaster, J.M.1    Powell, C.B.2    Chen, L.M.3    Richardson, D.L.4
  • 4
    • 84930950753 scopus 로고    scopus 로고
    • Genetics of breast cancer: A topic in evolution
    • Shiovitz S, Korde LA. Genetics of breast cancer: A topic in evolution. Ann Oncol 2015;26: 1291-1299.
    • (2015) Ann Oncol , vol.26 , pp. 1291-1299
    • Shiovitz, S.1    Korde, L.A.2
  • 5
    • 84965036445 scopus 로고    scopus 로고
    • Panel testing is not a panacea
    • Axilbund JE. Panel testing is not a panacea. J Clin Oncol 2016;34: 1433-1435.
    • (2016) J Clin Oncol , vol.34 , pp. 1433-1435
    • Axilbund, J.E.1
  • 6
    • 84983249377 scopus 로고    scopus 로고
    • Counselling framework for moderate-penetrance cancer-susceptibility mutations
    • Tung N, Domchek SM, Stadler Z, et al. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol 2016;13: 581-588.
    • (2016) Nat Rev Clin Oncol , vol.13 , pp. 581-588
    • Tung, N.1    Domchek, S.M.2    Stadler, Z.3
  • 7
    • 84930531402 scopus 로고    scopus 로고
    • Gene-panel sequencing and the prediction of breast-cancer risk
    • Easton DF, Pharoah PD, Antoniou AC, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med 2015;372: 2243-2257.
    • (2015) N Engl J Med , vol.372 , pp. 2243-2257
    • Easton, D.F.1    Pharoah, P.D.2    Antoniou, A.C.3
  • 8
    • 84965051096 scopus 로고    scopus 로고
    • Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer
    • Tung N, Lin NU, Kidd J, et al. Frequency of germline mutations in 25 cancer susceptibility genes in a sequential series of patients with breast cancer. J Clin Oncol 2016;34: 1460-1468.
    • (2016) J Clin Oncol , vol.34 , pp. 1460-1468
    • Tung, N.1    Lin, N.U.2    Kidd, J.3
  • 9
    • 0033911566 scopus 로고    scopus 로고
    • ATM-heterozygous germline mutations contribute to breast cancer-susceptibility
    • Broeks A, Urbanus JH, Floore AN, et al. ATM-heterozygous germline mutations contribute to breast cancer-susceptibility. Am J Hum Genet 2000;66: 494-500.
    • (2000) Am J Hum Genet , vol.66 , pp. 494-500
    • Broeks, A.1    Urbanus, J.H.2    Floore, A.N.3
  • 10
    • 42049113690 scopus 로고    scopus 로고
    • ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations
    • Brunet J, Gutierrez-Enriquez S, Torres A, et al. ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin Genet 2008;73: 465-473.
    • (2008) Clin Genet , vol.73 , pp. 465-473
    • Brunet, J.1    Gutierrez-Enriquez, S.2    Torres, A.3
  • 11
    • 20444494002 scopus 로고    scopus 로고
    • Association of common ATM polymorphism with bilateral breast cancer
    • Heikkinen K, Rapakko K, Karppinen SM, et al. Association of common ATM polymorphism with bilateral breast cancer. Int J Cancer 2005;116: 69-72.
    • (2005) Int J Cancer , vol.116 , pp. 69-72
    • Heikkinen, K.1    Rapakko, K.2    Karppinen, S.M.3
  • 12
    • 33749566345 scopus 로고    scopus 로고
    • ATM variants and cancer risk in breast cancer patients from Southern Finland
    • Tommiska J, Jansen L, Kilpivaara O, et al. ATM variants and cancer risk in breast cancer patients from Southern Finland. BMC Cancer 2006;6: 209.
    • (2006) BMC Cancer , vol.6 , pp. 209
    • Tommiska, J.1    Jansen, L.2    Kilpivaara, O.3
  • 13
    • 84978800336 scopus 로고    scopus 로고
    • Health risks for ataxia-telangiectasia mutated heterozygotes: A systematic review, meta-analysis and evidence-based guideline
    • van Os NJ, Roeleveld N, Weemaes CM, et al. Health risks for ataxia-telangiectasia mutated heterozygotes: A systematic review, meta-analysis and evidence-based guideline. Clin Genet 2016;90: 105-117.
    • (2016) Clin Genet , vol.90 , pp. 105-117
    • Van Os, N.J.1    Roeleveld, N.2    Weemaes, C.M.3
  • 14
    • 80053100604 scopus 로고    scopus 로고
    • Rare variants in the ATM gene and risk of breast cancer
    • Goldgar DE, Healey S, Dowty JG, et al. Rare variants in the ATM gene and risk of breast cancer. Breast Cancer Res 2011;13: R73.
    • (2011) Breast Cancer Res , vol.13 , pp. R73
    • Goldgar, D.E.1    Healey, S.2    Dowty, J.G.3
  • 15
    • 77950574815 scopus 로고    scopus 로고
    • Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study
    • Bernstein JL, Haile RW, Stovall M, et al. Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study. J Natl Cancer Inst 2010;102: 475-483.
    • (2010) J Natl Cancer Inst , vol.102 , pp. 475-483
    • Bernstein, J.L.1    Haile, R.W.2    Stovall, M.3
  • 16
    • 85010702793 scopus 로고    scopus 로고
    • Inherited mutations in women with ovarian carcinoma
    • Norquist BM, Harrell MI, Brady MF, et al. Inherited mutations in women with ovarian carcinoma. JAMA Oncol 2015;2: 1-9.
    • (2015) JAMA Oncol , vol.2 , pp. 1-9
    • Norquist, B.M.1    Harrell, M.I.2    Brady, M.F.3
  • 17
    • 84952641661 scopus 로고    scopus 로고
    • Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer
    • pii: Djv214
    • Ramus SJ, Song H, Dicks E, et al. Germline mutations in the BRIP1, BARD1, PALB2, and NBN genes in women with ovarian cancer. J Natl Cancer Inst 2015;107: Pii: Djv214.
    • (2015) J Natl Cancer Inst , vol.107
    • Ramus, S.J.1    Song, H.2    Dicks, E.3
  • 18
    • 80054973810 scopus 로고    scopus 로고
    • Mutations in BRIP1 confer high risk of ovarian cancer
    • Rafnar T, Gudbjartsson DF, Sulem P, et al. Mutations in BRIP1 confer high risk of ovarian cancer. Nat Genet 2011;43: 1104-1107.
    • (2011) Nat Genet , vol.43 , pp. 1104-1107
    • Rafnar, T.1    Gudbjartsson, D.F.2    Sulem, P.3
  • 19
    • 84974605065 scopus 로고    scopus 로고
    • Epithelial ovarian cancer
    • In: Barakat RR, Markman M, Randall ME, eds. 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins
    • Fleming GF, Seidman J, Lengyel E. Epithelial ovarian cancer. In: Barakat RR, Markman M, Randall ME, eds. Principles and Practice of Gynecologic Oncology, 6th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2013: 757-847.
    • (2013) Principles and Practice of Gynecologic Oncology , pp. 757-847
    • Fleming, G.F.1    Seidman, J.2    Lengyel, E.3
  • 20
    • 84959299225 scopus 로고    scopus 로고
    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing
    • Easton DF, Lesueur F, Decker B, et al. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing. J Med Genet 2016;53: 298-309.
    • (2016) J Med Genet , vol.53 , pp. 298-309
    • Easton, D.F.1    Lesueur, F.2    Decker, B.3
  • 21
    • 34249989159 scopus 로고    scopus 로고
    • Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
    • Kaurah P, MacMillan A, Boyd N, et al. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007;297: 2360-2372.
    • (2007) JAMA , vol.297 , pp. 2360-2372
    • Kaurah, P.1    MacMillan, A.2    Boyd, N.3
  • 22
    • 0035211026 scopus 로고    scopus 로고
    • Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families
    • Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 2001;121: 1348-1353.
    • (2001) Gastroenterology , vol.121 , pp. 1348-1353
    • Pharoah, P.D.1    Guilford, P.2    Caldas, C.3
  • 23
    • 33645084562 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    • Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006;295: 1379-1388.
    • (2006) JAMA , vol.295 , pp. 1379-1388
    • Walsh, T.1    Casadei, S.2    Coats, K.H.3
  • 24
    • 84876591647 scopus 로고    scopus 로고
    • Hereditary breast cancer: The era of new susceptibility genes
    • Apostolou P, Fostira F. Hereditary breast cancer: The era of new susceptibility genes. Biomed Res Int 2013;2013: 747318.
    • (2013) Biomed Res Int , vol.2013 , pp. 747318
    • Apostolou, P.1    Fostira, F.2
  • 25
    • 77957095631 scopus 로고    scopus 로고
    • Absence of CHEK2∗1100delC mutation in families with hereditary breast cancer in North America
    • Iniesta MD, Gorin MA, Chien LC, et al. Absence of CHEK2∗1100delC mutation in families with hereditary breast cancer in North America. Cancer Genet Cytogenet 2010;202: 136-140.
    • (2010) Cancer Genet Cytogenet , vol.202 , pp. 136-140
    • Iniesta, M.D.1    Gorin, M.A.2    Chien, L.C.3
  • 26
    • 84860389325 scopus 로고    scopus 로고
    • Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals
    • Kuusisto KM, Bebel A, Vihinen M, et al. Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals. Breast Cancer Res 2011;13: R20.
    • (2011) Breast Cancer Res , vol.13 , pp. R20
    • Kuusisto, K.M.1    Bebel, A.2    Vihinen, M.3
  • 27
    • 80053594059 scopus 로고    scopus 로고
    • Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer
    • Cybulski C, Wokolorczyk D, Jakubowska A, et al. Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. J Clin Oncol 2011;29: 3747-3752.
    • (2011) J Clin Oncol , vol.29 , pp. 3747-3752
    • Cybulski, C.1    Wokolorczyk, D.2    Jakubowska, A.3
  • 28
    • 39149141409 scopus 로고    scopus 로고
    • CHEK2∗1100delC genotyping for clinical assessment of breast cancer risk: Meta-analyses of 26,000 patient cases and 27,000 controls
    • Weischer M, Bojesen SE, Ellervik C, et al. CHEK2∗1100delC genotyping for clinical assessment of breast cancer risk: Meta-analyses of 26,000 patient cases and 27,000 controls. J Clin Oncol 2008;26: 542-548.
    • (2008) J Clin Oncol , vol.26 , pp. 542-548
    • Weischer, M.1    Bojesen, S.E.2    Ellervik, C.3
  • 29
    • 84963753261 scopus 로고    scopus 로고
    • Increased risk for other cancers in addition to breast cancer for CHEK2∗1100delC heterozygotes estimated from the Copenhagen General Population Study
    • Naslund-Koch C, Nordestgaard BG, Bojesen SE. Increased risk for other cancers in addition to breast cancer for CHEK2∗1100delC heterozygotes estimated from the Copenhagen General Population Study. J Clin Oncol 2016;34: 1208-1216.
    • (2016) J Clin Oncol , vol.34 , pp. 1208-1216
    • Naslund-Koch, C.1    Nordestgaard, B.G.2    Bojesen, S.E.3
  • 30
    • 3042582651 scopus 로고    scopus 로고
    • CHEK2∗1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies
    • CHEK2∗1100delC and susceptibility to breast cancer: A collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 2004;74: 1175-1182.
    • (2004) Am J Hum Genet , vol.74 , pp. 1175-1182
  • 31
    • 84981713294 scopus 로고    scopus 로고
    • Age-and tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC carriers
    • Schmidt MK, Hogervorst F, van Hien R, et al. Age-and tumor subtype-specific breast cancer risk estimates for CHEK2∗1100delC carriers. J Clin Oncol 2016;34: 2750-2760.
    • (2016) J Clin Oncol , vol.34 , pp. 2750-2760
    • Schmidt, M.K.1    Hogervorst, F.2    Van Hien, R.3
  • 32
    • 84878427286 scopus 로고    scopus 로고
    • The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis
    • Han FF, Guo CL, Liu LH. The effect of CHEK2 variant I157T on cancer susceptibility: Evidence from a meta-analysis. DNA Cell Biol 2013;32: 329-335.
    • (2013) DNA Cell Biol , vol.32 , pp. 329-335
    • Han, F.F.1    Guo, C.L.2    Liu, L.H.3
  • 33
    • 79958071334 scopus 로고    scopus 로고
    • Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome
    • Bonadona V, Bonaiti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011;305: 2304-2310.
    • (2011) JAMA , vol.305 , pp. 2304-2310
    • Bonadona, V.1    Bonaiti, B.2    Olschwang, S.3
  • 34
    • 84860150166 scopus 로고
    • In: {agon RA Adam MP Ardinger HH et al eds. GeneReviews [Internet] Seattle WA: University of Washington Seattle
    • Kohlmann W, Gruber S. Lynch Syndrome. In: {agon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews [Internet] Seattle, WA: University of Washington, Seattle; 1993-2016.
    • (1993) Lynch Syndrome
    • Kohlmann, W.1    Gruber, S.2
  • 35
    • 33749067855 scopus 로고    scopus 로고
    • Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review
    • Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. JAMA 2006;296: 1507-1517.
    • (2006) JAMA , vol.296 , pp. 1507-1517
    • Lindor, N.M.1    Petersen, G.M.2    Hadley, D.W.3
  • 36
    • 44949202465 scopus 로고    scopus 로고
    • The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome
    • Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 2008;123: 444-449.
    • (2008) Int J Cancer , vol.123 , pp. 444-449
    • Watson, P.1    Vasen, H.F.2    Mecklin, J.P.3
  • 37
    • 34347351414 scopus 로고    scopus 로고
    • Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families
    • Chen LM, Yang KY, Little SE, et al. Gynecologic cancer prevention in Lynch syndrome/hereditary nonpolyposis colorectal cancer families. Obstet Gynecol 2007;110: 18-25.
    • (2007) Obstet Gynecol , vol.110 , pp. 18-25
    • Chen, L.M.1    Yang, K.Y.2    Little, S.E.3
  • 38
    • 30944457531 scopus 로고    scopus 로고
    • Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome
    • Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 2006;354: 261-269.
    • (2006) N Engl J Med , vol.354 , pp. 261-269
    • Schmeler, K.M.1    Lynch, H.T.2    Chen, L.M.3
  • 39
    • 84874983859 scopus 로고    scopus 로고
    • Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation
    • Stuckless S, Green J, Dawson L, et al. Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. Clin Genet 2013;83: 359-364.
    • (2013) Clin Genet , vol.83 , pp. 359-364
    • Stuckless, S.1    Green, J.2    Dawson, L.3
  • 40
    • 84964252246 scopus 로고    scopus 로고
    • ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes
    • quiz 263
    • Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 2015;110: 223-262; quiz 263.
    • (2015) Am J Gastroenterol , vol.110 , pp. 223-262
    • Syngal, S.1    Brand, R.E.2    Church, J.M.3
  • 41
    • 84920943765 scopus 로고    scopus 로고
    • Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines
    • Stoffel EM, Mangu PB, Gruber SB, et al. Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. J Clin Oncol 2015;33: 209-217.
    • (2015) J Clin Oncol , vol.33 , pp. 209-217
    • Stoffel, E.M.1    Mangu, P.B.2    Gruber, S.B.3
  • 42
    • 84925582202 scopus 로고    scopus 로고
    • ACOG Practice Bulletin No. 147: Lynch syndrome
    • ACOG Practice Bulletin No. 147: Lynch syndrome. Obstet Gynecol 2014;124: 1042-1054.
    • (2014) Obstet Gynecol , vol.124 , pp. 1042-1054
  • 43
    • 79955050956 scopus 로고    scopus 로고
    • A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families
    • Auranen A, Joutsiniemi T. A systematic review of gynecological cancer surveillance in women belonging to hereditary nonpolyposis colorectal cancer (Lynch syndrome) families. Acta Obstet Gynecol Scand 2011;90: 437-444.
    • (2011) Acta Obstet Gynecol Scand , vol.90 , pp. 437-444
    • Auranen, A.1    Joutsiniemi, T.2
  • 44
    • 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
    • Jarvinen HJ, 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 2009;27: 4793-4797.
    • (2009) J Clin Oncol , vol.27 , pp. 4793-4797
    • Jarvinen, H.J.1    Renkonen-Sinisalo, L.2    Aktan-Collan, K.3
  • 45
    • 33846619639 scopus 로고    scopus 로고
    • Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome
    • Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. Int J Cancer 2007;120: 821-824.
    • (2007) Int J Cancer , vol.120 , pp. 821-824
    • Renkonen-Sinisalo, L.1    Butzow, R.2    Leminen, A.3
  • 46
    • 0141534443 scopus 로고    scopus 로고
    • Gynecologic screening in hereditary nonpolyposis colorectal cancer
    • Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer. Gynecol Oncol 2003;91: 74-80.
    • (2003) Gynecol Oncol , vol.91 , pp. 74-80
    • Rijcken, F.E.1    Mourits, M.J.2    Kleibeuker, J.H.3
  • 47
    • 0037086654 scopus 로고    scopus 로고
    • The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma
    • Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer 2002;94: 1708-1712.
    • (2002) Cancer , vol.94 , pp. 1708-1712
    • Dove-Edwin, I.1    Boks, D.2    Goff, S.3
  • 48
    • 84940049692 scopus 로고    scopus 로고
    • Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: A cohort study
    • Harkness EF, Barrow E, Newton K, et al. Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: A cohort study. J Med Genet 2015;52: 553-556.
    • (2015) J Med Genet , vol.52 , pp. 553-556
    • Harkness, E.F.1    Barrow, E.2    Newton, K.3
  • 49
    • 38349052915 scopus 로고    scopus 로고
    • Nijmegen Breakage Syndrome mutations and risk of breast cancer
    • Bogdanova N, Feshchenko S, Schurmann P, et al. Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer 2008;122: 802-806.
    • (2008) Int J Cancer , vol.122 , pp. 802-806
    • Bogdanova, N.1    Feshchenko, S.2    Schurmann, P.3
  • 50
    • 79955419172 scopus 로고    scopus 로고
    • Genetic variants associated with breast-cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence
    • Zhang B, Beeghly-Fadiel A, Long J, Zheng W. Genetic variants associated with breast-cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 2011;12: 477-488.
    • (2011) Lancet Oncol , vol.12 , pp. 477-488
    • Zhang, B.1    Beeghly-Fadiel, A.2    Long, J.3    Zheng, W.4
  • 51
    • 33745225487 scopus 로고    scopus 로고
    • Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland
    • Steffen J, Nowakowska D, Niwinska A, et al. Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland. Int J Cancer 2006;119: 472-475.
    • (2006) Int J Cancer , vol.119 , pp. 472-475
    • Steffen, J.1    Nowakowska, D.2    Niwinska, A.3
  • 52
    • 84885426057 scopus 로고    scopus 로고
    • Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk
    • Zhang G, Zeng Y, Liu Z, Wei W. Significant association between Nijmegen breakage syndrome 1 657del5 polymorphism and breast cancer risk. Tumour Biol 2013;34: 2753-2757.
    • (2013) Tumour Biol , vol.34 , pp. 2753-2757
    • Zhang, G.1    Zeng, Y.2    Liu, Z.3    Wei, W.4
  • 53
    • 84971671534 scopus 로고    scopus 로고
    • Distinctive cancer associations in patients with neurofibromatosis type 1
    • Uusitalo E, Rantanen M, Kallionpaa RA, et al. Distinctive cancer associations in patients with neurofibromatosis type 1. J Clin Oncol 2016;34: 1978-1986.
    • (2016) J Clin Oncol , vol.34 , pp. 1978-1986
    • Uusitalo, E.1    Rantanen, M.2    Kallionpaa, R.A.3
  • 54
    • 77952091607 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 and high-grade tumors of the central nervous system
    • Rosenfeld A, Listernick R, Charrow J, Goldman S. Neurofibromatosis type 1 and high-grade tumors of the central nervous system. Childs Nerv Syst 2010;26: 663-667.
    • (2010) Childs Nerv Syst , vol.26 , pp. 663-667
    • Rosenfeld, A.1    Listernick, R.2    Charrow, J.3    Goldman, S.4
  • 55
    • 84945561012 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I
    • Nishida T, Tsujimoto M, Takahashi T, et al. Gastrointestinal stromal tumors in Japanese patients with neurofibromatosis type I. J Gastroenterol 2016;51: 571-578.
    • (2016) J Gastroenterol , vol.51 , pp. 571-578
    • Nishida, T.1    Tsujimoto, M.2    Takahashi, T.3
  • 56
    • 33745876263 scopus 로고    scopus 로고
    • A prospective study of neurofibromatosis type 1 cancer incidence in the UK
    • Walker L, Thompson D, Easton D, et al. A prospective study of neurofibromatosis type 1 cancer incidence in the UK. Br J Cancer 2006;95: 233-238.
    • (2006) Br J Cancer , vol.95 , pp. 233-238
    • Walker, L.1    Thompson, D.2    Easton, D.3
  • 57
    • 34447562827 scopus 로고    scopus 로고
    • Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
    • Sharif S, Moran A, Huson SM, et al. Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet 2007;44: 481-484.
    • (2007) J Med Genet , vol.44 , pp. 481-484
    • Sharif, S.1    Moran, A.2    Huson, S.M.3
  • 58
    • 84870239558 scopus 로고    scopus 로고
    • Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years?
    • Evans DG. Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years? Am J Med Genet A 2012;158a: 3054-3055.
    • (2012) Am J Med Genet A , vol.158 A , pp. 3054-3055
    • Evans, D.G.1
  • 59
    • 84928757073 scopus 로고    scopus 로고
    • Age-specific risk of breast cancer in women with neurofibromatosis type 1
    • Seminog OO, Goldacre MJ. Age-specific risk of breast cancer in women with neurofibromatosis type 1. Br J Cancer 2015;112: 1546-1548.
    • (2015) Br J Cancer , vol.112 , pp. 1546-1548
    • Seminog, O.O.1    Goldacre, M.J.2
  • 60
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    • Ferner RE, Huson SM, Thomas N, et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44: 81-88.
    • (2007) J Med Genet , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3
  • 61
    • 84964999648 scopus 로고    scopus 로고
    • Panel testing for familial breast cancer: Calibrating the tension between research and clinical care
    • Thompson ER, Rowley SM, Li N, et al. Panel testing for familial breast cancer: Calibrating the tension between research and clinical care. J Clin Oncol 2016;34: 1455-1459.
    • (2016) J Clin Oncol , vol.34 , pp. 1455-1459
    • Thompson, E.R.1    Rowley, S.M.2    Li, N.3
  • 62
    • 79952741549 scopus 로고    scopus 로고
    • Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    • Casadei S, Norquist BM, Walsh T, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res 2011;71: 2222-2229.
    • (2011) Cancer Res , vol.71 , pp. 2222-2229
    • Casadei, S.1    Norquist, B.M.2    Walsh, T.3
  • 63
    • 84921898753 scopus 로고    scopus 로고
    • Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer
    • Couch FJ, Hart SN, Sharma P, et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol 2015;33: 304-311.
    • (2015) J Clin Oncol , vol.33 , pp. 304-311
    • Couch, F.J.1    Hart, S.N.2    Sharma, P.3
  • 64
    • 84930278374 scopus 로고    scopus 로고
    • Clinical outcomes in women with breast cancer and a PALB2 mutation: A prospective cohort analysis
    • Cybulski C, Kluzniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: A prospective cohort analysis. Lancet Oncol 2015;16: 638-644.
    • (2015) Lancet Oncol , vol.16 , pp. 638-644
    • Cybulski, C.1    Kluzniak, W.2    Huzarski, T.3
  • 65
    • 84905842087 scopus 로고    scopus 로고
    • Breast-cancer risk in families with mutations in PALB2
    • Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med 2014;371: 497-506.
    • (2014) N Engl J Med , vol.371 , pp. 497-506
    • Antoniou, A.C.1    Casadei, S.2    Heikkinen, T.3
  • 66
    • 84892968131 scopus 로고    scopus 로고
    • Integrated analysis of germline and somatic variants in ovarian cancer
    • Kanchi KL, Johnson KJ, Lu C, et al. Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun 2014;5: 3156.
    • (2014) Nat Commun , vol.5 , pp. 3156
    • Kanchi, K.L.1    Johnson, K.J.2    Lu, C.3
  • 67
    • 77957329128 scopus 로고    scopus 로고
    • PALB2/FANCN: Recombining cancer and Fanconi anemia
    • Tischkowitz M, Xia B. PALB2/FANCN: Recombining cancer and Fanconi anemia. Cancer Res 2010;70: 7353-7359.
    • (2010) Cancer Res , vol.70 , pp. 7353-7359
    • Tischkowitz, M.1    Xia, B.2
  • 68
    • 84860320440 scopus 로고    scopus 로고
    • Germline RAD51C mutations confer susceptibility to ovarian cancer
    • author reply 476
    • Loveday C, Turnbull C, Ruark E, et al. Germline RAD51C mutations confer susceptibility to ovarian cancer. Nat Genet 2012;44: 475-476; author reply 476.
    • (2012) Nat Genet , vol.44 , pp. 475-476
    • Loveday, C.1    Turnbull, C.2    Ruark, E.3
  • 69
    • 80052264429 scopus 로고    scopus 로고
    • Germline mutations in RAD51D confer susceptibility to ovarian cancer
    • Loveday C, Turnbull C, Ramsay E, et al. Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat Genet 2011;43: 879-882.
    • (2011) Nat Genet , vol.43 , pp. 879-882
    • Loveday, C.1    Turnbull, C.2    Ramsay, E.3
  • 70
    • 84952641660 scopus 로고    scopus 로고
    • Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population
    • Song H, Dicks E, Ramus SJ, et al. Contribution of germline mutations in the RAD51B, RAD51C, and RAD51D genes to ovarian cancer in the population. J Clin Oncol 2015;33: 2901-2907.
    • (2015) J Clin Oncol , vol.33 , pp. 2901-2907
    • Song, H.1    Dicks, E.2    Ramus, S.J.3
  • 71
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • Hearle N, Schumacher V, Menko FH, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 2006;12: 3209-3215.
    • (2006) Clin Cancer Res , vol.12 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3


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