메뉴 건너뛰기




Volumn 12, Issue 9, 2014, Pages 1339-1346

Gene panel testing for inherited cancer risk

Author keywords

[No Author keywords available]

Indexed keywords

APC GENE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; COLORECTAL CANCER; FAMILIAL CANCER; GENE; GENE MUTATION; GENE PANEL TESTING; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; MLH1 GENE; MSH2 GENE; OVARY CANCER; PENETRANCE; PTEN GENE; REVIEW; RISK ASSESSMENT; STK11 GENE; TP53 GENE; TUMOR SUPPRESSOR GENE; ETHICS; GENETIC PREDISPOSITION; GENETICS; NEOPLASTIC SYNDROMES, HEREDITARY; PROCEDURES; RISK;

EID: 84907289495     PISSN: 15401405     EISSN: 15401413     Source Type: Journal    
DOI: 10.6004/jnccn.2014.0128     Document Type: Review
Times cited : (122)

References (23)
  • 1
    • 84866467254 scopus 로고    scopus 로고
    • Key principles and clinical applications of "next-generation" DNA sequencing
    • Rizzo JM, Buck MJ. Key principles and clinical applications of "next-generation" DNA sequencing. Cancer Prev Res (Phila) 2012;5:887-900.
    • (2012) Cancer Prev Res (Phila) , vol.5 , pp. 887-900
    • Rizzo, J.M.1    Buck, M.J.2
  • 2
    • 85038648261 scopus 로고    scopus 로고
    • Available at: Accessed May 4, 2014
    • National Cancer Institute. Cancer Genetics Overview (PDQ). Available at: http://www.cancer.gov/cancertopics/pdq/genetics/overview/healthprofessional/allpages#5. Accessed May 4, 2014.
    • Cancer Genetics Overview (PDQ)
  • 3
    • 84880485943 scopus 로고    scopus 로고
    • Existing and emerging technologies for tumor genomic profiling
    • MacConaill LE. Existing and emerging technologies for tumor genomic profiling. J Clin Oncol 2013;31:1815-1824.
    • (2013) J Clin Oncol , vol.31 , pp. 1815-1824
    • MacConaill, L.E.1
  • 4
    • 77952577869 scopus 로고    scopus 로고
    • Recent advances in DNA sequencing methods: General principles of sample preparation
    • Linnarsson S. Recent advances in DNA sequencing methods: general principles of sample preparation. Exp Cell Res 2010;316:1339-1343.
    • (2010) Exp Cell Res , vol.316 , pp. 1339-1343
    • Linnarsson, S.1
  • 5
    • 35348834779 scopus 로고    scopus 로고
    • A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
    • Easton DF, Deffenbaugh AM, Pruss D, et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007;81:873-883.
    • (2007) Am J Hum Genet , vol.81 , pp. 873-883
    • Easton, D.F.1    Deffenbaugh, A.M.2    Pruss, D.3
  • 6
    • 84871613264 scopus 로고    scopus 로고
    • A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: A report from the Colon Cancer Family Registry
    • Thompson BA, Goldgar DE, Paterson C, et al. A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. Hum Mutat 2013;34:200-209.
    • (2013) Hum Mutat , vol.34 , pp. 200-209
    • Thompson, B.A.1    Goldgar, D.E.2    Paterson, C.3
  • 7
    • 84876071726 scopus 로고    scopus 로고
    • Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
    • Domchek SM, Bradbury A, Garber JE, et al. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 2013;31:1267-1270.
    • (2013) J Clin Oncol , vol.31 , pp. 1267-1270
    • Domchek, S.M.1    Bradbury, A.2    Garber, J.E.3
  • 8
    • 81055126264 scopus 로고    scopus 로고
    • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    • Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci U S A 2011;108:18032-18037.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , pp. 18032-18037
    • Walsh, T.1    Casadei, S.2    Lee, M.K.3
  • 9
    • 84906648428 scopus 로고    scopus 로고
    • Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing
    • [abstract]. Abstract CRA1501
    • Churpek J, Walsh T, Zheng Y, et al. Inherited mutations in breast cancer genes in African American breast cancer patients revealed by targeted genomic capture and next-generation sequencing [abstract]. J Clin Oncol 2013;31(Suppl):Abstract CRA1501.
    • (2013) J Clin Oncol , vol.31
    • Churpek, J.1    Walsh, T.2    Zheng, Y.3
  • 11
    • 84873742602 scopus 로고    scopus 로고
    • Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing
    • Norquist BM, Pennington KP, Agnew KJ, et al. Characteristics of women with ovarian carcinoma who have BRCA1 and BRCA2 mutations not identified by clinical testing. Gynecol Oncol 2013;128:483-487.
    • (2013) Gynecol Oncol , vol.128 , pp. 483-487
    • Norquist, B.M.1    Pennington, K.P.2    Agnew, K.J.3
  • 12
    • 20544474516 scopus 로고    scopus 로고
    • Cancer risks and mortality in heterozygous ATM mutation carriers
    • Thompson D, Duedal S, Kirner J, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst 2005;97:813-822.
    • (2005) J Natl Cancer Inst , vol.97 , pp. 813-822
    • Thompson, D.1    Duedal, S.2    Kirner, J.3
  • 13
    • 74549164128 scopus 로고    scopus 로고
    • Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma
    • McWilliams RR, Petersen GM, Rabe KG, et al. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. Cancer 2010;116:203-209.
    • (2010) Cancer , vol.116 , pp. 203-209
    • McWilliams, R.R.1    Petersen, G.M.2    Rabe, K.G.3
  • 14
    • 67651000083 scopus 로고    scopus 로고
    • Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
    • Rebbeck TR, Mitra N, Domchek SM, et al. Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers. Cancer Res 2009;69:5801-5810.
    • (2009) Cancer Res , vol.69 , pp. 5801-5810
    • Rebbeck, T.R.1    Mitra, N.2    Domchek, S.M.3
  • 15
    • 77956193440 scopus 로고    scopus 로고
    • Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
    • Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010;304:967-975.
    • (2010) JAMA , vol.304 , pp. 967-975
    • Domchek, S.M.1    Friebel, T.M.2    Singer, C.F.3
  • 16
    • 69849099009 scopus 로고    scopus 로고
    • Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome
    • Grover S, Stoffel EM, Mercado RC, et al. Colorectal cancer risk perception on the basis of genetic test results in individuals at risk for Lynch syndrome. J Clin Oncol 2009;27:3981-3986.
    • (2009) J Clin Oncol , vol.27 , pp. 3981-3986
    • Grover, S.1    Stoffel, E.M.2    Mercado, R.C.3
  • 17
    • 84885853847 scopus 로고    scopus 로고
    • Variants of uncertain significance in BRCA testing: Evaluation of surgical decisions, risk perception, and cancer distress
    • Culver JO, Brinkerhoff CD, Clague J, et al. Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress. Clin Genet 2013;84:464-472.
    • (2013) Clin Genet , vol.84 , pp. 464-472
    • Culver, J.O.1    Brinkerhoff, C.D.2    Clague, J.3
  • 18
    • 84904269657 scopus 로고    scopus 로고
    • Cancer risk assessment using genetic panel testing: Considerations for clinical application
    • Hiraki S, Rinella ES, Schnabel F, et al. Cancer risk assessment using genetic panel testing: considerations for clinical application. J Genet Couns 2014;23:604-617.
    • (2014) J Genet Couns , vol.23 , pp. 604-617
    • Hiraki, S.1    Rinella, E.S.2    Schnabel, F.3
  • 19
    • 65649112508 scopus 로고    scopus 로고
    • BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer
    • Hall MJ, Reid JE, Burbidge LA, et al. BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 2009;115:2222-2233.
    • (2009) Cancer , vol.115 , pp. 2222-2233
    • Hall, M.J.1    Reid, J.E.2    Burbidge, L.A.3
  • 20
    • 84904260560 scopus 로고    scopus 로고
    • A genetic counselor's guide to using next-generation sequencing in clinical practice
    • Facio FM, Lee K, O'Daniel JM. A genetic counselor's guide to using next-generation sequencing in clinical practice. J Genet Couns 2014;23:455-462.
    • (2014) J Genet Couns , vol.23 , pp. 455-462
    • Facio, F.M.1    Lee, K.2    O'Daniel, J.M.3
  • 21
    • 3543038163 scopus 로고    scopus 로고
    • Decision making with uncertain information: Learning from women in a high risk breast cancer clinic
    • Frost CJ, Venne V, Cunningham D, Gerritsen-McKane R. Decision making with uncertain information: learning from women in a high risk breast cancer clinic. J Genet Couns 2004;13:221-236.
    • (2004) J Genet Couns , vol.13 , pp. 221-236
    • Frost, C.J.1    Venne, V.2    Cunningham, D.3    Gerritsen-McKane, R.4
  • 22
    • 77956110372 scopus 로고    scopus 로고
    • Hereditary diffuse gastric cancer: Updated consensus guidelines for clinical management and directions for future research
    • Fitzgerald RC, Hardwick R, Huntsman D, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet 2010;47:436-444.
    • (2010) J Med Genet , vol.47 , pp. 436-444
    • Fitzgerald, R.C.1    Hardwick, R.2    Huntsman, D.3
  • 23
    • 80054041995 scopus 로고    scopus 로고
    • The coming explosion in genetic testing - is there a duty to recontact?
    • Pyeritz RE. The coming explosion in genetic testing - is there a duty to recontact? N Engl J Med 2011;365:1367-1369.
    • (2011) N Engl J Med , vol.365 , pp. 1367-1369
    • Pyeritz, R.E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.