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Volumn 137, Issue 1, 2015, Pages 86-92

Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2

Author keywords

BRCA1; BRCA2; Hereditary; Lynch syndrome; Multi gene; Next generation sequencing

Indexed keywords

ATM PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; CHECKPOINT KINASE 2; EPITHELIAL CELL ADHESION MOLECULE; MISMATCH REPAIR PROTEIN PMS2; MRE11 PROTEIN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN; PROTEIN BRIP1; PROTEIN KINASE LKB1; PROTEIN MLH1; PROTEIN MRE11A; PROTEIN MSH2; PROTEIN NBN; PROTEIN P53; PROTEIN PALB2; RAD50 PROTEIN; RAD51 PROTEIN; RAD51C PROTEIN; UNCLASSIFIED DRUG; UVOMORULIN; ATM PROTEIN, HUMAN; BRIP1 PROTEIN, HUMAN; CHEK2 PROTEIN, HUMAN; DNA BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; RNA HELICASE;

EID: 84929942719     PISSN: 00908258     EISSN: 10956859     Source Type: Journal    
DOI: 10.1016/j.ygyno.2015.01.537     Document Type: Article
Times cited : (91)

References (40)
  • 2
    • 84875690627 scopus 로고    scopus 로고
    • Latest research and treatment of advanced-stage epithelial ovarian cancer
    • Apr
    • Coleman RL, Monk BJ, Sood AK, Herzog TJ. Latest research and treatment of advanced-stage epithelial ovarian cancer. Nat Rev Clin Oncol Apr 2013;10(4): 211-24.
    • (2013) Nat Rev Clin Oncol , vol.10 , Issue.4 , pp. 211-224
    • Coleman, R.L.1    Monk, B.J.2    Sood, A.K.3    Herzog, T.J.4
  • 4
    • 59049091281 scopus 로고    scopus 로고
    • Meta-analysis of risk reduction estimates associated with risk-reduction salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers
    • Jan 21
    • Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reduction salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst Jan 21 2009;101(2):80-7.
    • (2009) J Natl Cancer Inst , vol.101 , Issue.2 , pp. 80-87
    • Rebbeck, T.R.1    Kauff, N.D.2    Domchek, S.M.3
  • 5
    • 24644490720 scopus 로고    scopus 로고
    • U.S. Preventive Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Systematic evidence review for the U.S. Preventive Services Task Force
    • Sep 6
    • Nelson HD, Huffman LH, Fu R, Harris EL, U.S. Preventive Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med Sep 6 2005;143(5):362-79.
    • (2005) Ann Intern Med , vol.143 , Issue.5 , pp. 362-379
    • Nelson, H.D.1    Huffman, L.H.2    Fu, R.3    Harris, E.L.4
  • 6
    • 85021042961 scopus 로고    scopus 로고
    • American Cancer Society
    • American Cancer Society. Facts and Figs. http://www.cancer.org/acs/groups/ content/@research/documents/webcontent/acspc-042151.pdf; 2014.
    • (2014) Facts and Figs
  • 7
    • 84864592672 scopus 로고    scopus 로고
    • Genetic testing by cancer site ovary
    • Jul-Aug
    • Weisman SW, Weiss SM, Newlin AC. Genetic testing by cancer site ovary. Cancer J Jul-Aug 2012;18(4):320-7.
    • (2012) Cancer J , vol.18 , Issue.4 , pp. 320-327
    • Weisman, S.W.1    Weiss, S.M.2    Newlin, A.C.3
  • 9
    • 0028113345 scopus 로고
    • A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
    • Oct 7
    • Miki Y, Swensen J, Shattuck-Eidens D, Futreal A, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science Oct 7 1994;266(5182):66-71.
    • (1994) Science , vol.266 , Issue.5182 , pp. 66-71
    • Miki, Y.1    Swensen, J.2    Shattuck-Eidens, D.3    Futreal, A.4    Harshman, K.5    Tavtigian, S.6
  • 10
    • 0006713602 scopus 로고
    • Identification of the breast cancer susceptibility gene BRCA2
    • Dec 21-28
    • Wooster R, Bignell G, Lancaster J, Collins N, Gregory S, Gumbs C, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature Dec 21-28 1995;378(6559): 789-92.
    • (1995) Nature , vol.378 , Issue.6559 , pp. 789-792
    • Wooster, R.1    Bignell, G.2    Lancaster, J.3    Collins, N.4    Gregory, S.5    Gumbs, C.6
  • 11
    • 84870540035 scopus 로고    scopus 로고
    • National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology, (Accessed February 22, 2014)
    • National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/familial High-Risk Assessment: Breast and Ovarian (version 4.2013). http://www.nccn.org/professionals/physician-gls/pdf/genetics-screening.pdf. (Accessed February 22, 2014).
    • Genetic/familial High-Risk Assessment: Breast and Ovarian (Version 4.2013)
  • 12
    • 0038744296 scopus 로고    scopus 로고
    • Average risk of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies
    • May
    • Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, et al. Average risk of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet May 2003;72(5):1117-30.
    • (2003) Am J Hum Genet , vol.72 , Issue.5 , pp. 1117-1130
    • Antoniou, A.1    Pharoah, P.D.2    Narod, S.3    Risch, H.A.4    Eyfjord, J.E.5    Hopper, J.L.6
  • 13
    • 84880921751 scopus 로고    scopus 로고
    • Endometrial and ovarian cancer in women with Lynch syndrome: Update in screening and prevention
    • Jun
    • Lu KH, Daniels M. Endometrial and ovarian cancer in women with Lynch syndrome: update in screening and prevention. Fam Cancer Jun 2013;12(2):273-7.
    • (2013) Fam Cancer , vol.12 , Issue.2 , pp. 273-277
    • Lu, K.H.1    Daniels, M.2
  • 15
    • 81055126264 scopus 로고    scopus 로고
    • Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
    • Nov 1
    • Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, 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 Nov 1 2011;108(44): 18032-7.
    • (2011) Proc Natl Acad Sci USA , vol.108 , Issue.44 , pp. 18032-18037
    • Walsh, T.1    Casadei, S.2    Lee, M.K.3    Pennil, C.C.4    Nord, A.S.5    Thornton, A.M.6
  • 16
    • 77951720395 scopus 로고    scopus 로고
    • Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
    • May
    • Meindl A, Hellbrand K, Wiek C, Erven V, Wappenschmidt B, Niederacher D, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet May 2010;42(5):410-4.
    • (2010) Nat Genet , vol.42 , Issue.5 , pp. 410-414
    • Meindl, A.1    Hellbrand, K.2    Wiek, C.3    Erven, V.4    Wappenschmidt, B.5    Niederacher, D.6
  • 17
    • 84904750123 scopus 로고    scopus 로고
    • Clinical evaluation of multiple-gene sequencing panel for hereditary cancer risk assessment
    • Jul 1
    • Kurian AW, Hare EE, Mills MA, Kingham KE, McPherson L, Whittemore AS. Clinical evaluation of multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol Jul 1 2014;32(19):2001-9.
    • (2014) J Clin Oncol , vol.32 , Issue.19 , pp. 2001-2009
    • Kurian, A.W.1    Hare, E.E.2    Mills, M.A.3    Kingham, K.E.4    McPherson, L.5    Whittemore, A.S.6
  • 19
    • 33645084562 scopus 로고    scopus 로고
    • Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer
    • Mar 22
    • Walsh T, Casadei S, Coats KH, Swisher E, Stray SM, Higgins J, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA Mar 22 2006;295(12):1379-88.
    • (2006) JAMA , vol.295 , Issue.12 , pp. 1379-1388
    • Walsh, T.1    Casadei, S.2    Coats, K.H.3    Swisher, E.4    Stray, S.M.5    Higgins, J.6
  • 21
    • 84905731318 scopus 로고    scopus 로고
    • Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: Results from a Breast Cancer Family Registry case- control mutation-screening study
    • Jun 3
    • Damiola F, Pertesi M, Oliver J, Calvez-Kelm FL, Voegele C, Young EL, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case- control mutation-screening study. Breast Cancer Res Jun 3 2014;16(3):R58.
    • (2014) Breast Cancer Res , vol.16 , Issue.3 , pp. R58
    • Damiola, F.1    Pertesi, M.2    Oliver, J.3    Calvez-Kelm, F.L.4    Voegele, C.5    Young, E.L.6
  • 22
    • 77952600845 scopus 로고    scopus 로고
    • Susceptibility pathways in Fanconi's anemia and breast cancer
    • May 20
    • D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med May 20 2010;362(20):1909-19.
    • (2010) N Engl J Med , vol.362 , Issue.20 , pp. 1909-1919
    • D'Andrea, A.D.1
  • 24
    • 84860389325 scopus 로고    scopus 로고
    • Screening for BRCA1, BRCA2, CHEK2, PLAB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutations-negative breast and/or ovarian cancer individuals
    • Feb 28
    • Kuusisto KM, Bebel A, Vihinen M, Schleutker J, Sallinen SL. Screening for BRCA1, BRCA2, CHEK2, PLAB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutations-negative breast and/or ovarian cancer individuals. Breast Cancer Res Feb 28 2011;13(1):R20.
    • (2011) Breast Cancer Res , vol.13 , Issue.1 , pp. R20
    • Kuusisto, K.M.1    Bebel, A.2    Vihinen, M.3    Schleutker, J.4    Sallinen, S.L.5
  • 25
    • 0038745419 scopus 로고    scopus 로고
    • Contributions of ATM mutations to familial breast and ovarian cancer
    • Jun 15
    • Thorstenson YR, Roxas A, Kroiss R, JenkinsMA, Yu KM, Bachrich T, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res Jun 15 2003; 63(12):3325-33.
    • (2003) Cancer Res , vol.63 , Issue.12 , pp. 3325-3333
    • Thorstenson, Y.R.1    Roxas, A.2    Kroiss, R.3    Jenkins, M.A.4    Yu, K.M.5    Bachrich, T.6
  • 26
    • 84893470371 scopus 로고    scopus 로고
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas
    • Feb 1
    • Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res Feb 1 2014;20(3):764-75.
    • (2014) Clin Cancer Res , vol.20 , Issue.3 , pp. 764-775
    • Pennington, K.P.1    Walsh, T.2    Harrell, M.I.3    Lee, M.K.4    Pennil, C.C.5    Rendi, M.H.6
  • 27
    • 79952741549 scopus 로고    scopus 로고
    • Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer
    • Mar 15
    • Casadei S, Norquist BM, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA, et al. Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res Mar 15 2011;71(6):2222-9.
    • (2011) Cancer Res , vol.71 , Issue.6 , pp. 2222-2229
    • Casadei, S.1    Norquist, B.M.2    Stray, S.3    Mandell, J.B.4    Lee, M.K.5    Stamatoyannopoulos, J.A.6
  • 29
    • 84856015503 scopus 로고    scopus 로고
    • Hereditary ovarian cancer: Beyond the usual suspects
    • Feb
    • Pennington KP, Swisher EM. Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol Feb 2012;124(2):347-53.
    • (2012) Gynecol Oncol , vol.124 , Issue.2 , pp. 347-353
    • Pennington, K.P.1    Swisher, E.M.2
  • 31
    • 84908502657 scopus 로고    scopus 로고
    • Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
    • Nov
    • Castera L, Krieger S, Rousselin A, Legros A, Baumann JJ, Bruet O, et al. Nextgeneration sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet Nov 2014;22(11):1305-13.
    • (2014) Eur J Hum Genet , vol.22 , Issue.11 , pp. 1305-1313
    • Castera, L.1    Krieger, S.2    Rousselin, A.3    Legros, A.4    Baumann, J.J.5    Bruet, O.6
  • 33
    • 0037268338 scopus 로고    scopus 로고
    • The Fanconi anaemia/BRCA pathway
    • Jan
    • D'Andrea AD, Grompe M. The Fanconi anaemia/BRCA pathway. Nat Rev Cancer Jan 2003;3(1):23-34.
    • (2003) Nat Rev Cancer , vol.3 , Issue.1 , pp. 23-34
    • D'Andrea, A.D.1    Grompe, M.2
  • 34
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
    • Apr
    • Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007. Genet Med Apr 2008;10(4):294-300.
    • (2008) Genet Med , vol.10 , Issue.4 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3    Das, S.4    Grody, W.W.5    Hegde, M.R.6
  • 35
    • 85071221644 scopus 로고    scopus 로고
    • Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2, 000 patients
    • Apr
    • LaDuca H, Stuenkel AJ, Dolinshky JS, Keiles SK, Tandy S, Pesaran T, et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2, 000 patients. Genet Med Apr 2014;24.
    • (2014) Genet Med , pp. 24
    • Laduca, H.1    Stuenkel, A.J.2    Dolinshky, J.S.3    Keiles, S.K.4    Tandy, S.5    Pesaran, T.6
  • 36
    • 57149093237 scopus 로고    scopus 로고
    • "BRCA" syndrome in ovarian cancer: A case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations
    • Dec 1
    • Tan DSP, Rothermundt C, Thomas K, Bancroft E, Eeles R, Shanely S, et al. "BRCA" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations. J Clin Oncol Dec 1 2008;26(34):5530-6.
    • (2008) J Clin Oncol , vol.26 , Issue.34 , pp. 5530-5536
    • Tan, D.S.P.1    Rothermundt, C.2    Thomas, K.3    Bancroft, E.4    Eeles, R.5    Shanely, S.6
  • 37
    • 84893470371 scopus 로고    scopus 로고
    • Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube and peritoneal carcinomas
    • Feb 1
    • Pennington KP, Walsh T, HarrellM, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube and peritoneal carcinomas. Clin Cancer Res Feb 1 2014;20(3):764-75.
    • (2014) Clin Cancer Res , vol.20 , Issue.3 , pp. 764-775
    • Pennington, K.P.1    Walsh, T.2    Harrell, M.3
  • 38
    • 84901328103 scopus 로고    scopus 로고
    • The validation and clinical implementation of BRCAplus: A comprehensive high-risk breast cancer assay
    • May 15
    • Chong HK, Wang T, Lu HM, Seider S, Lu H, Keiles S, Chao EC, et al. The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer assay. PLoS One May 15 2014;9(5):e97408.
    • (2014) PLoS One , vol.9 , Issue.5
    • Chong, H.K.1    Wang, T.2    Lu, H.M.3    Seider, S.4    Lu, H.5    Keiles, S.6    Chao, E.C.7
  • 39
    • 77955894453 scopus 로고    scopus 로고
    • Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer
    • Aug 1
    • Konstantinopoulos PA, Spentzos D, Karlan B, Taniguchi T, Founzilas E, Fancoeur N, et al. Gene expression profile of BRCAness that correlates with responsiveness to chemotherapy and with outcome in patients with epithelial ovarian cancer. J Clin Oncol Aug 1 2010;28(22):3555-61.
    • (2010) J Clin Oncol , vol.28 , Issue.22 , pp. 3555-3561
    • Konstantinopoulos, P.A.1    Spentzos, D.2    Karlan, B.3    Taniguchi, T.4    Founzilas, E.5    Fancoeur, N.6


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