Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers

Cancer Research

Volumn 69, Issue 14, 2009, Pages 5801-5810

  Rebbeck, Timothy R ^a   Mitra, Nandita ^a   Domchek, Susan M ^a   Wan, Fei ^a   Chuai, Shannon ^a   Friebel, Tara M ^a   Panossian, Saarene ^a   Spurdle, Amanda ^c   Chenevix Trench, Georgia ^c   Singer, Christian F ^d   Pfeiler, Georg ^d   Neuhausen, Susan L ^e   Lynch, Henry T ^f   Garber, Judy E ^g   Weitzel, Jeffrey N ⁱ   Isaacs, Claudine ^j   Couch, Fergus ^k   Narod, Steven A ^l   Rubinstein, Wendy S ^m   Tomlinson, Gail E ^n,p   Ganz, Patricia A ^q   Olopade, Olufunmilayo I ^r   Tung, Nadine ^h   Blum, Joanne L ^o   Greenberg, Roger ^a   Nathanson, Katherine L ^a   Daly, Mary B ^b   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b FOX CHASE CANCER CENTER   (United States)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g DANA FARBER CANCER INSTITUTE   (United States)

^h BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

ⁱ CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^j GEORGETOWN UNIVERSITY   (United States)

^k Mayo Clinic   (United States)

^l WOMEN S COLLEGE HOSPITAL   (Canada)

^m NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

ⁿ UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^o BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^p UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^q UNIVERSITY OF CALIFORNIA   (United States)

^r UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BRCA1 PROTEIN; BRCA2 PROTEIN; MRE11 PROTEIN; NIBRIN; RAD50 PROTEIN; RAD51 PROTEIN;

ADULT; AGED; ARTICLE; BRIP1 GENE; CANCER RISK; CONTROLLED STUDY; CTIP GENE; FEMALE; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TOPBP1 GENE; TUMOR SUPPRESSOR GENE;

ADULT; AGED; AGED, 80 AND OVER; BRCA1 PROTEIN; BRCA2 PROTEIN; CARRIER PROTEINS; CELL CYCLE PROTEINS; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RAD51 RECOMBINASE; RISK FACTORS; RNA HELICASES; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 67651000083     PISSN: 00085472     EISSN: 15387445     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-09-0625     Document Type: Article

References (46)

1. American Cancer Society. Cancer facts and figures. Atlanta (GA): American Cancer Society; 2008.
2. Rebbeck TR, Lynch HT, Neuhausen SL, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N Engl J Med 2002;346:1616-22.
3. Domchek SM, Friebel TM, Neuhausen SL, et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 2006;7:223-9.
4. Begg CB. On the use of familial aggregation in population-based case probands for calculating penetrance [see comment]. J Natl Cancer Inst 2002;94:1221-6.
5. Lee JS, John EM, McGuire V, et al. Breast and OvCa in relatives of cancer patients, with andwithout BRCAmutations. Cancer Epidemiol Biomarkers Prev 2006;15:359-63.
6. Narod SA. Modifiers of risk of hereditary breast and OvCa. Nat Rev Cancer 2002;2:113-23.
7. Phelan CM, Rebbeck TR, Weber BL, et al. OvCa risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet 1996;12:309-11.
8. Runnebaum IB, Wang-Gohrke S, Vesprini D, et al. Progesterone receptor variant increases OvCa risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives. Pharmacogenetics 2001; 11:635-8.
9. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002;108:171-82.
10. Scully R, Xie A, Nagaraju G. Molecular functions of BRCA1 in the DNA damage response. Cancer Biol Ther 2004;3:521-7.
11. Greenberg RA, Sobhian B, Pathania S, Cantor SB, Nakatani Y, Livingston DM. Multifactorial contributions to an acute DNA damage response by BRCA1/BARD1-containing complexes. Genes Dev 2006;20:34-46.
12. Greenberg RA. Recognition of DNA double strand breaks by the BRCA1 tumor suppressor network. Chromosoma 2008;117:305-17.
13. Wang Y, Cortez D, Yazdi P, Neff N, Elledge SJ, Qin J. BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures. Genes Dev 2000;14:927-39.
14. Liu Y, West SC. Distinct functions of BRCA1 and BRCA2 in double-strand break repair. Breast Cancer Res 2002;4:9-13.
15. Orelli BJ, Bishop DK. BRCA2 and homologous recombination. Breast Cancer Res 2001;3:294-8.
16. Yang H, Li Q, Fan J, Holloman WK, Pavletich NP. The BRCA2 homologue Brh2 nucleates RAD51 filament formation at a dsDNA-ssDNA junction. Nature 2005; 433:653-7.
17. Mann GJ, Thorne H, Balleine RL, et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res 2006;8:R12.
18. Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet 2004;75:535-44.
19. Chenevix-Trench G, Healey S, Lakhani S, et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res 2006;66:2019-27.
20. Antoniou AC, Goldgar DE, Andrieu N, et al. A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes. Genet Epidemiol 2005;29:1-11.
21. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and OvCa associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies [erratum appears in Am J Hum Genet 2003 Sep;73:709]. Am J Hum Genet 2003;72:1117-30.
22. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc B 1995;57:289-300.
23. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995;12:921-7.
24. Fallin D, Cohen A, Essioux L, et al. Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease. Genome Res 2001;11:143-51.
25. Sinnwell JP, Schaid DJ. haplo.stats: statistical analysis of haplotypes with traits and covariates when linkage phase is ambiguous. R package version 1.2.2. Rochester (MN): Mayo Clinic; 2005.
26. Wang WW, Spurdle AB, Kolachana P, et al. A single nucleotide polymorphism in the 5′ untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2001;10: 955-60.
27. Kadouri L, Kote-Jarai Z, Hubert A, et al. A single-nucleotide polymorphism in the RAD51 gene modifies breast cancer risk in BRCA2 carriers, but not in BRCA1 carriers or noncarriers. Br J Cancer 2004;90: 2002-5.
28. Antoniou A, Sinilnikova O, Simard J, et al. RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007;81:1186-200.
29. D'Andrea AD, Grompe M. The Fanconi anaemia/ BRCA pathway. Nat Rev Cancer 2003;3:23-34.
30. Taniguchi T, Garcia-Higuera I, Xu B, et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002;109:459-72.
31. Dong Y, Hakimi MA, Chen X, et al. Regulation of BRCC, a holoenzyme complex containing BRCA1 and BRCA2, by a signalosome-like subunit and its role in DNA repair. Mol Cell 2003;12:1087-99.
32. Kumaraswamy E, Shiekhattar R. Activation of BRCA1/BRCA2-associated helicase BACH1 is required for timely progression through S phase. Mol Cell Biol 2007;27:6733-41.
33. Nakanishi K, Taniguchi T, Ranganathan V, et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol 2002;4:913-20.
34. Bogdanova N, Schurmann P, Waltes R, et al. NBS1 variant I171V and breast cancer risk. Breast Cancer Res Treat 2008;112:75-9.
35. Buslov KG, Iyevleva AG, Chekmariova EV, et al. NBS1 657del5 mutation may contribute only to a limited fraction of breast cancer cases in Russia. Int J Cancer 2005;114:585-9.
36. Gorski B, Debniak T, Masojc B, et al. Germline 657del5 mutation in the NBS1 gene in breast cancer patients. Int J Cancer 2003;106:379-81.
37. Hsu HM, Wang HC, Chen ST, Hsu GC, Shen CY, Yu JC. Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. Cancer Epidemiol Biomarkers Prev 2007;16: 2024-32.
38. Kanka C, Brozek I, Skalska B, Siemiatkowska A, Limon J. Germline NBS1 mutations in families with aggregation of Breast and/or OvCa from north-east Poland. Anticancer Res 2007;27:3015-8.
39. Roznowski K, Januszkiewicz-Lewandowska D, Mosor M, Pernak M, Litwiniuk M, Nowak J. I171V germline mutation in the NBS1 gene significantly increases risk of breast cancer. Breast Cancer Res Treat 2008;110:343-8.
40. 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;119:472-5.
41. Kuschel B, Auranen A, McBride S, et al. Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum Mol Genet 2002;11:1399-407.
42. Antoniou AC, Sinilnikova OM, Simard J, et al. RAD51 135G>C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies. Am J Hum Genet 2007;81:1186-200.
43. Levy-Lahad E, Lahad A, Eisenberg S, et al. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers. Proc Natl Acad Sci U S A 2001;98:3232-6.
44. Scully R, Chen J, Plug A, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell 1997;88: 265-75.
45. Jakubowska A, Gronwald J, Menkiszak J, et al. The RAD51 135 G>C polymorphism modifies breast cancer and OvCa risk in Polish BRCA1 mutation carriers. Cancer Epidemiol Biomarkers Prev 2007;16:270-5.
46. Narod SA, Risch H, Moslehi R, et al. Oral contraceptives and the risk of hereditary OvCa. Hereditary OvCa Clinical Study Group. N Engl J Med 1998;339: 424-8.