Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: Potential modifying effect of BRCA1/BRCA2 mutation carrier status

Breast Cancer Research and Treatment

Volumn 127, Issue 3, 2011, Pages 819-829

  Figueiredo, Jane C ^a   Brooks, Jennifer D ^b   Conti, David V ^a   Poynter, Jenny N ^c   Teraoka, Sharon N ^d   Malone, Kathleen E ^e   Bernstein, Leslie ^f   Lee, Won D ^a   Duggan, David J ^g   Siniard, Ashley ^g   Concannon, Patrick ^d   Capanu, Marinela ^b   Lynch, Charles F ^h   Olsen, Jørgen H ⁱ   Haile, Robert W ^a   Bernstein, Jonine L ^b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF VIRGINIA   (United States)

^e USA   (United States)

^f CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

^g Translational Genomic Research Institute   (United States)

^h UNIVERSITY OF IOWA   (United States)

ⁱ INSTITUTE OF CANCER EPIDEMIOLOGY   (Denmark)

Author keywords

BRCA1; BRCA2; Breast cancer; Contralateral; Haplotype; Polymorphism

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ARTICLE; BREAST CANCER; BREAST CARCINOGENESIS; CANCER RISK; CAUCASIAN; CONTRALATERAL BREAST CANCER; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; UNILATERAL BREAST CANCER;

ADULT; AGED; BREAST NEOPLASMS; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; FEMALE; GENE FREQUENCY; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; QUESTIONNAIRES; RISK; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 79958272589     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-010-1285-1     Document Type: Article

References (29)

1. Y Miki J Swensen D Shattuck-Eidens PA Futreal K Harshman S Tavtigian Q Liu C Cochran LM Bennett W Ding, et al. 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 266 5182 66 71 7545954 10.1126/science.7545954 1:CAS:528:DyaK2MXhtF2ns70%3D (Pubitemid 24345325)
2. R Wooster G Bignell J Lancaster S Swift S Seal J Mangion N Collins S Gregory C Gumbs G Micklem 1995 Identification of the breast cancer susceptibility gene BRCA2 Nature 378 6559 789 792 8524414 10.1038/378789a0 1:CAS:528:DyaK28XltFWi (Pubitemid 26004412)
3. M Ghoussaini PD Pharoah 2009 Polygenic susceptibility to breast cancer: current state-of-the-art Futur Oncol 5 5 689 701 10.2217/fon.09.29
4. PD Pharoah A Antoniou M Bobrow RL Zimmern DF Easton BA Ponder 2002 Polygenic susceptibility to breast cancer and implications for prevention Nat Genet 31 1 33 36 11984562 10.1038/ng853 1:CAS:528:DC%2BD38Xjt1Kgu7g%3D
5. BA Ponder A Antoniou A Dunning DF Easton PD Pharoah 2005 Polygenic inherited predisposition to breast cancer Cold Spring Harb Symp Quant Biol 70 35 41 16869736 10.1101/sqb.2005.70.029 1:CAS:528:DC%2BD28XoslChtL4%3D (Pubitemid 44124855)
6. SA Narod 2006 Modifiers of risk of hereditary breast cancer Oncogene 25 43 5832 5836 16998497 10.1038/sj.onc.1209870 1:CAS:528:DC%2BD28XhtVSgurvK (Pubitemid 44453438)
7. DG Cox P Kraft SE Hankinson DJ Hunter 2005 Haplotype analysis of common variants in the BRCA1 gene and risk of sporadic breast cancer Breast Cancer Res 7 2 R171 R175 15743496 10.1186/bcr973 1:CAS:528:DC%2BD2MXhtFSltL8%3D
8. ML Freedman KL Penney DO Stram S Riley R McKean-Cowdin L Le Marchand D Altshuler CA Haiman 2005 A haplotype-based case-control study of BRCA1 and sporadic breast cancer risk Cancer Res 65 16 7516 7522 16103107 10.1158/0008-5472.CAN-05-0132 1:CAS:528:DC%2BD2MXns1Wqs7g%3D (Pubitemid 41161288)
9. ML Freedman KL Penney DO Stram L Le Marchand JN Hirschhorn LN Kolonel D Altshuler BE Henderson CA Haiman 2004 Common variation in BRCA2 and breast cancer risk: a haplotype-based analysis in the Multiethnic Cohort Hum Mol Genet 13 20 2431 2441 15317758 10.1093/hmg/ddh270 1:CAS:528:DC%2BD2cXnvVOkurk%3D (Pubitemid 39377847)
10. C Baynes CS Healey KA Pooley S Scollen RN Luben DJ Thompson PD Pharoah DF Easton BA Ponder AM Dunning 2007 Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk Breast Cancer Res 9 2 R27 17428325 10.1186/bcr1669 (Pubitemid 350215160)
11. DG Cox SE Hankinson DJ Hunter 2005 No association between BRCA2 N372H and breast cancer risk Cancer Epidemiol Biomarkers Prev 14 5 1353 1354 15894703 10.1158/1055-9965.EPI-04-0848 1:CAS:528:DC%2BD2MXktFCku74%3D (Pubitemid 40656498)
12. CS Healey AM Dunning MD Teare D Chase L Parker J Burn J Chang-Claude A Mannermaa V Kataja DG Huntsman, et al. 2000 A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability Nat Genet 26 3 362 364 11062481 10.1038/81691 1:CAS:528:DC%2BD3cXotVWhtr8%3D
13. AB Spurdle JL Hopper X Chen GS Dite J Cui MR McCredie GG Giles S Ellis-Steinborner DJ Venter B Newman, et al. 2002 The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years Cancer Epidemiol Biomarkers Prev 11 4 413 416 11927503 1:CAS:528: DC%2BD38XjtlCmtrY%3D (Pubitemid 34408222)
14. DJ Hughes SM Ginolhac I Coupier M Corbex B Bressac-de-Paillerets A Chompret YJ Bignon N Uhrhammer C Lasset S Giraud, et al. 2005 Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers Cancer Epidemiol Biomarkers Prev 14 1 265 267 15668505 1:CAS:528:DC%2BD2MXmsVOlsA%3D%3D (Pubitemid 40165312)
15. M Ishitobi Y Miyoshi A Ando S Hasegawa C Egawa Y Tamaki M Monden S Noguchi 2003 Association of BRCA2 polymorphism at codon 784 (Met/Val) with breast cancer risk and prognosis Clin Cancer Res 9 4 1376 1380 12684407 1:CAS:528:DC%2BD3sXislert7k%3D (Pubitemid 36418389)
16. AM Dunning M Chiano NR Smith J Dearden M Gore S Oakes C Wilson M Stratton J Peto D Easton, et al. 1997 Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population Hum Mol Genet 6 2 285 289 9063749 10.1093/hmg/6.2.285 1:CAS:528:DyaK2sXht1anur4%3D (Pubitemid 27078085)
17. N Johnson O Fletcher C Palles M Rudd E Webb G Sellick I dos Santos Silva V McCormack L Gibson A Fraser, et al. 2007 Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility Hum Mol Genet 16 9 1051 1057 17341484 10.1093/hmg/ddm050 1:CAS:528:DC%2BD2sXntVKqsLo%3D (Pubitemid 47062726)
18. A Osorio M de la Hoya R Rodriguez-Lopez JJ Granizo O Diez A Vega M Duran A Carracedo M Baiget T Caldes, et al. 2003 Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations Eur J Hum Genet 11 6 489 492 12774043 10.1038/sj.ejhg.5200969 1:CAS:528:DC%2BD3sXktVCluro%3D (Pubitemid 36722269)
19. JL Bernstein B Langholz RW Haile L Bernstein DC Thomas M Stovall KE Malone CF Lynch JH Olsen H Anton-Culver, et al. 2004 Study design: evaluating gene-environment interactions in the etiology of breast cancer-the WECARE study Breast Cancer Res 6 3 R199 R214 15084244 10.1186/bcr771 1:CAS:528: DC%2BD2cXjslOis7Y%3D
20. CB Begg RW Haile A Borg KE Malone P Concannon DC Thomas B Langholz L Bernstein JH Olsen CF Lynch, et al. 2008 Penetrance and heterogeneity of breast cancer risk among BRCA1/2 carriers: an investigation by the WECARE Study Group JAMA 299 194 201 18182601 10.1001/jama.2007.55-a 1:CAS:528: DC%2BD1cXlslOrsg%3D%3D
21. A Borg RW Haile KE Malone M Capanu A Diep T Torngren S Teraoka CB Begg DC Thomas P Concannon, et al. 2010 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study Hum Mutat 31 3 E1200 E1240 20104584 10.1002/humu.21202 1:CAS:528:DC%2BC3cXktVOns78%3D
22. JL Bernstein S Teraoka RW Haile AL Borresen-Dale BS Rosenstein RA Gatti AT Diep L Jansen DP Atencio JH Olsen, et al. 2003 Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer Hum Mutat 21 5 542 550 12673797 10.1002/humu.10206 1:CAS:528:DC%2BD3sXjslygtrc%3D (Pubitemid 36529552)
23. AL Price NJ Patterson RM Plenge ME Weinblatt NA Shadick D Reich 2006 Principal components analysis corrects for stratification in genome-wide association studies Nat Genet 38 8 904 909 16862161 10.1038/ng1847 1:CAS:528:DC%2BD28XnsVCgsrg%3D (Pubitemid 44141658)
24. S Purcell B Neale K Todd-Brown L Thomas MA Ferreira D Bender J Maller P Sklar PI de Bakker MJ Daly, et al. 2007 PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 3 559 575 17701901 10.1086/519795 1:CAS:528:DC%2BD2sXhtVSqurrL (Pubitemid 47330214)
25. B Langholz O Borgan 1995 Counter matching: a stratified nested case-control sampling method Biometrika 82 69 79 10.1093/biomet/82.1.69
26. M Huberman B Langholz 1999 Application of the missing-indicator method in matched case-control studies with incomplete data Am J Epidemiol 150 12 1340 1345 10604777 1:STN:280:DC%2BD3c%2FmvVaktQ%3D%3D
27. SN Powell LA Kachnic 2003 Roles of BRCA1 and BRCA2 in homologous recombination, DNA replication fidelity and the cellular response to ionizing radiation Oncogene 22 37 5784 5791 12947386 10.1038/sj.onc.1206678 1:CAS:528:DC%2BD3sXmslemt7s%3D (Pubitemid 37176700)
28. KE Malone CB Begg RW Haile A Borg P Concannon L Tellhed S Xue S Teraoka L Bernstein M Capanu, et al. 2010 Population-based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2 J Clin Oncol 28 14 2404 2410 20368571 10.1200/JCO.2009.24.2495 1:CAS:528:DC%2BC3cXnsFOntrY%3D
29. AC Antoniou AB Spurdle OM Sinilnikova S Healey KA Pooley RK Schmutzler B Versmold C Engel A Meindl N Arnold, et al. 2008 Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers Am J Hum Genet 82 4 937 948 18355772 10.1016/j.ajhg.2008.02.008 1:CAS:528:DC%2BD1cXltVKrsbc%3D