Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

JAMA

Volumn 317, Issue 23, 2017, Pages 2402-2416

  Kuchenbaecker, Kroline B ^a,b   Hopper, John L ^c   Barnes, Daniel R ^a   Phillips, Kelly Anne ^c,d,e   Mooij, Thea M ^f   Roos Blom, Marie José ^f,g   Jervis, Sarah ^a,h   van Leeuwen, Flora E ^f   Milne, Roger L ^c,i   Andrieu, Nadine ^j,k,l,m   Goldgar, David E ⁿ   Terry, Mary Beth ^o   Rookus, Matti A ^f   Easton, Douglas F ^a   Antoniou, Antonis C ^a   McGuffog, Lesley ^a   Evans, D Gareth ^r   Barrowdale, Daniel ^a   Frost, Debra ^a   Adlard, Julian ^s   Ong, Kai Ren ^bg   Izatt, Louise ^t   Tischkowitz, Marc ^u   Eeles, Ros ^v   Davidson, Rosemarie ^w   Hodgson, Shirley ^x   Ellis, Steve ^a   Nogues, Catherine ^k   Lasset, Christine ^y   Stoppa Lyonnet, Dominique ^k,z,aa   Fricker, Jean Pierre ^ab   Faivre, Laurence ^ac,ad   Berthet, Pascaline ^ae   Hooning, Maartje J ^af   van der Kolk, Lizet E ^f   Kets, Carolien M ^ag   Adank, Muriel A ^ah   John, Esther M ^ai   Chung, Wendy K ^o   Andrulis, Irene L ^aj,ak   Southey, Melissa ^al   Daly, Mary B ^am   Buys, Saundra S ^an   Osorio, Ana ^ao,ap   Engel, Christoph ^aq   Kast, Karin ^ar,as,at   Schmutzler, Rita K ^au   Caldes, Trinidad ^av   Jakubowska, Anna ^aw   Simard, Jacques ^ax   Friedlander, Michael L ^ay,az   McLachlan, Sue Anne ^d,ba   Machackova, Eva ^bb   Foretova, Lenka ^bb   Tan, Yen Y ^bc,bd   Singer, Christian F ^bc   Olah, Edith ^be   Gerdes, Anne Marie ^bf   Arver, Brita ^q   Olsson, Håkan ^p   more..

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d PETER MACCALLUM CANCER CENTRE   (Australia)

^e UNIVERSITY OF MELBOURNE   (Australia)

^f NETHERLANDS CANCER INSTITUTE   (Netherlands)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h UNIVERSITY OF WARWICK   (United Kingdom)

ⁱ CANCER EPIDEMIOLOGY CENTRE   (Australia)

^j INSERM U900   (France)

^k INSTITUT CURIE   (France)

^l PSL RESEARCH UNIVERSITY   (France)

^m PSL RESEARCH UNIVERSITY   (France)

ⁿ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^o Lund University Hospital ^*  (United States)

^p LUND UNIVERSITY HOSPITAL   (Sweden)

^q KAROLINSKA INSTITUTE   (Sweden)

^r UNIVERSITY OF MANCHESTER   (United Kingdom)

^s CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^t GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^u UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^v INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^w QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^x ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^y CENTRE LÉON BÉRARD   (France)

^z INSTITUT CURIE   (France)

^aa UNIVERSITÉ PARIS DESCARTES   (France)

^ab CENTRE PAUL STRAUSS   (France)

^ac Centre F Leclerc   (France)

^ad Medical University of Dijon   (France)

^ae CENTRE FRANÇOIS BACLESSE   (France)

^af ERASMUS MC CANCER INSTITUTE   (Netherlands)

^ag RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ah VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^ai CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^aj UNIVERSITY OF TORONTO   (Canada)

^ak MOUNT SINAI HOSPITAL   (Canada)

^al UNIVERSITY OF MELBOURNE   (Australia)

^am FOX CHASE CANCER CENTER   (United States)

^an UNIVERSITY OF UTAH   (United States)

^ao Structural Biology and Biocomputing Programme   (Spain)

^ap CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^aq UNIVERSITY OF LEIPZIG   (Germany)

^ar UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^as NATIONAL CENTER FOR TUMOR DISEASES NCT   (Germany)

^at GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^au UNIVERSITY OF COLOGNE   (Germany)

^av HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^aw POMERANIAN MEDICAL UNIVERSITY   (Poland)

^ax University Laval   (Canada)

^ay UNIVERSITY OF NEW SOUTH WALES   (Australia)

^az PRINCE OF WALES HOSPITAL   (Australia)

^ba ST VINCENT S HOSPITAL   (Australia)

^bb MASARYK MEMORIAL CANCER INSTITUTE   (Czech Republic)

^bc UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

^bd QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^be NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^bf Mental Health Center Glostrup   (Denmark)

^bg BirminghamWomen's Hospital Healthcare NHS Trust   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; AGED; ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER RISK; COHORT ANALYSIS; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FIRST-DEGREE RELATIVE; FOLLOW UP; FRANCE; GENE LOCATION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MIDDLE AGED; NETHERLANDS; OVARY CANCER; POPULATION RESEARCH; PRIORITY JOURNAL; PROSPECTIVE STUDY; RISK ASSESSMENT; SECOND-DEGREE RELATIVE; TUMOR SUPPRESSOR GENE; UNITED KINGDOM; VERY ELDERLY; YOUNG ADULT; AGE DISTRIBUTION; BREAST NEOPLASMS; FAMILY; GENETICS; INCIDENCE; MUTATION; NEOPLASMS, SECOND PRIMARY; OVARIAN NEOPLASMS; TIME FACTOR;

ADULT; AGE DISTRIBUTION; AGE FACTORS; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; FAMILY; FEMALE; GENES, BRCA1; GENES, BRCA2; HUMANS; INCIDENCE; MIDDLE AGED; MUTATION; NEOPLASMS, SECOND PRIMARY; OVARIAN NEOPLASMS; PROSPECTIVE STUDIES; RISK ASSESSMENT; TIME FACTORS;

EID: 85021167654     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2017.7112     Document Type: Article

References (29)

1. Hartmann LC, Lindor NM. The role of risk-reducing surgery in hereditary breast and ovarian cancer. N Engl J Med. 2016;374(5):454-468.
2. Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-1130.
3. Antoniou AC, Cunningham AP, Peto J, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98(8):1457-1466.
4. Begg CB, Haile RW, Borg A, et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA. 2008;299(2):194-201.
5. Brohet RM, Velthuizen ME, Hogervorst FB, et al; HEBON Resource. Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. J Med Genet. 2014;51(2):98-107.
6. Chen S, Iversen ES, Friebel T, et al. Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol. 2006;24 (6):863-871.
7. Ford D, Easton DF, Stratton M, et al; Breast Cancer Linkage Consortium. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62(3):676-689.
8. Gabai-Kapara E, Lahad A, Kaufman B, et al. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci U S A. 2014;111(39):14205-14210.
9. Hopper JL, Southey MC, Dite GS, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Cancer Epidemiol Biomarkers Prev. 1999;8(9):741-747.
10. Milne RL, Osorio A, Cajal TR, et al. The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res. 2008;14(9):2861-2869.
11. Evans DG, Shenton A, Woodward E, Lalloo F, Howell A, Maher ER. Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer. 2008;8:155.
12. Milne RL, Antoniou AC. Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers. Endocr Relat Cancer. 2016;23(10):T69-T84.
13. Mavaddat N, Peock S, Frost D, et al; EMBRACE. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812-822.
14. Evans DG, Harkness E, Lalloo F, Howell A. Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies. J Med Genet. 2014;51(9):573-580.
15. Senst N, Llacuachaqui M, Lubinski J, et al; Hereditary Breast Cancer Study Group. Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation. Clin Genet. 2013;84(1):43-46.
16. Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001;68(2):410-419.
17. Thompson D, Easton D; Breast Cancer Linkage Consortium. Variation in BRCA1 cancer risks by mutation position. Cancer Epidemiol Biomarkers Prev. 2002;11(4):329-336.
18. Rebbeck TR, Mitra N, Wan F, et al; CIMBA Consortium. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313(13):1347-1361.
19. Lin DYW. The robust inference for the Cox proportional hazards model. J AmStat Assoc. 1989; 84:1074-1078.
20. Peto J, Mack TM. High constant incidence in twins and other relatives of women with breast cancer. Nat Genet. 2000;26(4):411-414.
21. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11): 1329-1333.
22. Graeser MK, Engel C, Rhiem K, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2009;27(35):5887- 5892.
23. Metcalfe K, Gershman S, Lynch HT, et al. Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2011;104 (9):1384-1392.
24. Goss PE, Ingle JN, Pritchard KI, et al. Extending aromatase-inhibitor adjuvant therapy to 10 years. N Engl J Med. 2016;375(3):209-219.
25. Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2013;31(25):3091-3099.
26. Antoniou AC, Spurdle AB, Sinilnikova OM, et al; Kathleen Cuningham Consortium for Research Into Familial Breast Cancer; OCGN; Swedish BRCA1 and BRCA2 Study Collaborators; DNA-HEBON Collaborators; EMBRACE; GEMO; CIMBA. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2008;82(4): 937-948.
27. Couch FJ, Wang X, McGuffog L, et al; kConFab Investigators; SWE-BRCA; Ontario Cancer Genetics Network; HEBON; EMBRACE; GEMO Study Collaborators; BCFR; CIMBA. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9(3):e1003212.
28. Kuchenbaecker KB, Ramus SJ, Tyrer J, et al. Identification of six new susceptibility loci for invasive epithelial ovarian cancer. Nat Genet. 2015; 47(2):164-171.
29. Gaudet MM, Kuchenbaecker KB, Vijai J, et al; KConFab Investigators; Ontario Cancer Genetics Network; HEBON; EMBRACE; GEMO Study Collaborators; GENICA Network. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013;9(3):e1003173.