Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Journal of the National Cancer Institute

Volumn 109, Issue 7, 2017, Pages

  Kuchenbaecker, Karoline B ^a,b   McGuffog, Lesley ^b   Barrowdale, Daniel ^b   Lee, Andrew ^b   Soucy, Penny ^c   Dennis, Joe ^b   Domchek, Susan M ^d   Robson, Mark ^e   Spurdle, Amanda B ^f   Ramus, Susan J ^g,h   Mavaddat, Nasim ^b   Terry, Mary Beth ⁱ   Neuhausen, Susan L ^j   Schmutzler, Rita Katharina ^k   Simard, Jacques ^c   Pharoah, Paul D P ^l   Offit, Kenneth ^e   Couch, Fergus J ^m   Chenevix Trench, Georgia ^f   Easton, Douglas F ^b   Antoniou, Antonis C ^b   Healey, Sue ^f   Lush, Michael ^b   Hamann, Ute ⁿ   Southey, Melissa ^o   John, Esther M ^p   Chung, Wendy K ⁱ   Daly, Mary B ^q   Buys, Saundra S ^r   Goldgar, David E ^s   Dorfling, Cecilia M ^t   van Rensburg, Elizabeth J ^t   Ding, Yuan Chun ^j   Ejlertsen, Bent ^u   Gerdes, Anne Marie ^u   Hansen, Thomas V O ^v   Slager, Susan ^w   Hallberg, Emily ^w   Benitez, Javier ^x,y,z   Osorio, Ana ^x,z   Cohen, Nancy ^j   Lawler, William ^j   Weitzel, Jeffrey N ^aa   Peterlongo, Paolo ^ab   Pensotti, Valeria ^ab,ac   Dolcetti, Riccardo ^ad,ae   Barile, Monica ^af   Bonanni, Bernardo ^af   Azzollini, Jacopo ^ag   Manoukian, Siranoush ^ag   Peissel, Bernard ^ag   Radice, Paolo ^ah   Savarese, Antonella ^ai,aj   Papi, Laura ^ak   Giannini, Giuseppe ^al   Fostira, Florentia ^am   Konstantopoulou, Irene ^am   Adlard, Julian ^an   Brewer, Carole ^ao   Cook, Jackie ^ap   Davidson, Rosemarie ^aq   Eccles, Diana ^ar   Eeles, Ros ^as   Ellis, Steve ^b   EMBRACE, ^b   Frost, Debra ^b   Hodgson, Shirley ^at   Izatt, Louise ^au   Lalloo, Fiona ^av   Ong, Kai ren ^aw   Godwin, Andrew K ^ax   Arnold, Norbert ^ay   Dworniczak, Bernd ^az   Engel, Christoph ^ba   Gehrig, Andrea ^bb   Hahnen, Eric ^k   Hauke, Jan ^k   Kast, Karin ^bc   Meindl, Alfons ^bd   Niederacher, Dieter ^be   Varon Mateeva, Raymonda ^bf   Wang Gohrke, Shan ^bg   Wappenschmidt, Barbara ^k   Barjhoux, Laure ^bh   Collonge Rame, Marie Agnès ^bj   Elan, Camille ^bk   GEMO Study Collaborators, ^bk,bl,bm   Golmard, Lisa ^bk   Barouk Simonet, Emmanuelle ^bn   Lesueur, Fabienne ^bk,bo,bp   Mazoyer, Sylvie ^bi   Sokolowska, Joanna ^bq   StoppaLyonnet, Dominique ^bk,bl,bm   Isaacs, Claudine ^br   Claes, Kathleen B M ^bs   Poppe, Bruce ^bs   de la Hoya, Miguel ^bt   Garcia Barberan, Vanesa ^bt   Aittomäki, Kristiina ^bu   Nevanlinna, Heli ^bv   Ausems, Margreet G E M ^bw   de Lange, J L ^bx,bz   Gomez Garcia, Encarna B ^ca   HEBON, ^by   Hogervorst, Frans B L ^bz   Kets, Carolien M ^cb   Meijers Heijboer, Hanne E J ^cc   Oosterwijk, Jan C ^cd   Rookus, Matti A ^bz   van Asperen, Christi J ^ce   van den Ouweland, Ans M W ^cf   van Doorn, Helena C ^cg   van Os, Theo A M ^ch   Kwong, Ava ^bx,ci,cj   Olah, Edith ^ck   Diez, Orland ^cl   Brunet, Joan ^cm   Lazaro, Conxi ^cn   Teulé, Alex ^cn   Gronwald, Jacek ^co,cp   Jakubowska, Anna ^co,cp   Kaczmarek, Katarzyna ^co,cp   Lubinski, Jan ^co,cp   Sukiennicki, Grzegorz ^co,cp   Barkardottir, Rosa B ^cq,cr   Chiquette, Jocelyne ^cs   Agata, Simona ^ct   Montagna, Marco ^ct   Teixeira, Manuel R ^cu,cv   Investigators, KConFab ^cw   Park, Sue Kyung ^cx   Olswold, Curtis ^w   Tischkowitz, Marc ^cy   Foretova, Lenka ^cz   Gaddam, Pragna ^e   Vijai, Joseph ^e   Pfeiler, Georg ^da   Rappaport Fuerhauser, Christine ^bx,db   Singer, Christian F ^bx,db   Tea, Muy Kheng M ^bx,db   Greene, Mark H ^dc   Loud, Jennifer T ^dc   Rennert, Gad ^dd   Imyanitov, Evgeny N ^de   Hulick, Peter J ^df   Hays, John L ^dg   Piedmonte, Marion ^dh   Rodriguez, Gustavo C ^df   Martyn, Julie ^di   Glendon, Gord ^dj   Mulligan, Anna Marie ^dk,dl   Andrulis, Irene L ^dj,dm   Toland, Amanda Ewart ^dg   Jensen, Uffe Birk ^dn   Kruse, Torben A ^do   Pedersen, Inge Sokilde ^dp   Thomassen, Mads ^do   Caligo, Maria A ^dq   Teo, Soo Hwang ^dr,ds   Berger, Raanan ^dt   Friedman, Eitan ^dt,du   Laitman, Yael ^dt   Arver, Brita ^dv   Borg, Ake ^dw   Ehrencrona, Hans ^dx   Rantala, Johanna ^dv   Olopade, Olufunmilayo I ^dy   Ganz, Patricia A ^dz   Nussbaum, Robert L ^ea   Bradbury, Angela R ^d   Nathanson, Katherine L ^d   Arun, Banu K ^eb   James, Paul ^cw   Karlan, Beth Y ^ec   Lester, Jenny ^ec   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c Université Laval   (Canada)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^f QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^g UNIVERSITY OF NEW SOUTH WALES   (Australia)

^h GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

ⁱ Och Spine at New York Presbyterian Hospitals   (United States)

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

^k UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^l UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^m MAYO CLINIC   (United States)

ⁿ GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^o UNIVERSITY OF MELBOURNE   (Australia)

^p CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^q FOX CHASE CANCER CENTER   (United States)

^r UNIVERSITY OF UTAH   (United States)

^s UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^t UNIVERSITY OF PRETORIA   (South Africa)

^u Mental Health Services CPH   (Denmark)

^v Rigshospitalet   (Denmark)

^w Mayo Clinic   (United Kingdom)

^x Human Genetics Group   (Spain)

^y Centro Nacional de Investigaciones Oncológicas   (Spain)

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

^aa Division of Clinical Cancer Genetics   (United States)

^ab FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^ac Cogentech Cancer Genetic Test Laboratory ^*  (Italy)

^ad CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^ae UNIVERSITY OF QUEENSLAND   (Australia)

^af EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^ag Unit of Medical Genetics   (Italy)

^ah Department of Preventive and Predictive Medicine   (Italy)

^ai NATIONAL CANCER INSTITUTE   (Italy)

^aj REGINA ELENA NATIONAL CANCER INSTITUTE   (Italy)

^ak UNIVERSITY OF FLORENCE   (Italy)

^al SAPIENZA UNIVERSITY OF ROME   (Italy)

^am INSTITUTE OF NANOSCIENCE AND NANOTECHNOLOGY   (Greece)

^an CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^ao ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^ap SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^aq QUEEN ELIZABETH UNIVERSITY HOSPITAL   (United Kingdom)

^ar UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^as INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^at ST GEORGE S HOSPITAL   (United Kingdom)

^au GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^av UNIVERSITY OF MANCHESTER   (United Kingdom)

^aw BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^ax UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^ay UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^az UNIVERSITY OF MÜNSTER   (Germany)

^ba UNIVERSITY OF LEIPZIG   (Germany)

^bb UNIVERSITY OF WÜRZBURG   (Germany)

^bc UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^bd TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^be UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^bf CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^bg UNIVERSITY HOSPITAL ULM   (Germany)

^bh CENTRE LÉON BÉRARD   (France)

^bi UNIVERSITÉ DE LYON   (France)

^bj UNIVERSITY HOSPITAL OF BESANÇON   (France)

^bk INSTITUT CURIE   (France)

^bl INSTITUT CURIE   (France)

^bm UNIVERSITÉ PARIS DESCARTES   (France)

^bn INSTITUT BERGONIÉ   (France)

^bo INSERM U900   (France)

^bp PSL RESEARCH UNIVERSITY   (France)

^bq UNIVERSITÉ DE LORRAINE   (France)

^br GEORGETOWN UNIVERSITY   (United States)

^bs GHENT UNIVERSITY HOSPITAL   (Belgium)

^bt HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^bu HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^bv UNIVERSITY OF HELSINKI   (Finland)

^bw UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^bx Biomedicum Helsinki ^*  (Austria)

^by Hereditary Breast Ovarian Cancer Group   (Netherlands)

^bz NETHERLANDS CANCER INSTITUTE   (Netherlands)

^ca MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^cb RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^cc VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^cd UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^ce LEIDEN UNIVERSITY   (Netherlands)

^cf ERASMUS MEDICAL CENTER   (Netherlands)

^cg ERASMUS MC CANCER INSTITUTE   (Netherlands)

^ch ACADEMIC MEDICAL CENTER   (Netherlands)

^ci HONG KONG SANATORIUM AND HOSPITAL   (Hong Kong)

^cj UNIVERSITY OF HONG KONG   (Hong Kong)

^ck NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^cl UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^cm CATALAN INSTITUTE OF ONCOLOGY   (Spain)

^cn Molecular Genetics Unit   (Spain)

^co BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^cp POMERANIAN MEDICAL UNIVERSITY   (Poland)

^cq Icelandic Cancer Soc PO Box 5420   (Iceland)

^cr UNIVERSITY OF ICELAND   (Iceland)

^cs LAVAL UNIVERSITY   (Canada)

^ct VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^cu PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^cv UNIVERSITY OF PORTO   (Portugal)

^cw PETER MACCALLUM CANCER CENTRE   (Australia)

^cx Seoul National University   (South Korea)

^cy MCGILL UNIVERSITY   (Canada)

^cz MASARYK MEMORIAL CANCER INSTITUTE   (Czech Republic)

^da Austrian Breast and Colorectal Cancer Study Group   (Austria)

^db MEDICAL UNIVERSITY OF VIENNA   (Austria)

^dc NATIONAL CANCER INSTITUTE   (United States)

^dd CLALIT HEALTH SERVICES   (Israel)

^de N N PETROV RESEARCH INSTITUTE OF ONCOLOGY   (Russian Federation)

^df NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^dg OHIO STATE UNIVERSITY   (United States)

^dh ROSWELL PARK CANCER INSTITUTE   (United States)

^di UNIVERSITY OF SYDNEY   (Australia)

^dj MOUNT SINAI HOSPITAL   (Canada)

^dk UNIVERSITY HEALTH NETWORK   (Canada)

^dl UNIVERSITY OF TORONTO   (Canada)

^dm UNIVERSITY OF TORONTO   (Canada)

^dn AARHUS UNIVERSITY HOSPITAL   (Denmark)

^do ODENSE UNIVERSITY HOSPITAL   (Denmark)

^dp AALBORG UNIVERSITY HOSPITAL   (Denmark)

^dq UNIVERSITY HOSPITAL OF PISA   (Italy)

^dr CANCER RESEARCH INITIATIVES FOUNDATION   (Malaysia)

^ds UNIVERSITY OF MALAYA   (Malaysia)

^dt SHEBA MEDICAL CENTER   (Israel)

^du TEL AVIV UNIVERSITY   (Israel)

^dv KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^dw LUND UNIVERSITY   (Sweden)

^dx LUND UNIVERSITY HOSPITAL   (Sweden)

^dy UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^dz UNIVERSITY OF CALIFORNIA   (United States)

^ea UNIVERSITY OF CALIFORNIA   (United States)

^eb UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^ec CEDARS SINAI MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR;

ADULT; AGE; ARTICLE; BREAST CANCER; CANCER PATIENT; CANCER RISK; CANCER SUSCEPTIBILITY; FEMALE; GENE MUTATION; GENOME-WIDE ASSOCIATION STUDY; HUMAN; MAJOR CLINICAL STUDY; OVARY CANCER; POPULATION RESEARCH; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; BREAST NEOPLASMS; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; METABOLISM; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; OVARIAN NEOPLASMS; PROCEDURES; PROGNOSIS; PROPORTIONAL HAZARDS MODEL; RISK ASSESSMENT; RISK FACTOR; STATISTICS AND NUMERICAL DATA; TUMOR SUPPRESSOR GENE; YOUNG ADULT;

ADOLESCENT; ADULT; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MIDDLE AGED; MULTIFACTORIAL INHERITANCE; MUTATION; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; RECEPTORS, ESTROGEN; RISK ASSESSMENT; RISK FACTORS; YOUNG ADULT;

EID: 85016213460     PISSN: 00278874     EISSN: 14602105     Source Type: Journal    
DOI: 10.1093/jnci/djw302     Document Type: Article

References (44)

1. Evans DG, Graham J, O'Connell S, et al. Familial breast cancer: Summary of updated NICE guidance. BMJ. 2013;346:f3829.
2. Clark AS, Domchek SM. Clinical management of hereditary breast cancer syndromes. J Mammary Gland Biol Neoplasia. 2011;16(1):17-25.
3. Parker WH, Jacoby V, Shoupe D, et al. Effect of bilateral oophorectomy on women's long-term health. Womens Health (Lond Engl). 2009;5(5):565-576.
4. Rivera CM, Grossardt BR, Rhodes DJ, et al. Increased mortality for neurological and mental diseases following early bilateral oophorectomy. Neuroepidemiology. 2009;33(1):32-40.
5. Rivera CM, Grossardt BR, Rhodes DJ, et al. Increased cardiovascular mortality after early bilateral oophorectomy. Menopause. 2009;16(1):15-23.
6. Rocca WA, Bower JH, Maraganore DM, et al. Increased risk of cognitive impairment or dementia in women who underwent oophorectomy before menopause. Neurology. 2007;69(11):1074-1083.
7. Eccles DM. Identification of personal risk of breast cancer: Genetics. Breast Cancer Res. 2008;10(suppl 4):S12.
8. Michailidou K, Hall P, Gonzalez-Neira A, et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet. 2013;45(4): 353-361, 361e1-361e2.
9. 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.
10. Michailidou K, Beesley J, Lindstrom S, et al. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet. 2015;47(4):373-380.
11. Kuchenbaecker KB, Neuhausen SL, Robson M, et al. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2014;16(6): 3416.
12. Couch FJ, Wang X, McGuffog L, et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9(3):e1003212.
13. Gaudet MM, Kuchenbaecker KB, Vijai J, et al. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet. 2013; 9(3):e1003173.
14. Chowdhury S, Dent T, Pashayan N, et al. Incorporating genomics into breast and prostate cancer screening: Assessing the implications. Genet Med. 2013; 15(6):423-432.
15. Antoniou AC, Beesley J, McGuffog L, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction. Cancer Res. 2010;70(23): 9742-9754.
16. Milne RL, Antoniou AC. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann Oncol. 2011;22(suppl 1):i11-i17.
17. Antoniou AC, Beesley J, McGuffog L, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Cancer Res. 2010;70(23): 9742-9754.
18. Couch FJ, Wang X, McGuffog L, et al. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013;9(3):e1003212.
19. Mavaddat N, Peock S, Frost D, et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. J Natl Cancer Inst. 2013;105(11):812-822.
20. Mavaddat N, Pharoah PD, Michailidou K, et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst. 2015; 107(5):dvj036.
21. Lin WY, Camp NJ, Ghoussaini M, et al. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. Hum Mol Genet. 2015;24(1):285-298.
22. Ghoussaini M, Edwards SL, Michailidou K, et al. Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat Commun. 2014;4:4999.
23. Bojesen SE, Pooley KA, Johnatty SE, et al. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet. 2013;45(4):371-384, 384e1-384e2.
24. French JD, Ghoussaini M, Edwards SL, et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet. 2013;92(4):489-503.
25. Meyer KB, O'Reilly M, Michailidou K, et al. Fine-scale mapping of the FGFR2 breast cancer risk locus: Putative functional variants differentially bind FOXA1 and E2F1. Am J Hum Genet. 2013;93(6):1046-1060.
26. Dunning AM, Michailidou K, Kuchenbaecker KB, et al. Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. Nat Genet. 2016;48(4):374-386.
27. Southey MC, Goldgar DE, Winqvist R, et al. PALB2, CHEK2 and ATM rare variants and cancer risk: Data from COGS. J Med Genet. 2016;53(12):800-811.
28. BCAC. iCOGS summary results. http://bcac.ccge.medschl.cam.ac.uk/bcac data/icogs-summary-results/. Accessed July 1, 2016.
29. 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):1-11.
30. Harrell FE, Califf RM, Pryor DB, et al. Evaluating the yield of medical tests. JAMA. 1982;247(18):2543-2546.
31. Amin Al Olama A, Benlloch S, Antoniou AC, et al. Risk analysis of prostate cancer in PRACTICAL, a multinational consortium, using 25 known prostate cancer susceptibility loci. Cancer Epidemiol Biomarkers Prev. 2015;24(7): 1121-1129.
32. Aulchenko YS, Ripke S, Isaacs A, et al. GenABEL: An R library for genomewide association analysis. Bioinformatics. 2007;23(10):1294-1296.
33. StataCorp. Stata Statistical Software: Release 13. In. College Station, TX: StataCorp LP; 2013.
34. Lakhani SR, Jacquemier J, Sloane JP, et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst. 1998;90(15):1138-1145.
35. Mavaddat N, Barrowdale D, Andrulis IL, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012;21(1):134-147.
36. Symons MJ, Moore DT. Hazard rate ratio and prospective epidemiological studies. J Clin Epidemiol. 2002;55(9):893-899.
37. Husing A, Canzian F, Beckmann L, et al. Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. J Med Genet. 2012;49(9):601-608.
38. Rocca WA, Grossardt BR, de Andrade M, et al. Survival patterns after oophorectomy in premenopausal women: A population-based cohort study. Lancet Oncol. 2006;7(10):821-828.
39. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 2009;101(2):80-87.
40. NCCN. NCCN clinical practice gudielines in oncology: Genetic/familial highrisk assessment: Breast and ovarian. V1. 2016. http://www.nccn.org/profes sionals/physician-gls/pdf/genetics-screening.pdf. Accessed June 17, 2016.
41. 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.
42. Tung N, Domchek SM, Stadler Z, et al. Counselling framework for moderatepenetrance cancer-susceptibility mutations. Nat Rev Clin Oncol. 2016;13(9): 581-588.
43. Anderson K, Jacobson JS, Heitjan DF, et al. Cost-effectiveness of preventive strategies for women with a BRCA1 or a BRCA2 mutation. Ann Intern Med. 2006;144(6):397-406.
44. Evans DG, Lalloo F, Ashcroft L, et al. Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent. Cancer Epidemiol Biomarkers Prev. 2009;18(8):2318-2324.