Refined histopathological predictors of BRCA1 and BRCA2 mutation status: A large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

Breast Cancer Research

Volumn 16, Issue 1, 2014, Pages

  Spurdle, Amanda B ^a   Couch, Fergus J ^b   Parsons, Michael T ^a   McGuffog, Lesley ^c   Barrowdale, Daniel ^c   Bolla, Manjeet K ^c   Wang, Qin ^c   Healey, Sue ^a   Schmutzler, Rita Katharina ^d   Wappenschmidt, Barbara ^d   Rhiem, Kerstin ^d   Hahnen, Eric ^d   Engel, Christoph ^e   Meindl, Alfons ^f   Ditsch, Nina ^g   Arnold, Norbert ^h   Plendl, Hansjoerg ^h   Niederacher, Dieter ⁱ   Sutter, Christian ^j   Wang Gohrke, Shan ^k   Steinemann, Doris ^l   Preisler Adams, Sabine ^m   Kast, Karin ⁿ   Varon Mateeva, Raymonda ^o   Ellis, Steve ^c   Frost, Debra ^c   Platte, Radka ^c   Perkins, Jo ^c   Gareth Evans, D ^p   Izatt, Louise ^q   Eeles, Ros ^r   Adlard, Julian ^s   Davidson, Rosemarie ^t   Cole, Trevor ^u   Scuvera, Giulietta ^v   Manoukian, Siranoush ^v   Bonanni, Bernardo ^w   Mariette, Frederique ^x,y   Fortuzzi, Stefano ^x,y   Viel, Alessandra ^z   Pasini, Barbara ^aa,ab   Papi, Laura ^ac   Varesco, Liliana ^ad   Balleine, Rosemary ^ae   Nathanson, Katherine L ^af   Domchek, Susan M ^af   Offitt, Kenneth ^ag   Jakubowska, Anna ^ah   Lindor, Noralane ^ai   Thomassen, Mads ^aj   Jensen, Uffe Birk ^ak   Rantala, Johanna ^al   Borg, Åke ^am   Andrulis, Irene L ^an,ao   Miron, Alexander ^ap   Hansen, Thomas V O ^aq   Caldes, Trinidad ^ar   Neuhausen, Susan L ^as   Toland, Amanda E ^at   Nevanlinna, Heli ^au   Montagna, Marco ^av   Garber, Judy ^aw   Godwin, Andrew K ^ax   Osorio, Ana ^ay,az   Factor, Rachel E ^ba   Terry, Mary B ^bb   Rebbeck, Timothy R ^af   Karlan, Beth Y ^bc   Southey, Melissa ^bd   Rashid, Muhammad Usman ^be,bf   Tung, Nadine ^bg   Pharoah, Paul D P ^c   Blows, Fiona M ^c   Dunning, Alison M ^c   Provenzano, Elena ^c   Hall, Per ^bh   Czene, Kamila ^bh   Schmidt, Marjanka K ^bi   Broeks, Annegien ^bi   Cornelissen, Sten ^bi   Verhoef, Senno ^bi   Fasching, Peter A ^bj,bk   Beckmann, Matthias W ^bk   Ekici, Arif B ^bk   Slamon, Dennis J ^bj   Bojesen, Stig E ^bl,bm   Nordestgaard, Børge G ^bl,bm   Nielsen, Sune F ^bl   Flyger, Henrik ^bl   Chang Claude, Jenny ^be   Flesch Janys, Dieter ^bn   Rudolph, Anja ^be   Seibold, Petra ^be   Aittomäki, Kristiina ^au   Muranen, Taru A ^au   Carl Blomqvist, Päivi Heikkilä ^au   Figueroa, Jonine ^bo   Chanock, Stephen J ^bo   Brinton, Louise ^bo   Lissowska, Jolanta ^bp   Olson, Janet E ^b   Pankratz, Vernon S ^b   John, Esther M ^bq,br   Whittemore, Alice S ^br   West, Dee W ^bq,br   Hamann, Ute ^be   Torres, Diana ^be,bs   Ulmer, Hans Ulrich ^bt   Rüdiger, Thomas ^bu   Devilee, Peter ^bv   Tollenaar, Robert A E M ^bv   Seynaeve, Caroline ^bw   Van Asperen, Christi J ^bv   Eccles, Diana M ^bx   Tapper, William J ^bx   Durcan, Lorraine ^bx   Jones, Louise ^by   Peto, Julian ^bz   dos Santos Silva, Isabel ^bz   Fletcher, Olivia ^ca   Johnson, Nichola ^ca   Dwek, Miriam ^cb   Swann, Ruth ^cb   Bane, Anita L ^cc,cd   Glendon, Gord ^ao   Mulligan, Anna M ^an,ce   Giles, Graham G ^cf,cg   Milne, Roger L ^cf,cg   Baglietto, Laura ^cf,cg   McLean, Catriona ^ch   Carpenter, Jane ^ci   Clarke, Christine ^ci   Scott, Rodney ^cj,ck   Brauch, Hiltrud ^cl,cm   Brüning, Thomas ^cn   Ko, Yon Dschun ^co   Cox, Angela ^cp   Cross, Simon S ^cp   Reed, Malcolm W R ^cp   Lubinski, Jan ^ah   Jaworska Bieniek, Katarzyna ^ah   Durda, Katarzyna ^ah   Gronwald, Jacek ^ah   Dörk, Thilo ^l   Bogdanova, Natalia ^l   Park Simon, Tjoung Won ^l   Hillemanns, Peter ^l   Haiman, Christopher A ^cq   Henderson, Brian E ^cq   Schumacher, Fredrick ^cq   Marchand, Loic Le ^cr   Burwinkel, Barbara ^be,cs   Marme, Frederik ^cs   Surovy, Harald ^be,cs   Yang, Rongxi ^be,cs   Anton Culver, Hoda ^ct   Ziogas, Argyrios ^ct   Hooning, Maartje J ^bw   Collée, J Margriet ^bw   Martens, John W M ^bw   Tilanus Linthorst, Madeleine M A ^bw   Brenner, Hermann ^be   Dieffenbach, Aida Karina ^be   Arndt, Volke ^be   Stegmaier, Christa ^cu   Winqvist, Robert ^cv   Pylkäs, Katri ^cv   Jukkola Vuorinen, Arja ^cw   Grip, Mervi ^cw   Lindblom, Annika ^bh   Margolin, Sara ^bh   Joseph, Vijai ^ag   Robson, Mark ^ag   Rau Murthy, Rohini ^ag   González Neira, Anna ^ay   Arias, José Ignacio ^cx   Zamora, Pilar ^cy   Benítez, Javier ^ay,az   Mannermaa, Arto ^cz,da   Kataja, Vesa ^cz,da   Kosma, Veli Matti ^cz,da   Hartikainen, Jaana M ^cz,da   Peterlongo, Paolo ^x   Zaffaroni, Daniela ^v   Barile, Monica ^w   Capra, Fabio ^x,y   Radice, Paolo ^v   Teo, Soo H ^db,dc   Easton, Douglas F ^c   Antoniou, Antonis C ^c   Chenevix Trench, Georgia ^a   Goldgar, David E ^dd   more..

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF LEIPZIG   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g UNIVERSITY OF MUNICH   (Germany)

^h UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

ⁱ UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^j UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^k UNIVERSITY HOSPITAL ULM   (Germany)

^l HANNOVER MEDICAL SCHOOL   (Germany)

^m UNIVERSITY OF MÜNSTER   (Germany)

ⁿ UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p UNIVERSITY OF MANCHESTER   (United Kingdom)

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

^r INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^s CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^t SOUTHERN GENERAL HOSPITAL   (United Kingdom)

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

^v NATIONAL CANCER INSTITUTE   (Italy)

^w EUROPEAN INSTITUTE OF ONCOLOGY   (Italy)

^x FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^y Fondazione Istituto FIRC di Oncologia Molecolare ^*  (Italy)

^z CENTRO DI RIFERIMENTO ONCOLOGICO   (Italy)

^aa UNIVERSITY OF TURIN   (Italy)

^ab CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^ac UNIVERSITY OF FLORENCE   (Italy)

^ad UNIVERSITY OF GENOA   (Italy)

^ae WESTMEAD HOSPITAL   (Australia)

^af UNIVERSITY OF PENNSYLVANIA   (United States)

^ag MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^ah POMERANIAN MEDICAL UNIVERSITY   (Poland)

^ai MAYO CLINIC   (United States)

^aj ODENSE UNIVERSITY HOSPITAL   (Denmark)

^ak AARHUS UNIVERSITY HOSPITAL   (Denmark)

^al KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^am LUND UNIVERSITY   (Sweden)

^an UNIVERSITY OF TORONTO   (Canada)

^ao MOUNT SINAI HOSPITAL   (Canada)

^ap CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^aq Rigshospitalet   (Denmark)

^ar HOSPITAL CLÍNICO SAN CARLOS   (Spain)

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

^at OHIO STATE UNIVERSITY   (United States)

^au HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^av VENETO INSTITUTE OF ONCOLOGY IOV IRCCS   (Italy)

^aw DANA FARBER CANCER INSTITUTE   (United States)

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

^ay Centro Nacional de Investigaciones Oncológicas   (Spain)

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

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

^bb Och Spine at New York Presbyterian Hospitals   (United States)

^bc CEDARS SINAI MEDICAL CENTER   (United States)

^bd UNIVERSITY OF MELBOURNE   (Australia)

^be GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^bf SHAUKAT KHANUM MEMORIAL CANCER HOSPITAL AND RESEARCH CENTRE   (Pakistan)

^bg Karolinska Institutet ^*  (United States)

^bh KAROLINSKA INSTITUTE   (Sweden)

^bi ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^bj UNIVERSITY OF CALIFORNIA   (United States)

^bk UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^bl GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^bm UNIVERSITY OF COPENHAGEN   (Denmark)

^bn UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^bo NATIONAL CANCER INSTITUTE   (United States)

^bp INSTITUTE OF ONCOLOGY   (Poland)

^bq CANCER PREVENTION INSTITUTE OF CALIFORNIA   (United States)

^br STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bs PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

^bt Frauenklinik der Stadtklinik Baden Baden   (Germany)

^bu STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^bv LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^bw ERASMUS MEDICAL CENTER   (Netherlands)

^bx UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^by QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^bz LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^ca INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^cb UNIVERSITY OF WESTMINSTER   (United Kingdom)

^cc HAMILTON HEALTH SCIENCES   (Canada)

^cd MCMASTER UNIVERSITY   (Canada)

^ce UNIVERSITY HEALTH NETWORK   (Canada)

^cf CANCER EPIDEMIOLOGY CENTRE   (Australia)

^cg UNIVERSITY OF MELBOURNE   (Australia)

^ch ALFRED HOSPITAL   (Australia)

^ci UNIVERSITY OF SYDNEY   (Australia)

^cj UNIVERSITY OF NEWCASTLE   (Australia)

^ck JOHN HUNTER HOSPITAL   (Australia)

^cl UNIVERSITY OF TÜBINGEN   (Germany)

^cm DR MARGARETE FISCHER BOSCH INSTITUTE OF CLINICAL PHARMACOLOGY   (Germany)

^cn INSTITUT DER RUHR UNIVERSITÄT BOCHUM IPA   (Germany)

^co Johanniter Krankenhaus   (Germany)

^cp UNIVERSITY OF SHEFFIELD   (United Kingdom)

^cq UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^cr UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^cs UNIVERSITY OF HEIDELBERG   (Germany)

^ct UNIVERSITY OF CALIFORNIA   (United States)

^cu SAARLAND CANCER REGISTRY   (Germany)

^cv UNIVERSITY OF OULU   (Finland)

^cw OULU UNIVERSITY HOSPITAL   (Finland)

^cx HOSPITAL MONTE NARANCO   (Spain)

^cy HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^cz UNIVERSITY OF EASTERN FINLAND   (Finland)

^da KUOPIO UNIVERSITY HOSPITAL   (Finland)

^db CANCER RESEARCH INITIATIVES FOUNDATION   (Malaysia)

^dc UNIVERSITY OF MALAYA   (Malaysia)

^dd UNIVERSITY OF UTAH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; ESTROGEN RECEPTOR;

ADULT; AGE; ARTICLE; BRCA2 GENE; BREAST CANCER; CANCER GRADING; CARCINOGENESIS; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIATION; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; PHENOTYPE; STATISTICAL MODEL; TRIPLE NEGATIVE BREAST CANCER; TUMOR INVASION; TUMOR SUPPRESSOR GENE;

EID: 84928752028     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/s13058-014-0474-y     Document Type: Article

References (56)

1. Armes JE, Egan AJ, Southey MC, Dite GS, McCredie MR, Giles GG, et al. The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study. Cancer. 1998;83:2335-45
2. Lakhani SR, Jacquemier J, Sloane JP, Gusterson BA, Anderson TJ, van de Vijver MJ, et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst. 1998;90:1138-45
3. Southey MC, Ramus SJ, Dowty JG, Smith LD, Tesoriero AA, Wong EE, et al. Morphological predictors of BRCA1 germline mutations in young women with breast cancer. Br J Cancer. 2011;104:903-9
4. Lakhani SR, Van De Vijver MJ, Jacquemier J, Anderson TJ, Osin PP, McGuffog L, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol. 2002;20:2310-8
5. Foulkes WD, Stefansson IM, Chappuis PO, Begin LR, Goffin JR, Wong N, et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst. 2003;95:1482-5
6. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res. 2005;11:5175-80
7. Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, et al. Estrogen receptor status in BRCA1-and BRCA2-related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res. 2004;10:2029-34
8. Foulkes WD, Brunet JS, Stefansson IM, Straume O, Chappuis PO, Begin LR, et al. The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer. Cancer Res. 2004;64:830-5
9. Laakso M, Loman N, Borg A, Isola J. Cytokeratin 5/14-positive breast cancer: true basal phenotype confined to BRCA1 tumors. Mod Pathol. 2005;18:1321-8
10. Mulligan AM, Pinnaduwage D, Bane AL, Bull SB, O'Malley FP, Andrulis IL. CK8/18 expression, the basal phenotype, and family history in identifying BRCA1-associated breast cancer in the Ontario site of the breast cancer family registry. Cancer. 2011;117:1350-9
11. Phuah SY, Looi LM, Hassan N, Rhodes A, Dean S, Taib NA, et al. Triplenegative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer. Breast Cancer Res. 2012;14:R142
12. Martins FC, De S, Almendro V, Gonen M, Park SY, Blum JL, et al. Evolutionary pathways in BRCA1-associated breast tumors. Cancer Discov. 2012;2:503-11
13. Bane AL, Beck JC, Bleiweiss I, Buys SS, Catalano E, Daly MB, et al. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol. 2007;31:121-8
14. Lakhani SR, Gusterson BA, Jacquemier J, Sloane JP, Anderson TJ, van de Vijver MJ, et al. The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2. Clin Cancer Res. 2000;6:782-9
15. Larsen MJ, Kruse TA, Tan Q, Laenkholm AV, Bak M, Lykkesfeldt AE, et al. Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. PLoS One. 2013;8:e64268
16. Mavaddat N, Rebbeck TR, Lakhani SR, Easton DF, Antoniou AC. Incorporating tumour pathology information into breast cancer risk prediction algorithms. Breast Cancer Res. 2010;12:R28
17. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98:1457-66
18. Evans DG, Howell A, Ward D, Lalloo F, Jones JL, Eccles DM. Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer. J Med Genet. 2011;48:520-2
19. Evans DG, Lalloo F, Cramer A, Jones EA, Knox F, Amir E, et al. Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing. J Med Genet. 2009;46:811-7
20. Rummel S, Varner E, Shriver CD, Ellsworth RE. Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. Breast Cancer Res Treat. 2013;137:119-25
21. Gonzalez-Angulo AM, Timms KM, Liu S, Chen H, Litton JK, Potter J, et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17:1082-9
22. Andres R, Pajares I, Balmana J, Llort G, Ramon YCT, Chirivella I, et al. Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC). Clin Transl Oncol. 2013;16:280-4
23. Vargas AC, Da Silva L, Lakhani SR. The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers. Fam Cancer. 2010;9:545-53
24. de la Cruz J, Andre F, Harrell RK, Bassett Jr RL, Arun B, Mathieu MC, et al. Tissue-based predictors of germ-line BRCA1 mutations: implications for triaging of genetic testing. Hum Pathol. 2012;43:1932-9
25. 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
26. Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, et al. Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis-a report from the kConFab Investigators. J Clin Oncol. 2008;26:1657-63
27. Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, et al. Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res. 2006;66:2019-27
28. Spearman AD, Sweet K, Zhou XP, McLennan J, Couch FJ, Toland AE. Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. J Clin Oncol. 2008;26:5393-400
29. Sweet K, Senter L, Pilarski R, Wei L, Toland AE. Characterization of BRCA1 ring finger variants of uncertain significance. Breast Canc Res Treat. 2010;119:737-43
30. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, et al. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012;33:2-7
31. The Consortium of Investigators of Modifiers of BRCA1 and BRCA2. [http://ccge.medschl.cam.ac.uk/consortia/cimba/]
32. Chenevix-Trench G, Milne RL, Antoniou AC, Couch FJ, Easton DF, Goldgar DE. An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA). Breast Cancer Res. 2007; 9:104
33. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna H, 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;21:134-47
34. Breast Cancer AC. [http://ccge.medschl.cam.ac.uk/consortia/bcac/]
35. Breast Cancer Association Consortium. Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium. J Natl Cancer Inst. 2006;98:1382-96
36. Broeks A, Schmidt MK, Sherman ME, Couch FJ, Hopper JL, Dite GS, et al. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2011;20:3289-303
37. Rothman KJ, Boice JD. Epidemiologic analysis with a programmable calculator. Brookline, MA: Epidemiology Resources Inc.; 1982
38. Greenland S, Robins JM. Estimation of a common effect parameter from sparse follow-up data. Biometrics. 1985;41:55-68
39. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, 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;72:1117-30
40. Tung N, Wang Y, Collins LC, Kaplan J, Li H, Gelman R, et al. Estrogen receptor positive breast cancers in BRCA1 mutation carriers: clinical risk factors and pathologic features. Breast Cancer Res. 2010;12:R12
41. Vaziri SA, Krumroy LM, Elson P, Budd GT, Darlington G, Myles J, et al. Breast tumor immunophenotype of BRCA1-mutation carriers is influenced by age at diagnosis. Clin Cancer Res. 2001;7:1937-45
42. Tun NM, Villani G, Ong K, Yoe L, Bo ZM. Risk of having BRCA1 mutation in high-risk women with triple-negative breast cancer: a meta-analysis. Clin Genet. 2013;85:43-8
43. Zhang J, Pei R, Pang Z, Ouyang T, Li J, Wang T, et al. Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. Breast Canc Res Treat. 2012;132:421-8
44. Seong MW, Kim KH, Chung IY, Kang E, Lee JW, Park SK, et al. A multiinstitutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients. Breast Canc Res Treat. 2014;146:63-9
45. Sharma P, Klemp JR, Kimler BF, Mahnken JD, Geier LJ, Khan QJ, et al. Germline BRCA mutation evaluation in a prospective triple-negative breast cancer registry: implications for hereditary breast and/or ovarian cancer syndrome testing. Breast Cancer Res Treat. 2014;145:707-14
46. Lips EH, Laddach N, Savola SP, Vollebergh MA, Oonk AM, Imholz AL, et al. Quantitative copy number analysis by Multiplex Ligation-dependent Probe Amplification (MLPA) of BRCA1-associated breast cancer regions identifies BRCAness. Breast Cancer Res. 2011;13:R107
47. Schouten PC, van Dyk E, Braaf LM, Mulder L, Lips EH, de Ronde JJ, et al. Platform comparisons for identification of breast cancers with a BRCA-like copy number profile. Breast Cancer Res Treat. 2013;139:317-27
48. Joosse SA, Brandwijk KI, Devilee P, Wesseling J, Hogervorst FB, Verhoef S, et al. Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH. Breast Cancer Res Treat. 2012;132:379-89
49. Lips EH, Mulder L, Oonk A, van der Kolk LE, Hogervorst FB, Imholz AL, et al. Triple-negative breast cancer: BRCAness and concordance of clinical features with BRCA1-mutation carriers. Br J Cancer. 2013;108:2172-7
50. Parsons MT, Buchanan DD, Thompson B, Young JP, Spurdle AB. Correlation of tumour BRAF mutations and MLH1 methylation with germline mismatch repair (MMR) gene mutation status: a literature review assessing utility of tumour features for MMR variant classification. J Med Genet. 2012;49:151-7
51. Flanagan JM, Cocciardi S, Waddell N, Johnstone CN, Marsh A, Henderson S, et al. kConFab I, Khanna K, Lakhani S, BoshoffC, Chenevix-Trench G: DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status. Am J Hum Genet. 2010;86:420-33
52. Kaplan JS, Schnitt SJ, Collins LC, Wang Y, Garber JE, Montgomery K, et al. Pathologic features and immunophenotype of estrogen receptor-positive breast cancers in BRCA1 mutation carriers. Am J Surg Pathol. 2012;36:1483-8
53. Fujiwara M, McGuire VA, Felberg A, Sieh W, Whittemore AS, Longacre TA. Prediction of BRCA1 germline mutation status in women with ovarian cancer using morphology-based criteria: identification of a BRCA1 ovarian cancer phenotype. Am J Surg Pathol. 2012;36:1170-7
54. Deb S, Jene N, Fox SB. Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas. BMC Cancer. 2012;12:510
55. Ottini L, Silvestri V, Rizzolo P, Falchetti M, Zanna I, Saieva C, et al. Clinical and pathologic characteristics of BRCA-positive and BRCA-negative male breast cancer patients: results from a collaborative multicenter study in Italy. Breast Cancer Res Treat. 2012;134:411-8
56. Lee AJ, Cunningham AP, Kuchenbaecker KB, Mavaddat N, Easton DF, Antoniou AC. Consortium of Investigators of Modifiers of B, Breast Cancer Association C. BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface. Br J Cancer. 2014;110:535-45