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

AB Spurdle; FJ Couch; MT Parsons; L McGuffog; D Barrowdale; MK Bolla; Q Wang; S Healey; R Schmutzler; B Wappenschmidt; K Rhiem; E Hahnen; C Engel; A Meindl; N Ditsch; N Arnold; H Plendl; D Niederacher; C Sutter; S Wang-Gohrke; D Steinemann; S Preisler-Adams; K Kast; R Varon-Mateeva; S Ellis; D Frost; R Platte; J Perkins; DG Evans; L Izatt; R Eeles; J Adlard; R Davidson; T Cole; G Scuvera; S Manoukian; B Bonanni; F Mariette; S Fortuzzi; A Viel; B Pasini; L Papi; L Varesco; R Balleine; KL Nathanson; SM Domchek; K Offitt; A Jakubowska; N Lindor; M Thomassen; UBI Jensen; J Rantala; Å Borg; IL Andrulis; A Miron; TVO Hansen; T Caldes; SL Neuhausen; AE Toland; H Nevanlinna; M Montagna; J Garber; AK Godwin; A Osorio; RE Factor; MB Terry; TR Rebbeck; BY Karlan; M Southey; MUS Rashid; N Tung; PDP Pharoah; FM Blows; AM Dunning; E Provenzano; P Hall; K Czene; MK Schmidt; A Broeks; S Cornelissen; S Verhoef; PA Fasching; MW Beckmann; AB Ekici; DJ Slamon; SE Bojesen; BG Nordestgaard; SF Nielsen; H Flyger; J Chang-Claude; D Flesch-Janys; A Rudolph; P Seibold; K Aittomäki; TA Muranen; P Heikkilä; C Blomqvist; J Figueroa; SJ Chanock; L Brinton

Journal article

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

AB Spurdle, FJ Couch, MT Parsons, L McGuffog, D Barrowdale, MK Bolla, Q Wang, S Healey, R Schmutzler, B Wappenschmidt, K Rhiem, E Hahnen, C Engel, A Meindl, N Ditsch, N Arnold, H Plendl, D Niederacher, C Sutter, S Wang-Gohrke Show all

Breast cancer research : BCR | Published : 2014

DOI: 10.1186/s13058-014-0474-y

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Abstract

INTRODUCTION: The distribution of histopathological features of invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that of individuals with no known mutation. Histopathological features thus have utility for mutation prediction, including statistical modeling to assess pathogenicity of BRCA1 or BRCA2 variants of uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) and the Breast Cancer Association Consortium (BCAC) to reassess histopathological predictors of BRCA1 and BRCA2 mutation status, and provide robust likelihood ratio (LR) estimates for statistical modeling.METHOD..

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University of Melbourne Researchers

Melissa Southey Author

Graham Giles Author

Catriona McLean Author

Roger Milne Author

Related Projects (1)

THE KATHLEEN CUNNINGHAM FOUNDATION CONSORTIUM FOR RESEARCH INTO FAMILIAL BREAST CANCER

Grants

Awarded by Sundhed og Sygdom, Det Frie Forskningsråd

Funding Acknowledgements

Amanda Spurdle is supported by an NHMRC Senior Research Fellowship, and aspects of this research were funded by Australian NHMRC Project grant ID 1010719. This work was supported in part by NIH grants CA128978 and CA116167, an NIH specialized program of research excellence in breast cancer to the Mayo Clinic (P50 CA116201), and the Breast Cancer Research Foundation. CIMBA data management was supported by Cancer Research-UK grant C12292/A11174 and C1287/A10118. ACA is a Cancer Research-UK Senior Cancer Research Fellow. BCAC data management was funded by Cancer Research UK (C1287/A10118 and C1287/A12014) and by the European Communitys Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175).