Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ... Jama 317 (23), 2402-2416, 2017 | 2767 | 2017 |
Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non … KA Gelmon, M Tischkowitz, H Mackay, K Swenerton, A Robidoux, ... The lancet oncology 12 (9), 852-861, 2011 | 1337 | 2011 |
Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE N Mavaddat, S Peock, D Frost, S Ellis, R Platte, E Fineberg, DG Evans, ... JNCI: Journal of the National Cancer Institute 105 (11), 812-822, 2013 | 1084 | 2013 |
Breast-Cancer Risk in Families with Mutations in PALB2 AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkäs, J Roberts, ... New England Journal of Medicine 371 (6), 497-506, 2014 | 1079 | 2014 |
Gene-panel sequencing and the prediction of breast-cancer risk DF Easton, PDP Pharoah, AC Antoniou, M Tischkowitz, SV Tavtigian, ... New England Journal of Medicine 372 (23), 2243-2257, 2015 | 1019 | 2015 |
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer E Castro, C Goh, D Olmos, E Saunders, D Leongamornlert, ... Journal of Clinical Oncology 31 (14), 1748, 2013 | 898 | 2013 |
Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 892 | 2017 |
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer S Reid, D Schindler, H Hanenberg, K Barker, S Hanks, R Kalb, ... Nature genetics 39 (2), 162-164, 2007 | 725 | 2007 |
Disruption of the Fanconi anemia–BRCA pathway in cisplatin-sensitive ovarian tumors T Taniguchi, M Tischkowitz, N Ameziane, SV Hodgson, CG Mathew, ... Nature medicine 9 (5), 568-574, 2003 | 715 | 2003 |
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers RS van der Post, IP Vogelaar, F Carneiro, P Guilford, D Huntsman, ... Journal of medical genetics 52 (6), 361-374, 2015 | 641 | 2015 |
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors A Lee, N Mavaddat, AN Wilcox, AP Cunningham, T Carver, S Hartley, ... Genetics in medicine 21 (8), 1708-1718, 2019 | 589 | 2019 |
Use of immunohistochemical markers can refine prognosis in triple negative breast cancer M Tischkowitz, JS Brunet, LR Bégin, DG Huntsman, MCU Cheang, ... BMC cancer 7, 1-11, 2007 | 564 | 2007 |
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ... Jama 313 (13), 1347-1361, 2015 | 555 | 2015 |
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer P Kaurah, A MacMillan, N Boyd, J Senz, A De Luca, N Chun, G Suriano, ... Jama 297 (21), 2360-2372, 2007 | 527 | 2007 |
Hereditary breast cancer: new genetic developments, new therapeutic avenues PM Campeau, WD Foulkes, MD Tischkowitz Human genetics 124, 31-42, 2008 | 501 | 2008 |
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type L Witkowski, J Carrot-Zhang, S Albrecht, S Fahiminiya, N Hamel, ... Nature genetics 46 (5), 438-443, 2014 | 462 | 2014 |
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ... The American Journal of Human Genetics 100 (1), 75-90, 2017 | 422 | 2017 |
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer CM Phelan, KB Kuchenbaecker, JP Tyrer, SP Kar, K Lawrenson, ... Nature genetics 49 (5), 680-691, 2017 | 412 | 2017 |
Fanconi anaemia MD Tischkowitz, SV Hodgson Journal of medical genetics 40 (1), 1-10, 2003 | 406 | 2003 |
Effect of BRCA mutations on metastatic relapse and cause-specific survival after radical treatment for localised prostate cancer E Castro, C Goh, D Leongamornlert, E Saunders, M Tymrakiewicz, ... European urology 68 (2), 186-193, 2015 | 373 | 2015 |