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Marc Tischkowitz
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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
30662017
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
13662011
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
11442013
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
11292014
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
10592015
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9832017
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), 1748-1757, 2013
9462013
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
7452007
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
7182003
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
6592015
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
6502019
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
5912015
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
5682007
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
5422007
Hereditary breast cancer: new genetic developments, new therapeutic avenues
PM Campeau, WD Foulkes, MD Tischkowitz
Human genetics 124, 31-42, 2008
5072008
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
4862014
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
4552017
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
4502017
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
X Yang, G Leslie, A Doroszuk, S Schneider, J Allen, B Decker, ...
Journal of clinical oncology 38 (7), 674-685, 2020
4142020
Fanconi anaemia
MD Tischkowitz, SV Hodgson
Journal of medical genetics 40 (1), 1-10, 2003
4132003
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