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
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
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
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
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
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
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
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
Journal of Clinical Oncology 31 (14), 1748, 2013
Prevalence and architecture of de novo mutations in developmental disorders
TDDD Study
Nature 542 (7642), 433, 2017
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), 1-11, 2007
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
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
Hereditary breast cancer: new genetic developments, new therapeutic avenues
PM Campeau, WD Foulkes, MD Tischkowitz
Human genetics 124 (1), 31-42, 2008
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
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
Fanconi anaemia
MD Tischkowitz, SV Hodgson
Journal of medical genetics 40 (1), 1-10, 2003
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
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
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
Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia
M Georgitsi, A Raitila, A Karhu, RB van der Luijt, CM Aalfs, T Sane, ...
The Journal of Clinical Endocrinology & Metabolism 92 (8), 3321-3325, 2007
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