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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 | 971 | 2013 |
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 Genet 9 (3), e1003212, 2013 | 342 | 2013 |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer. J Tyrer, HC Shen, K Lawrenson, JM Lee, TJ Spindler, YG Lin, T Pejovic, ... Nature Genetics 47 (2), 2015 | 323 | 2015 |
RAD51 135G→ C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies AC Antoniou, OM Sinilnikova, J Simard, M Léoné, M Dumont, ... The American Journal of Human Genetics 81 (6), 1186-1200, 2007 | 309 | 2007 |
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction AC Antoniou, J Beesley, L McGuffog, OM Sinilnikova, S Healey, ... Cancer research 70 (23), 9742-9754, 2010 | 260 | 2010 |
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism V Pingault, M Girard, N Bondurand, H Dorkins, L Van Maldergem, ... Human genetics 111 (2), 198-206, 2002 | 214 | 2002 |
Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial R Manchanda, K Loggenberg, S Sanderson, M Burnell, J Wardle, ... JNCI: Journal of the National Cancer Institute 107 (1), 2015 | 202 | 2015 |
Cost-effectiveness of population screening for BRCA mutations in Ashkenazi Jewish women compared with family history–based testing R Manchanda, R Legood, M Burnell, A McGuire, M Raikou, K Loggenberg, ... Journal of the National Cancer Institute 107 (1), dju380, 2015 | 195 | 2015 |
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation PS Tarpey, C Stevens, J Teague, S Edkins, S O’Meara, T Avis, ... The American Journal of Human Genetics 79 (6), 1119-1124, 2006 | 144 | 2006 |
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of … AM Mulligan, FJ Couch, D Barrowdale, SM Domchek, D Eccles, ... Breast Cancer Research 13 (6), R110, 2011 | 142 | 2011 |
Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study AV Mitra, EK Bancroft, Y Barbachano, EC Page, CS Foster, C Jameson, ... BJU international 107 (1), 28-39, 2011 | 134 | 2011 |
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2mutation carriers AC Antoniou, KB Kuchenbaecker, P Soucy, J Beesley, X Chen, ... Breast Cancer Research 14 (1), R33, 2012 | 120 | 2012 |
The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine HC Whitaker, Z Kote-Jarai, H Ross-Adams, AY Warren, J Burge, A George, ... PloS one 5 (10), e13363, 2010 | 97 | 2010 |
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers I Blanco, K Kuchenbaecker, D Cuadras, X Wang, D Barrowdale, ... PloS one 10 (4), e0120020, 2015 | 79 | 2015 |
Modification of BRCA1-associated breast and ovarian cancer risk by BRCA1-interacting genes TR Rebbeck, N Mitra, SM Domchek, F Wan, TM Friebel, TV Tran, ... Cancer research 71 (17), 5792-5805, 2011 | 70 | 2011 |
Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term outcomes R Manchanda, M Burnell, F Gaba, R Desai, J Wardle, S Gessler, L Side, ... BJOG: An International Journal of Obstetrics & Gynaecology 127 (3), 364-375, 2020 | 67 | 2020 |
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers DG Cox, J Simard, D Sinnett, Y Hamdi, P Soucy, M Ouimet, L Barjhoux, ... Human molecular genetics 20 (23), 4732-4747, 2011 | 66 | 2011 |
Segregation analysis of a marker localised Xp21. 2-Xp21. 3 in Duchenne and Becker muscular dystrophy families H Dorkins, C Iunien, JL Mandel, K Wrogemann, JP Moison, M Martinez, ... Human genetics 71 (2), 103-107, 1985 | 59 | 1985 |
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations R Manchanda, M Burnell, K Loggenberg, R Desai, J Wardle, ... Journal of medical genetics 53 (7), 472-480, 2016 | 56 | 2016 |