Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies A Antoniou, PDP Pharoah, S Narod, HA Risch, JE Eyfjord, JL Hopper, ... The American Journal of Human Genetics 72 (5), 1117-1130, 2003 | 4722 | 2003 |
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma RMW Hofstra, RM Landsvater, I Ceccherini, RP Stulp, T Stelwagen, Y Luo, ... Nature 367 (6461), 375-376, 1994 | 1417 | 1994 |
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease G Romeo, P Ronchetto, Y Luo, V Barone, M Seri, I Ceccherini, B Pasini, ... Nature 367 (6461), 377-378, 1994 | 878 | 1994 |
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation A Finch, M Beiner, J Lubinski, HT Lynch, P Moller, B Rosen, J Murphy, ... Jama 296 (2), 185-192, 2006 | 795 | 2006 |
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) N Mavaddat, D Barrowdale, IL Andrulis, SM Domchek, D Eccles, ... Cancer Epidemiology, Biomarkers & Prevention 21 (1), 134-147, 2012 | 758 | 2012 |
Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study SA Narod, JS Brunet, P Ghadirian, M Robson, K Heimdal, SL Neuhausen, ... The Lancet 356 (9245), 1876-1881, 2000 | 662 | 2000 |
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 | 548 | 2015 |
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC … B Pasini, SR McWhinney, T Bei, L Matyakhina, S Stergiopoulos, ... European Journal of Human Genetics 16 (1), 79-88, 2008 | 532 | 2008 |
Recurrent Somatic DICER1 Mutations in Nonepithelial Ovarian Cancers A Heravi-Moussavi, MS Anglesio, SWG Cheng, J Senz, W Yang, ... New England Journal of Medicine 366 (3), 234-242, 2012 | 506 | 2012 |
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers SA Narod, MP Dubé, J Klijn, J Lubinski, HT Lynch, P Ghadirian, ... Journal of the National Cancer Institute 94 (23), 1773-1779, 2002 | 477 | 2002 |
Identification of six new susceptibility loci for invasive epithelial ovarian cancer KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ... Nature genetics 47 (2), 164-171, 2015 | 307 | 2015 |
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes B Pasini, CA Stratakis Journal of internal medicine 266 (1), 19-42, 2009 | 302 | 2009 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations TR Rebbeck, TM Friebel, E Friedman, U Hamann, D Huo, A Kwong, ... Human mutation 39 (5), 593-620, 2018 | 291 | 2018 |
Familial gastrointestinal stromal tumors and germ-line mutations SR McWhinney, B Pasini, CA Stratakis New England Journal of Medicine 357 (10), 1054-1056, 2007 | 246 | 2007 |
The full oncogenic activity of Ret/ptc2 depends on tyrosine 539, a docking site for phospholipase Cγ MG Borrello, L Alberti, E Arighi, I Bongarzone, C Battistini, A Bardelli, ... Molecular and cellular biology, 1996 | 236 | 1996 |
Does chromosome 17 centromere copy number predict polysomy in breast cancer? A fluorescence in situ hybridization and microarray‐based CGH analysis C Marchio, MB Lambros, P Gugliotta, LV Di Cantogno, C Botta, B Pasini, ... The Journal of Pathology: A Journal of the Pathological Society of Great …, 2009 | 226 | 2009 |
Loss of function effect of RET mutations causing Hirschsprung disease B Pasini, MG Borrello, A Greco, I Bongarzone, Y Luo, P Mondellini, ... Nature genetics 10 (1), 35-40, 1995 | 225 | 1995 |
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers CA Cullinane, J Lubinski, SL Neuhausen, P Ghadirian, HT Lynch, ... International journal of cancer 117 (6), 988-991, 2005 | 222 | 2005 |
RET mutations in human disease B Pasini, I Ceccherini, G Romeo Trends in genetics 12 (4), 138-144, 1996 | 220 | 1996 |
The Italian multi-center project on evaluation of MRI and other imaging modalities in early detection of breast cancer in subjects at high genetic risk F Podo, F Sardanelli, R Canese, G D'Agnolo, PG Natali, M Crecco, ... Journal of Experimental & Clinical Cancer Research 21, 115-124, 2002 | 208 | 2002 |