Affiliation: University of Padova
- Identification of BRCA1 and BRCA2 carriers by allele-specific gene expression (AGE) analysisMarco Montagna
Department of Oncology and Surgical Sciences, Oncology Section, University of Padova, Padova, Italy
Int J Cancer 98:732-6. 2002..Notably, other hereditary diseases whose genetic analysis is hampered by similar problems could benefit from this kind of approach...
- Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriersAntonis C Antoniou
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
Breast Cancer Res 14:R33. 2012..2)...
- Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
- Toll-like receptor 9 polymorphisms influence mother-to-child transmission of human immunodeficiency virus type 1Elisabetta Ricci
Department of Oncology and Surgical Sciences, Oncology Section, AIDS Reference Center, University of Padova, Via Gattamelata 64, 35128 Padova, Italy
J Transl Med 8:49. 2010..The aim of this study was to investigate the influence of genetic variants of TLR 9 gene on MTCT...
- Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer familiesMarco Montagna
IST Genova c o, Azienda Ospedaliera, Padua, Italy
Hum Mol Genet 12:1055-61. 2003..We therefore propose to systematically include MLPA in the BRCA1 mutational analysis of breast/ovarian cancer families...
- Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutationsSimona Agata
Department of Oncology and Surgical Sciences, Oncology Section, University of Padua, Padua, Italy
Genes Chromosomes Cancer 45:791-7. 2006..11 < 0.19 < 0.28) of the BRCA1 mutation positive families. We conclude that the search for major genomic rearrangements is essential for an accurate and comprehensive BRCA1 mutation detection strategy in Italy...
- BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast ItalySandro Malacrida
Department of Oncology and Surgical Sciences, Oncology Section, IRCCS, Padua, Italy
J Clin Oncol 26:26-31. 2008..Herein, we investigate the pathogenicity of the BRCA1 p.Val1688del (c.5181_5183delGTT) variant, which recurs in our population...
- Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 -/- epithelial ovarian cancersStefano Indraccolo
Istituto Oncologico Veneto, Padova, Italy
Eur J Cancer 42:1475-83. 2006..The PD-OVCA1 and PD-OVCA2 ovarian cancer cell lines will provide a valuable tool for new experimental models for the study of BRCA1-associated tumour biology...
- Functional impairment of p16(INK4A) due to CDKN2A p.Gly23Asp missense mutationMaria Chiara Scaini
Section of Oncology, Department of Oncology and Surgical Sciences, University of Padova, Via Gattamelata, 64, I 35128 Padova, Italy
Mutat Res 671:26-32. 2009....
- Differential sensitivity of BRCA1-mutated HCC1937 human breast cancer cells to microtubule-interfering agentsPierfrancesco Tassone
Oncology Division, Department of Experimental and Clinical Medicine, Magna Graecia University, Catanzaro, Italy
Int J Oncol 26:1257-63. 2005....
- Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutationsFabio Marroni
Department of Oncology, Transplants and New Technologies in Medicine, Section of Pathology, University of Pisa, Pisa, Italy
Eur J Hum Genet 12:899-906. 2004..Our approach could lead to country-customized versions of the BRCAPRO software by providing appropriate population-specific estimates...
- Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutationPaolo Aretini
Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, Pisa, Italy
Breast Cancer Res Treat 81:71-9. 2003..Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2...
- Association between MDM2-SNP309 and age at colorectal cancer diagnosis according to p53 mutation statusChiara Menin
IST Genova, Azienda Ospedaliera di Padova and Istituto Oncologico Veneto, Padova, Italy
J Natl Cancer Inst 98:285-8. 2006..0 years, 95% confidence interval = 1.0 to 16.0 years; P = .03 [two-sided Wilcoxon rank sum test]). Our data indicate that MDM2-SNP309 is a modifier of the age at colorectal cancer onset for patients whose tumors have a wild-type p53 gene...
- The CHEK2 c.1100delC mutation plays an irrelevant role in breast cancer predisposition in ItalyMaria Adelaide Caligo
Hum Mutat 24:100-1. 2004