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List of works by Valeria Pensotti

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Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article
Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

scientific article
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011
Atypical Epithelial Proliferation in Fallopian Tubes in Prophylactic Salpingo-oophorectomy Specimens from BRCA1 and BRCA2 Germline Mutation Carriers

scientific article published in January 2004
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015
Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families

scientific article published on 16 January 2007
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article
Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation

article
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

scientific article
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

scientific article published on 25 April 2015
The p53 Arg72Pro and Ins16bp polymorphisms and their haplotypes are not associated with breast cancer risk in BRCA-mutation negative familial cases

scientific article published on 21 July 2008
Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: results from a multicenter study in Italy

scientific article published on 3 August 2015
Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics

scientific article published on 7 April 2010
Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

scientific article
Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article
No evidence for an association between the earwax-associated polymorphism in ABCC11 and breast cancer risk in Caucasian women

scientific article published on 17 December 2010
X chromosome inactivation pattern in BRCA gene mutation carriers

scientific article published on 9 November 2012
Estimate of the penetrance of BRCA mutation and the COS software for the assessment of BRCA mutation probability.

scientific article published in March 2015
A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project

scientific article
Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma

scientific article published on 03 September 2020
OncoPan<sup>®</sup>: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma

scientific article published on 23 May 2022
HPV nonrelated endocervical adenocarcinoma in hereditary cancer syndromes

scientific article published on 08 July 2020

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