Valeria Pensotti
A5027643392- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- Ovarian cancer diagnosis and treatment
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Nutrition, Genetics, and Disease
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- Colorectal Cancer Screening and Detection
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Male Breast Health Studies
- Neuroendocrine Tumor Research Advances
- Colorectal Cancer Treatments and Studies
- Cancer-related Molecular Pathways
- Molecular Biology Techniques and Applications
- Genomics and Chromatin Dynamics
- Signaling Pathways in Disease
- Cancer and Skin Lesions
- Cellular transport and secretion
- Lipid Membrane Structure and Behavior
- Nuclear Structure and Function
- Colorectal and Anal Carcinomas
- PARP inhibition in cancer therapy
- Gestational Trophoblastic Disease Studies
Cogent (United Kingdom)
2009-2023
IFOM
2007-2019
Istituto Nazionale Genetica Molecolare
2015
City of Hope
2015
Cancer Genetics (United States)
2015
Research Network (United States)
2015
Genomics (United Kingdom)
2010
Genomic Health (United States)
2009
Fondazione IRCCS Istituto Nazionale dei Tumori
1995-2007
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
Although growing numbers of tubal carcinomas in carriers BRCA1 and BRCA2 germline mutations have been reported, very little is known about the nature frequency their possible precursor lesions. The aim this study to investigate occurrence atypical proliferative lesions grossly normal fallopian tubes from 26 women with who underwent prophylactic salpingo-oophorectomy whose ovaries were histologically negative for carcinoma. Fallopian 49 had undergone hysterectomy uterine leiomyoma served as...
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial remain unexplained. To determine whether some missing heritability is due to rare variants conferring high moderate risk, we tested for an association between c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 FANCM gene and cancer. An analysis genotyping data from 8635 cases 6625 controls different countries yielded [odds ratio (OR) = 3.93 (95%...
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study Europeans identified two further variants: rs11249433 1p11.2 rs999737 RAD51L1 14q24.1. Although previously variants shown be associated with risk BRCA1 BRCA2 mutation carriers, involvement of these SNPs carriers is currently unknown. To address this, we genotyped from 42 studies...
Abstract Introduction We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with reduction in premenopausal urinary estrone glucuronide levels and modest risk of breast cancer women age ≤50 years. Methods further investigated association rs10235235 large case control study 47,346 cases 47,570 controls from 52 studies participating Breast Cancer Association Consortium. Genotyping conducted using custom Illumina...
We recently identified a novel susceptibility variant, rs865686, for estrogen-receptor positive breast cancer at 9q31.2. Here, we report fine-mapping analysis of the 9q31.2 locus using 43 160 cases and 42 600 controls European ancestry ascertained from 52 studies further 5795 6624 Asian nine studies. Single nucleotide polymorphism (SNP) rs676256 was most strongly associated with risk in Europeans (odds ratios [OR] = 0.90 [0.88–0.92]; P-value 1.58 × 10−25). This SNP is one cluster highly...
Abstract Approximately half of high-grade ovarian cancers are characterized by genetic and epigenetic alterations genes involved in homologous recombination (HRR), most commonly BRCA1 BRCA2. HRR defects identified tests genomic instability confer PARP-inhibitors sensitivity cancers. Commercial that combine tumor BRCA testing with a score (HRD test) available clinical practice. We seek to determine the performance three different HRD improve therapy management prevention cancer. Tumor samples...
Abstract Introduction Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. are involved DNA double-strand break repair, alterations that can be caused by exposure to reactive oxygen species, main source which mitochondria. Mitochondrial genome variations affect electron transport chain efficiency species production. with different mitochondrial haplogroups differ their metabolism sensitivity oxidative stress. Variability genetic...
Fourteen Italian families affected with hereditary nonpolyposis colorectal cancer (HNPCC) were screened for germline mutations at three DNA mismatch repair (MMR) genes, MSH2, MLHI, and GTBP, by using a combination of different methods that included an in vitro synthesized protein assay, single-strand conformation polymorphism analysis, direct sequencing. alterations observed six instances, including single base deletion MSH2 exon 14, A-to-G transition the splice donor site MLHI 6, two...
Germline inactivation of the E‐cadherin gene ( CDH1 ) is associated with hereditary diffuse gastric cancer (HDGC), a rare autosomal dominant syndrome predisposing to both (DGC) and lobular breast (LBC). We searched for germline defects in 32 HDGC Italian probands selected according international consensus criteria 5 relatives. used series molecular methods, including: DNA sequencing, multiplex ligation‐dependent probe amplification, single‐nucleotide primer extension, bisulfite...
The identification of founder mutations in cancer predisposing genes is important to improve risk assessment geographically defined populations, since it may provide specific targets resulting cost-effective genetic testing. Here, we report the characterization BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped RING-finger domain coding region, that detected 43 hereditary breast/ovarian (HBOC) families, for large part originating from province Bergamo (Northern Italy). Haplotype analysis was...
Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited syndrome linked to DNA-mismatch-repair (MMR) gene defects, which also account for microsatellite instability (MSI) in tumour tissues. Diagnosis based mainly on family history, according widely accepted criteria (Amsterdam Criteria: AC). Aim of this work was assess MSI colorectal-cancer patients with suspected genetic predisposition, and verify whether represents tool manage MMR (hMSH2 hMLH1) mutation analysis. We...
Lynch Syndrome is an autosomal dominant cancer predisposition syndrome caused by germline pathogenic variants or epimutation in one of the DNA mismatch repair genes. De novo genes have been described as a rare event (1-5%), although prevalence de probably underestimated. The variant was identified 26-year-old woman diagnosed with adenocarcinoma caecum protein deficiency at immunohistochemistry and synchronous neuroendocrine tumor appendix normal expression proteins. testing revealed deletion...