Alessandra Viel
A5114377445- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Colorectal Cancer Screening and Detection
- Colorectal Cancer Treatments and Studies
- CRISPR and Genetic Engineering
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Genetic Associations and Epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Male Breast Health Studies
- Ovarian cancer diagnosis and treatment
- Digestive system and related health
- Ubiquitin and proteasome pathways
- RNA modifications and cancer
- RNA Research and Splicing
- Multiple and Secondary Primary Cancers
- Circular RNAs in diseases
- PARP inhibition in cancer therapy
- Genomics and Chromatin Dynamics
- Folate and B Vitamins Research
- Protein Tyrosine Phosphatases
- Renal and related cancers
- Cholangiocarcinoma and Gallbladder Cancer Studies
Centro di Riferimento Oncologico
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2012-2023
Agence Nationale de Sécurité Sanitaire de l’Alimentation, de l’Environnement et du Travail
2023
Centre Hospitalier de Fougères
2023
Wellcome Sanger Institute
2017
Sapienza University of Rome
2017
National Cancer Institute
2009-2017
QIMR Berghofer Medical Research Institute
2010-2015
American Cancer Society
2012
Cancer Genetics (United States)
2012
8-Oxoguanine, a common mutagenic DNA lesion, generates G:C>T:A transversions via mispairing with adenine during replication. When operating normally, the MUTYH glycosylase prevents 8-oxoguanine-related mutagenesis by excising incorporated adenine. Biallelic mutations impair this enzymatic function and are associated colorectal cancer (CRC) in MUTYH-Associated Polyposis (MAP) syndrome. Here, we perform whole-exome sequencing that reveals modest mutator phenotype MAP CRCs compared to sporadic...
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...
Abstract The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of for BRCA1 or BRCA2 mutation carriers. We evaluated the associations 3 additional single nucleotide (SNPs), rs4973768 SLC4A7/NEK10, rs6504950 STXBP4/COX11, rs10941679 at 5p12, reanalyzed previous using carriers a sample 12,525 7,409 Additionally, we investigated potential interactions between SNPs assessed implications risk prediction. minor alleles were...
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify risks for female carriers mutations. We investigated—for first time to our knowledge—associations common with male BRCA1/ 2 implications prediction. Materials Methods genotyped 1,802 from Consortium Investigators Modifiers by using custom Illumina OncoArray. investigated combined effects established susceptibility on constructing weighted polygenic scores (PRSs) published effect...
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for mutation carriers, we undertook a two-staged genome-wide association study in carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<40 years) affected and 804 unaffected carriers European ancestry. Associations evaluated survival-based...
Single Nucleotide Polymorphisms (SNPs) in genes involved the DNA Base Excision Repair (BER) pathway could be associated with cancer risk carriers of mutations high-penetrance susceptibility BRCA1 and BRCA2, given relation synthetic lethality that exists between one components BER pathway, PARP1 (poly ADP ribose polymerase), both BRCA2. In present study, we have performed a comprehensive analysis 18 using tagging SNP approach large series BRCA2 mutation carriers. 144 SNPs were analyzed two...
Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these different subtypes in and carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods We used genotype data on up to 11,421 7,080 carriers, whom 4,310 had been affected information either ER PR tumour, assess associations 12 loci tumour...
Abstract Introduction The distribution of histopathological features invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that individuals with no known mutation. Histopathological thus have utility for prediction, including statistical modeling to assess pathogenicity variants uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium Investigators Modifiers /2 (CIMBA) and Breast Cancer Association (BCAC) reassess predictors...
Importance Young women with breast cancer who have germline pathogenic variants in BRCA1 or BRCA2 face unique challenges regarding fertility. Previous studies demonstrating the feasibility and safety of pregnancy survivors included limited data BRCA carriers. Objective To investigate cumulative incidence disease-free survival young are Design, Setting, Participants International, multicenter, hospital-based, retrospective cohort study conducted at 78 participating centers worldwide. The...
Abstract Biallelic germline mutations in the base excision repair gene MYH have been reported patients with multiple colorectal adenomas and cancer sporadic FAP not showing a detectable APC mutation. In this study, prevalence of common Y165C G382D variants was examined 70 FAP/AAPC no mutation family history compatible recessive inheritance. addition, 141 normal‐population adenoma (mean number adenomas, 2.8; range, 1–9) 52 clean colon controls were studied. The entire coding region analyzed...
Several genes have been involved in the pathogenesis of hereditary breast/ovarian cancer (BOC), but mutations BRCA1 gene are by far most recurrent. In this study, we report identification a founder mutation geographically and historically homogeneous population from Calabria, south Italian region. A screening performed on 24 patients unrelated families highlighted high prevalence 5083del19 alteration gene, which accounts for 33% overall mutations. The same was also detected 4 patients, all...
Genome-wide association studies of breast cancer have identified multiple single nucleotide polymorphisms (SNPs) that are associated with increased risks in the general population. In a previous study, we demonstrated minor alleles at three these SNPs, FGFR2, TNRC9 and MAP3K1, also confer for BRCA1 or BRCA2 mutation carriers. Three additional SNPs rs3817198 LSP1, rs13387042 2q35 rs13281615 8q24 since been reported to be population, this study evaluated their risk 9442 5665 carriers from 33...
An increasing body of evidence points to a possible role microRNAs (miRNAs) in hereditary cancer syndromes. To evaluate the miRNA allelic variants susceptibility familial breast and ovarian cancers BRCA1/BRCA2 -negative patients, we focused our attention on three miRNAs, miR-146a, miR-17 miR-369, based their affinity either BRCA1 or BRCA2 messenger RNA localization chromosome regions commonly deleted those tumors. The analysis was performed 101 Italian probands with ascertained familiarity...
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%...
PURPOSE: Germline mutations in mismatch repair genes predispose to hereditary nonpolyposis colorectal cancer (HNPCC). To address effective screening programs, the true incidence of disease must be known. Previous clinical investigations reported estimates ranging between 0.5% and 13% all (CRC) cases, whereas biomolecular studies Finland found an 2% 2.7% mutation carriers for disease. The aim present report is establish frequency a high-incidence area colon cancer. PATIENTS AND METHODS:...