Daniela Zaffaroni
A5060834175- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genetics, Bioinformatics, and Biomedical Research
- CRISPR and Genetic Engineering
- DNA Repair Mechanisms
- Ubiquitin and proteasome pathways
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Molecular Biology Techniques and Applications
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genomics and Chromatin Dynamics
- Protein Tyrosine Phosphatases
- Protease and Inhibitor Mechanisms
- Circular RNAs in diseases
- Genetic factors in colorectal cancer
- Ovarian cancer diagnosis and treatment
- RNA Research and Splicing
- Genetic Mapping and Diversity in Plants and Animals
- MicroRNA in disease regulation
- Telomeres, Telomerase, and Senescence
- Genetics, Aging, and Longevity in Model Organisms
- PI3K/AKT/mTOR signaling in cancer
- Salivary Gland Tumors Diagnosis and Treatment
- Viral Infectious Diseases and Gene Expression in Insects
Fondazione IRCCS Istituto Nazionale dei Tumori
2003-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2011-2015
American Cancer Society
2012
Cancer Genetics (United States)
2012
Mayo Clinic in Florida
2012
University of Southern California
2012
Georgetown University
2010
Centre Léon Bérard
2010
City Of Hope National Medical Center
2010
QIMR Berghofer Medical Research Institute
2010
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
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...
Recently, the SNPs rs11614913 in hsa-mir-196a2 and rs3746444 hsa-mir-499 were reported to be associated with increased breast cancer risk, SNP rs2910164 hsa-mir-146a was shown have an effect on age of diagnosis. In order further investigate these SNPs, we genotyped a total 1894 cases negative for disease-causing mutations or unclassified variants BRCA1 BRCA2, 2760 controls from Germany Italy. We compared genotype allele frequencies rs2910164, versus German Italian series, two series...
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...
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...
Germline mutations in the BRCA1 and BRCA2 genes are associated with increased risks of breast ovarian cancers. Although several common variants have been cancer susceptibility mutation carriers, none susceptibility. A genome-wide association study recently identified an between rare allele single-nucleotide polymorphism (SNP) rs3814113 (ie, C allele) at 9p22.2 decreased risk for women general population. We evaluated this SNP among or carriers by use data from Consortium Investigators...
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...
Abstract Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on risk, we searched for novel components through protein physical interaction screens. Methods Protein interactions were screened using the yeast two-hybrid system. Co-affinity purifications endogenous co-immunoprecipitation assays performed to corroborate...
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...
BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast ovarian cancer. The incomplete penetrance coupled with the variable age diagnosis in of same suggests existence genetic nongenetic modifying factors. In this study, we evaluated putative role variants many candidate modifier genes.
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...
Single-nucleotide polymorphisms (SNPs) in genes involved DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations the high-risk susceptibility BRCA1 and BRCA2. The base excision (BER) pathway could particularly interesting given relation synthetic lethality that exists between one components pathway, PARP1, both In this study, we have evaluated XRCC1 gene participates BER modifier Three common SNPs gene, c.-77C>T (rs3213245) p.Arg280His (rs25489)...
Abstract The Car‐R outbred mouse line was phenotypically selected for high resistance to two‐stage skin tumorigenesis. In the present study we tested hypothesis that a subset of genetic loci responsible tumorigenesis mice might also inhibit lung Skin and were induced in groups Car‐R, SWR/J, (SWR/JxCar‐R)F1 SWR/Jx(SWR/JxCar‐R) backcross by i.p. urethane initiation TPA promotion. showed much lower susceptibility both as compared SWR/J mice, which are susceptible Car‐R‐inherited genome...