Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Multi-gene panel testing increases germline predisposing mutations’ detection in a cohort of breast/ovarian cancer patients from Southern Italy
Authors
Keywords
-
Journal
Frontiers in Medicine
Volume 9, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2022-08-11
DOI
10.3389/fmed.2022.894358
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- A Population-Based Study of Genes Previously Implicated in Breast Cancer
- (2021) Chunling Hu et al. NEW ENGLAND JOURNAL OF MEDICINE
- Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women
- (2021) et al. NEW ENGLAND JOURNAL OF MEDICINE
- Germline Pathogenic Variants in the Ataxia Telangiectasia Mutated (ATM) Gene are Associated with High and Moderate Risks for Multiple Cancers
- (2021) Michael J. Hall et al. Cancer Prevention Research
- Structure of the mammalian adenine DNA glycosylase MUTYH: insights into the base excision repair pathway and cancer
- (2021) Teruya Nakamura et al. NUCLEIC ACIDS RESEARCH
- Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina
- (2021) Angela R. Solano et al. Cancers
- Prevalence and Clinicopathological Characteristics of Moderate and High-Penetrance Genes in Non-BRCA1/2 Breast Cancer High-Risk Spanish Families
- (2021) Maria Fonfria et al. Journal of Personalized Medicine
- Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population
- (2020) Simone da Costa e Silva Carvalho et al. BMC Medical Genomics
- Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test
- (2020) Hee-Chul Shin et al. Cancer Research and Treatment
- NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020
- (2020) Mary B. Daly et al. Journal of the National Comprehensive Cancer Network
- Yield and clinical significance of genetic screening in elite and amateur athletes
- (2020) Giuseppe Limongelli et al. European Journal of Preventive Cardiology
- Prevalence and characterization of ATM germline mutations in Chinese BRCA1/2-negative breast cancer patients
- (2019) Ziguo Yang et al. BREAST CANCER RESEARCH AND TREATMENT
- Current Prevalence of Major Cancer Risk Factors and Screening Test Use in the United States: Disparities by Education and Race/Ethnicity
- (2019) Ann Goding Sauer et al. CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
- BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance Variants
- (2019) Paola Concolino et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- The role of BRCA1/2 in hereditary and familial breast and ovarian cancers
- (2019) Yousef M. Hawsawi et al. Molecular Genetics & Genomic Medicine
- Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
- (2018) Tú Nguyen-Dumont et al. BMC CANCER
- Germline breast cancer susceptibility gene mutations and breast cancer outcomes
- (2018) Yong Alison Wang et al. BMC CANCER
- Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer
- (2018) Florentia Fostira et al. BREAST CANCER RESEARCH AND TREATMENT
- A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study
- (2018) Marcella Nunziato et al. ANALYTICA CHIMICA ACTA
- VarSome: the human genomic variant search engine
- (2018) Christos Kopanos et al. BIOINFORMATICS
- Underdiagnosis of Hereditary Breast Cancer: Are Genetic Testing Guidelines a Tool or an Obstacle?
- (2018) Peter D. Beitsch et al. JOURNAL OF CLINICAL ONCOLOGY
- Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy
- (2018) Piera Rizzolo et al. Frontiers in Oncology
- A multi-gene panel study in hereditary breast and ovarian cancer in Colombia
- (2017) A. M. Cock-Rada et al. Familial Cancer
- Optimized detection of insertions/deletions (INDELs) in whole-exome sequencing data
- (2017) Bo-Young Kim et al. PLoS One
- New challenges for BRCA testing: a view from the diagnostic laboratory
- (2016) Andrew J Wallace EUROPEAN JOURNAL OF HUMAN GENETICS
- Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH
- (2016) Aung Ko Win et al. INTERNATIONAL JOURNAL OF CANCER
- The Spectrum of Genetic Mutations in Breast Cancer
- (2015) Asfandyar Sheikh et al. Asian Pacific Journal of Cancer Prevention
- Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
- (2015) Thaddeus Judkins et al. BMC CANCER
- The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
- (2015) Valeria D'Argenio et al. CLINICA CHIMICA ACTA
- Clinical impact on ovarian cancer patients of massive parallel sequencing forBRCAmutation detection: the experience at Gemelli hospital and a literature review
- (2015) Angelo Minucci et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- (2015) Lisa R. Susswein et al. GENETICS IN MEDICINE
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
- (2015) Stephen E. Lincoln et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment
- (2015) Andrea Desmond et al. JAMA Oncology
- DANN: a deep learning approach for annotating the pathogenicity of genetic variants
- (2014) Daniel Quang et al. BIOINFORMATICS
- Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel
- (2014) Nadine Tung et al. CANCER
- MUTYH gene variants and breast cancer in a Dutch case–control study
- (2012) Astrid A. Out et al. BREAST CANCER RESEARCH AND TREATMENT
- MutYH mutation carriers have increased breast cancer risk
- (2011) Gad Rennert et al. CANCER
- Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
- (2010) Marijke Wasielewski et al. BREAST CANCER RESEARCH AND TREATMENT
- A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
- (2010) E Theodoratou et al. BRITISH JOURNAL OF CANCER
- PALB2/FANCN: Recombining Cancer and Fanconi Anemia
- (2010) M. Tischkowitz et al. CANCER RESEARCH
- PALB2 Regulates Recombinational Repair through Chromatin Association and Oligomerization
- (2009) Shirley M.-H. Sy et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Mutations of the MYH gene do not substantially contribute to the risk of breast cancer
- (2008) Mario E. Beiner et al. BREAST CANCER RESEARCH AND TREATMENT
- Germline Mutation in RNASEL Predicts Increased Risk of Head and Neck, Uterine Cervix and Breast Cancer
- (2008) Bo Eskerod Madsen et al. PLoS One
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started