Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Segregation analysis of the BRCA2 c.9227G>T variant in multiple families suggests a pathogenic role in breast and ovarian cancer predisposition
Authors
Keywords
-
Journal
Scientific Reports
Volume 10, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-08-19
DOI
10.1038/s41598-020-70729-0
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Manage wisely: poly (ADP-ribose) polymerase inhibitor (PARPi) treatment and adverse events
- (2020) Ainhoa Madariaga et al. INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
- Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches
- (2018) Lucia Guidugli et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A comparison of cosegregation analysis methods for the clinical setting
- (2017) John Michael O. Rañola et al. Familial Cancer
- Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
- (2017) Karoline B. Kuchenbaecker et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
- (2016) Maxime P. Vallée et al. HUMAN MUTATION
- Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas
- (2016) Pedro Pinto et al. PLoS One
- BRCA1andBRCA2genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance
- (2015) D. M. Eccles et al. ANNALS OF ONCOLOGY
- 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
- Association of Type and Location ofBRCA1andBRCA2Mutations With Risk of Breast and Ovarian Cancer
- (2015) Timothy R. Rebbeck et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface
- (2013) A J Lee et al. BRITISH JOURNAL OF CANCER
- A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
- (2013) J.M. Eggington et al. CLINICAL GENETICS
- A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity
- (2012) L. Guidugli et al. CANCER RESEARCH
- A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
- (2011) Noralane M. Lindor et al. HUMAN MUTATION
- A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
- (2009) Leila Mohammadi et al. BMC CANCER
- Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications
- (2008) Sean V. Tavtigian et al. HUMAN MUTATION
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk 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