A dominant RAD51C pathogenic splicing variant predisposes to breast and ovarian cancer in the Newfoundland population due to founder effect
Author:
Affiliation:
1. Faculty of Medicine Memorial University of Newfoundland St. John’s NL Canada
2. Eastern Health Authority St. John’s NL Canada
3. Centre for Translational Genomics St. John’s NL Canada
Funder
Atlantic Canada Opportunities Agency
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1070
Reference51 articles.
1. Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL
2. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families
3. Guidance Statement On BRCA1/2 Tumor Testing in Ovarian Cancer Patients
4. Rad51 Paralog Complexes BCDX2 and CX3 Act at Different Stages in the BRCA1-BRCA2-Dependent Homologous Recombination Pathway
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1. Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site;DNA Repair;2024-03
2. Specialty Care and Counselling about Hereditary Cancer Risk Improves Adherence to Cancer Screening and Prevention in Newfoundland and Labrador Patients with BRCA1/2 Pathogenic Variants: A Population-Based Retrospective Cohort Study;Current Oncology;2023-10-22
3. Impact of Breast Cancer Screening on 10-Year Net Survival in Canadian Women Age 40-49 Years;Journal of Clinical Oncology;2023-10-10
4. Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond;DNA Repair;2023-10
5. Dysregulation of splicing variants and spliceosome components in breast cancer;Endocrine-Related Cancer;2022-09-01
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