Work

A Phylogenetic Approach to Analyze the Conservativeness of BRCA1 and BRCA2 Mutations.

Year: 2020

Type: article

Abstract: . ClinVar is used to identify human pathogenic mutations in BRCA1 and BRCA2. Statistical tests suggest that compared to the non-pathogenic mutations, human pathogenic mutations were more likely to locate at the evolutionary conserved positions. The approach presented in this study shows promise in identifying pathogenic mutations in humans, suggesting that the methodology may be applied to other disease-related genes to identify putative pathogenic mutations.

Source: PubMed Central

Authors: Jiaying Lai, Indra Neil Sarkar

Institution: Brown University

Language: English

Topic: BRCA gene mutations in cancer

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funder: National Institute of General Medical Sciences

Award: Advance Clinical and Translational Research (Advance-CTR)