Scientific article
Open access

A new bioinformatics tool to help assess the significance of BRCA1 variants

Published inHuman Genomics, vol. 12, no. 1, 36
Publication date2018

Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obviously, not all variants confer the same risk of developing a disease. In cancer patients, loss of BRCA1 function in tumor tissue has been associated with an increased sensitivity to platinum agents and to poly-(ADP-ribose) polymerase (PARP) inhibitors. For clinical management of both at-risk individuals and cancer patients, it would be important that each identified genetic variant be associated with clinical significance. Unfortunately for the vast majority of variants, the clinical impact is unknown. The availability of results from studies assessing the impact of variants on protein function may provide insight of crucial importance.

Research group
Citation (ISO format)
CUSIN, Isabelle et al. A new bioinformatics tool to help assess the significance of BRCA1 variants. In: Human Genomics, 2018, vol. 12, n° 1, p. 36. doi: 10.1186/s40246-018-0168-0
Main files (1)
Article (Published version)
ISSN of the journal1473-9542

Technical informations

Creation08/29/2018 11:23:00 PM
First validation08/29/2018 11:23:00 PM
Update time03/15/2023 8:42:42 AM
Status update03/15/2023 8:42:41 AM
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