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. 2024 Nov 15;24(1):4.
doi: 10.1007/s10689-024-00429-5.

BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants

Aastha Vatsyayan  1   2 , R I Anu  3 , Prerika Mathur  4 , Divya Uchil  5 , Ashish Joshi  5 , Aradhana Dwivedi  6 , Bhawna Sirohi  7 , Aju Mathew  8 , Dileep Damodaran  9 , Soumya Surath Panda  10 , Spoorthy Kolluri  10 , Shaji K Ayillath  11 , Deepak Amalnath  12 , Gomathi Shankar  12 , Kavita Pandhare  1   2 , Vinod Scaria  13   14   15   16   17
Affiliations

BRCAIndica: a resource for ACMG/AMP classified BRCA1 and BRCA2 variants

Aastha Vatsyayan et al. Fam Cancer. .

Abstract

As genetic testing becomes increasingly accessible and affordable, the uniform and accurate interpretation of genetic variants becomes essential. The ACMG/AMP joint guidelines provide the basis for systematic and uniform interpretation of pathogenicity of genetic variants. However, the application of these in routine clinical interpretation at-scale has largely been limited by the lack of resources providing harmonized data especially at a population-scale. Here we describe BRCAIndica, a resource for BRCA1 and BRCA2 variants conforming to the ACMG & AMP joint guidelines to aid uniform clinical interpretation of genetic tests with a specific focus on variants reported in the Indian population. We collected and harmonized variants from across several resources including population-scale datasets, literature survey and other variant datasets. We then classified them according to the ACMG/AMP guidelines.We have collected a total of 10,490 unique variants, of which 2261 Pathogenic and 43 Likely Pathogenic variants belong to BRCA1 and 2694 Pathogenic and 20 Likely Pathogenic variants to BRCA2 respectively. BRCAIndica can be accessed at:https://clingen.igib.res.in/brcaindica/ . In conclusion, BRCAIndica is a powerful resource that offers researchers and clinicians with ACMG/AMP annotated BRCA variants.

Keywords: ACMG; Cancer prevention; Database; Oncogenomics; Precision oncology.

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Conflict of interest statement

Declarations Ethics approval and consent Not applicable. Conflict of interest The authors declare that they have no conflicting interests to report. The funding body had no role in the study design, collection, analysis, or interpretation of data.

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