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

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

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 o...

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Published in:Familial cancer Vol. 24; no. 1; p. 4
Main Authors: Vatsyayan, Aastha, Anu, R. I., Mathur, Prerika, Uchil, Divya, Joshi, Ashish, Dwivedi, Aradhana, Sirohi, Bhawna, Mathew, Aju, Damodaran, Dileep, Panda, Soumya Surath, Kolluri, Spoorthy, Ayillath, Shaji K., Amalnath, Deepak, Shankar, Gomathi, Pandhare, Kavita, Scaria, Vinod
Format: Journal Article
Language:English
Published: Dordrecht Springer Netherlands 2025
Springer Nature B.V
Subjects:
Biomedical and Life Sciences
Biomedicine
BRCA1 protein
BRCA2 protein
Brief Report
Cancer Research
Epidemiology
Genetic diversity
Genetic screening
Human Genetics
Pathogenicity
Population genetics
Database
Cancer prevention
ACMG
Oncogenomics
Precision oncology
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Summary: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.
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ISSN:1389-9600
1573-7292
1573-7292
DOI:10.1007/s10689-024-00429-5