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

Autor: Vatsyayan A; CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Anu RI; University of Malta, Msida, Malta., Mathur P; Department of Biological Sciences, Birla Institute of Technology and Science, Pilani Campus, Pilani, Rajasthan, India., Uchil D; Mumbai Oncocare Center, Mumbai, India., Joshi A; Mumbai Oncocare Center, Mumbai, India., Dwivedi A; Army Hospital Research and Referral, New Delhi, India., Sirohi B; Balco Medical Centre, Raipur, Chhattisgarh, India., Mathew A; Ernakulam Medical Centre and MOSC Medical College, Kochi, Kerala, India., Damodaran D; MVR Cancer Center and Research Institute, Calicut, Kerala, India., Panda SS; IMS and SUM Hospital, Kalinga Nagar Bhubaneswar, Bhubaneswar, Odisha, India., Kolluri S; IMS and SUM Hospital, Kalinga Nagar Bhubaneswar, Bhubaneswar, Odisha, India., Ayillath SK; Baby Memorial Hospital, Kozhikode, Kerala, India., Amalnath D; Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Shankar G; Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India., Pandhare K; CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi, 110025, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Scaria V; CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), Mathura Road, Delhi, 110025, India. vinods@igib.in.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India. vinods@igib.in.; Vishwanath Cancer Care Foundation, B 702, Neelkanth Business Park Kirol Village, Mumbai, 400 086, India. vinods@igib.in.; Gangwal School of Medical Science and Technology, IIT Kanpur, Kanpur, India. vinods@igib.in.; Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, India. vinods@igib.in.
Jazyk: angličtina
Zdroj: Familial cancer [Fam Cancer] 2024 Nov 15; Vol. 24 (1), pp. 4. Date of Electronic Publication: 2024 Nov 15.
DOI: 10.1007/s10689-024-00429-5
Abstrakt: 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.
Competing Interests: 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.
(© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
Externí odkaz: