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The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians.

European journal of human genetics : EJHG - 1 Oct 2024

John Ajoy Oommen, Singh Ashish, Yadav Pratibha, Joel Anjana, Thumaty Divya Bala, Fibi Ninan K, Georgy Josh Thomas, Cherian Anish Jacob, Thomas Shawn, Thomas Anitha, Thomas Vinotha, Peedicayil Abraham, Varghese Deny, Parthiban R, Ravichandran Lavanya, Johnson Jabasteen, Thomas Nihal, Yadav Bijesh, Patricia S, Selvamani B, Abraham Deepak, Paul M J, Chacko Raju Titus, Chapla Aaron

Abstract excerpt

Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing...

Topics

Humans
Female
India
Ovarian Neoplasms
BRCA1 Protein
Adult
Breast Neoplasms
Middle Aged
BRCA2 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Mutation

Aged

High-Throughput Nucleotide Sequencing

Genetic Predisposition to Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 38538877
DOI: 10.1038/s41431-024-01596-w
PMCID: PMC11499860

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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