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Germline mutational landscape in a large cohort of Indian breast cancer.

BMC cancer - 1 Dec 2025

Peter John, Jolly Bani, Raha Rajdeep, Jothi Jayalakshmi, Chakraborty Avrajit, Raman Swaminathan Ganapathi, Radhakrishnan Selvi, Sivasubbu Sridhar, Scaria Vinod, Mahalingam Sundarasamy

Abstract excerpt

Breast cancer has emerged as the leading malignancy among Indian women, with a notable subset of cases linked to inherited genetic predisposition. Germline testing is a vital tool for identifying individuals at elevated risk, guiding targeted therapies such as PARP inhibitors, and informing preventive strategies through family-based screening. However, population-specific data from India remain limited, and most...

Topics

Adult
Aged
Female
Humans
Middle Aged
BRCA1 Protein
Breast Neoplasms
Cohort Studies
Exome Sequencing
Genetic Predisposition to Disease
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Germ-Line Mutation

India

South Asian People

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Open in PubMed Open full text

Identifiers

PMID: 41327099
DOI: 10.1186/s12885-025-15360-w
PMCID: PMC12797521

Genes

BRCA1
DPYD
RECQL

Provenance

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

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