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Uncovering Hereditary Risk: Germline Homologous Recombination Repair Variant Spectrum in a Large North Indian Cancer Cohort (INSIGHT-HRR).

JCO global oncology - 1 Aug 2026

Kapoor Akhil, Uthale Srushti, Chain Anamika, Rungta Archi, Anoop Anjana, Gupta Anuj, Sansar Bipinesh, Mishra Bal Krishna, Pal Ankita, Thakkar Soumya, Sarin Rajiv

Abstract excerpt

PURPOSE: Homologous recombination repair (HRR) pathway defects are critical drivers of hereditary cancers, yet population-specific prevalence data from India remain limited. Current testing practices disproportionately focus on BRCA1/2, potentially underidentifying patients with other HRR gene variants who could benefit from targeted therapies. METHODS: A retrospective observational cohort study was conducted,...

Topics

Humans
Female
India
Retrospective Studies
Middle Aged
Germ-Line Mutation
Adult
Genetic Predisposition to Disease
Recombinational DNA Repair
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Cohort Studies

Neoplasms

Aged

Source

Identifiers

PMID: 42594331
DOI: 10.1200/GO-25-00640

Genes

BRCA1
BRCA2
PALB2
ATM
BARD1
BRIP1
CHEK2
FANCC
MRE11
NBN
RAD50
RAD51C
RAD51D

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

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