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Article

Comparative analysis of distinct genomic landscapes in young-onset gBRCA1/2 breast cancer.

JCI insight - 22 Jun 2026

Akamandisa Mwangala P, Xia Mingyi, Cheah Wilson, Wubbenhorst Bradley, D'Andrea Kurt P, Fan Mengyao, Shilan Jake S, Pueschl Dana, Nayak Anupma, McKenzie Hayley, Tapper William, Copson Ellen R, Cutress Ramsey I, Domchek Susan M, Eccles Diana M, Nathanson Katherine L

Abstract excerpt

Carriers of germline BRCA1/2 pathogenic variants (gBRCA1/2 PVs) have elevated young-onset breast cancer risk. To define the pretreatment genomic landscapes of young-onset gBRCA-associated breast cancer, we evaluated 136 treatment-naive tumors diagnosed before age 50 in the prospective POSH study and 66 noncarriers from The Cancer Genome Atlas. Using whole-exome sequencing, we analyzed somatic variation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42048167
DOI: 10.1172/jci.insight.203005
PMCID: PMC13313557

Genes

CDK4
BRCA1
FAT1
MYC
RB1
TP53

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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