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Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Breast cancer research and treatment - 1 Sept 2021

Ren Megan, Orozco Anali, Shao Kang, Albanez Anaseidy, Ortiz Jeremy, Cao Boyang, Wang Lusheng, Barreda Lilian, Alvarez Christian S, Garland Lisa, Wu Dongjing, Chung Charles C, Wang Jiahui, Frone Megan, Ralon Sergio, Argueta Victor, Orozco Roberto, Gharzouzi Eduardo, Dean Michael

Abstract excerpt

PURPOSE: Mutations in hereditary breast cancer genes play an important role in the risk for cancer. METHODS: Cancer susceptibility genes were sequenced in 664 unselected breast cancer cases from Guatemala. Variants were annotated with ClinVar and VarSome. RESULTS: A total of 73 out of 664 subjects (11%) had a pathogenic variant in a high or moderate penetrance gene. The most frequently mutated genes were BRCA1...

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Identifiers

PMID: 34196900
DOI: 10.1007/s10549-021-06305-5
PMCID: PMC8357728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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