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BRCA1 and BRCA2 screening of nine Chilean founder mutations through allelic-discrimination and real-time PCR in breast/ovarian cancer patients.

Molecular biology reports - 1 Aug 2022

Alvarez Carolina, Ortega-Hernández Victoria, Cortez Aracely, Carvallo Pilar

Abstract excerpt

BACKGROUND: In a previous work, we identified nine founder mutations present in close to 80% of BRCA1 and BRCA2 mutation carriers, and distributed across the country. The presence of founder mutations constitutes a valuable opportunity to develop new strategies for genetic screening. Genetic tests are primarily performed by NGS sequencing, which requires sophisticated and expensive equipment, and it takes...

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Identifiers

PMID: 35596815
DOI: 10.1007/s11033-022-07561-4
PMCID: PMC9123627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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