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Article

A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele.

European journal of human genetics : EJHG - 1 Jun 2002

Solano Angela R, Dourisboure Ricardo J, Weitzel Jeffrey, Podesta Ernesto J

Abstract excerpt

Sequencing an amplification product of the terminal segment of BRCA2 exon 11 showed apparent homozygosity for the 6174delT mutation in two healthy sisters. Subsequent sequencing of an alternate overlapping amplicon revealed the presence of the 5972C >T polymorphism, which is within the standard upstream amplification primer. This mismatch was responsible for the failure to amplify the normal (5972T) allele in...

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Source

Identifiers

PMID: 12080393
DOI: 10.1038/sj.ejhg.5200821

Genes

BRCA2

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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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