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Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.

Familial cancer - 1 Dec 2012

Moreira Miguel A M, Bobrovnitchaia Irina G, Lima Maria Angélica F D, Santos Anna Cláudia E, Ramos Jesus P, Souza Kelly R L, Peixoto Ana, Teixeira Manuel R, Vargas Fernando R

Abstract excerpt

We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in...

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Source

Identifiers

PMID: 22829013
DOI: 10.1007/s10689-012-9551-5

Genes

BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22829013-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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