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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

Breast cancer research and treatment - 1 Jul 2008

Anagnostopoulos Theodore, Pertesi Maroulio, Konstantopoulou Irene, Armaou Sofia, Kamakari Smaragda, Nasioulas George, Athanasiou Athanassios, Dobrovic Alex, Young Mary-Anne, Goldgar David, Fountzilas George, Yannoukakos Drakoulis

Abstract excerpt

We have performed screening in 287 breast/ovarian cancer families in Greece which has revealed that approximately 12% (8/65) of all index patients-carriers of a deleterious mutation in BRCA1 and BRCA2 genes, contain the base substitution G to A at position 5331 of BRCA1 gene. This generates the amino acid change G1738R for which based on a combination of genetic, in silico and histopathological analysis there are...

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Identifiers

PMID: 17902052
DOI: 10.1007/s10549-007-9729-y

Genes

BRCA1
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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