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Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia.

Gene - 1 May 2012

Levanat Sonja, Musani Vesna, Cvok Mirela Levacic, Susac Ilona, Sabol Maja, Ozretic Petar, Car Diana, Eljuga Domagoj, Eljuga Ljerka, Eljuga Damir

Abstract excerpt

BRCA1 and BRCA2 genes from 167 candidates (145 families) were scanned for mutations. We identified 14 pathogenic point mutations in 17 candidates, 9 in BRCA1 and 5 in BRCA2. Of those, 11 have been previously described and 3 were novel (c.5335C>T in BRCA1 and c.4139_4140dupTT and c.8175G>A in BRCA2). No large deletions or duplications involving BRCA1 and BRCA2 genes were identified. No founder mutations were...

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Source

Identifiers

PMID: 22366370
DOI: 10.1016/j.gene.2012.02.010

Genes

BRCA1
BRCA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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