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Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.

Familial cancer - 1 Apr 2018

Krivokuca Ana, Dragos Vita Setrajcic, Stamatovic Ljiljana, Blatnik Ana, Boljevic Ivana, Stegel Vida, Rakobradovic Jelena, Skerl Petra, Jovandic Stevo, Krajc Mateja, Magic Mirjana Brankovic, Novakovic Srdjan

Abstract excerpt

Mutations in breast cancer susceptibility gene 1 (BRCA1) lead to defects in a number of cellular pathways including DNA damage repair and transcriptional regulation, resulting in the elevated genome instability and predisposing to breast and ovarian cancers. We report a novel mutation LRG_292t1:c.4356delA,p.(Ala1453Glnfs*3) in the 12th exon of BRCA1, in the splice site region near the donor site of intron 12. It...

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Identifiers

PMID: 28685474
DOI: 10.1007/s10689-017-0022-x

Genes

BRCA1

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