BRCA1 founder mutations do not contribute to increased risk of gastric cancer in the Polish population

Hereditary Cancer in Clinical Practice
Małgorzata ŁawniczakTeresa Starzyńska

Abstract

Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and BRCA2 mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selected recurrent BRCA1 and BRCA2 mutations in the Polish population. Three hundred seventeen GC patients (193 males and 124 females; mean age 59.5 ± 12.8 y) diagnosed at the Department of Gastroenterology at the Pomeranian Medical University were included in this retrospective study. All patients were genotyped for 3 BRCA1 Polish founder mutations (5382insC, C61G and 4153delA) as well as for 9 known recurrent mutations in BRCA1 and BRCA2 genes. Genotyping was performed using allele-specific oligonucleotide polymerase chain reaction (ASA-PCR) for 4153delA and 5382insC, restriction fragment length polymorphism (PCR-RFLP) for C61G and TaqMan real-time PCR for 185delAG, 3819del5, 3875del4, 5370C > T, 886delGT, 4075delGT, 5467insT, 6174delT and 8138del5. Among tested mutations one founder BRCA1 mutation 5382insC was detected in two of 317 (0.63 %) GC cases. A...Continue Reading

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Citations

Aug 22, 2017·Frontiers in Surgery·Humair S QuadriWaddah B Al-Refaie
Jul 21, 2020·Journal of Cellular and Molecular Medicine·Evangelos KoustasAthanasios G Papavassiliou
Aug 10, 2021·World Journal of Clinical Oncology·Elena MaccaroniRossana Berardi

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