| Autor: |
te Paske, Iris B. A. W., Garcia-Pelaez, José, Sommer, Anna K., Matalonga, Leslie, Starzynska, Teresa, Jakubowska, Anna, van der Post, Rachel S., Lubinski, Jan, Oliveira, Carla, Hoogerbrugge, Nicoline, de Voer, Richarda M. |
| Zdroj: |
European Journal of Human Genetics: EJHG; September 2021, Vol. 29 Issue: 9 p1354-1358, 5p |
| Abstrakt: |
Hereditary diffuse gastric cancer (HDGC) is associated with germline deleterious variants in CDH1and CTNNA1. The majority of HDGC-suspected patients are still genetically unresolved, raising the need for identification of novel HDGC predisposing genes. Under the collaborative environment of the SOLVE-RD consortium, re-analysis of whole-exome sequencing data from unresolved gastric cancer cases (n= 83) identified a mosaic missense variant in PIK3CAin a 25-year-old female with diffuse gastric cancer (DGC) without familial history for cancer. The variant, c.3140A>G p.(His1047Arg), a known cancer-related somatic hotspot, was present at a low variant allele frequency (18%) in leukocyte-derived DNA. Somatic variants in PIK3CAare usually associated with overgrowth, a phenotype that was not observed in this patient. This report highlights mosaicism as a potential, and understudied, mechanism in the etiology of DGC. |
| Databáze: |
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