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Article Abstract
The main gene involved in gastric cancer (GC) predisposition is , the pathogenic variants of which are associated with diffuse-type gastric cancer (DGC) and lobular breast cancer (LBC). only explains a fraction (10-50%) of patients suspected of DGC/LBC genetic predisposition. To identify novel susceptibility genes, thus improving the management of families at risk, we performed a multigene panel testing on selected patients. We searched for germline pathogenic variants in 94 cancer-related genes in 96 GC or LBC Italian patients with early-onset and/or family history of GC. We found pathogenic variants in 10.4% of patients. In 11.5% of cases, we identified loss-of-function variants in , , , and breast/ovarian cancer susceptibility genes, as well as in , , , , and genes. In 78.1% of patients, we did not find any variants with clear-cut clinical significance; however, 37.3% of these cases harbored rare missense variants predicted to be damaging by bioinformatics tools. Multigene panel testing decreased the number of patients that would have otherwise remained genetically unexplained. Besides , our results demonstrated that GC pathogenic variants are distributed across a number of susceptibility genes and reinforced the emerging link between gastric and breast cancer predisposition.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769562 | PMC |
| http://dx.doi.org/10.3390/cancers11091340 | DOI Listing |
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