Pathogenic germline variants were identified in 8% cancer patients in latest study


A large integrated investigation of suspected variants in cancer patients was conducted, including 10389 adult cases from 33 cancer types. A total of 853 pathogenic/likely pathogenic variants were identified in this study, and they were distributed in 8% of the cases. Moreover, 21 genes were related to single or multiple cancers and some were novel findings. For example, SDHA is related to melanoma and stomach adenocarcinoma patients carried PALB2 mutation. In this study, 659 suspected variants and 18 large deletions in tumor suppressor genes, such as ATM, BRCA1 and NF1, indicated low gene expression and loss of heterozygosity or biallelic two-hit events. There were 33 variants in oncogenes, including missenses of MET, RET, and PTPN11, linked to high gene expression. Researchers also reclassified 47 other suspected variants (VUS) from the previous study supported by multiple data involving case-control frequency, loss of heterozygosity, expression effect and co-localization with mutations and modified residues. Using their analysis models could combine rare suspected variants with clinical phenotypes, providing future principles of hereditary variant classification and genetic testing in cancer patients.

Huang KL, et al. Cell. 173(2):355-370.e14 (2018)

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