Prevalence of pathogenic variants in cancer-predisposing genes in second cancer after childhood solid cancers.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer medicine"
DOI: 10.1002/cam4.5835
Abstract: Second malignant neoplasms (SMNs) are one of the most severe late complications after pediatric cancer treatment. However, the effect of genetic variation on SMNs remains unclear. In this study, we revealed germline genetic factors that… read more here.
Keywords: pathogenic variants; prevalence pathogenic; variants cancer; cancer predisposing ... See more keywords
A decade of RAD51C and RAD51D germline variants in cancer
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24319
Abstract: Defects in DNA repair genes have been extensively associated with cancer susceptibility. Germline pathogenic variants (GPV) in genes involved in homologous recombination repair pathways predispose to cancers arising mainly in the breast and ovary, but… read more here.
Keywords: cancer; germline variants; rad51d germline; variants cancer ... See more keywords
Massively parallel phenotyping of coding variants in cancer with Perturb-seq.
Sign Up to like & getrecommendations! Published in 2022 at "Nature biotechnology"
DOI: 10.1038/s41587-021-01160-7
Abstract: Genome sequencing studies have identified millions of somatic variants in cancer, but it remains challenging to predict the phenotypic impact of most. Experimental approaches to distinguish impactful variants often use phenotypic assays that report on… read more here.
Keywords: cancer; impact; perturb seq; variants cancer ... See more keywords
DrugCVar: a platform for evidence-based drug annotation for genetic variants in cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btac273
Abstract: MOTIVATION Targeted therapy for cancer-related genetic variants is critical for precision medicine. Although several databases including The Clinical Interpretation of Variants in Cancer (CIViC), The Oncology Knowledge Base (OncoKB), The Cancer Genome Interpreter (CGI), My… read more here.
Keywords: variants cancer; genetic variants; evidence; annotation ... See more keywords
Ancestry-specific predisposing germline variants in cancer
Sign Up to like & getrecommendations! Published in 2020 at "Genome Medicine"
DOI: 10.1186/s13073-020-00744-3
Abstract: Background Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of germline genomes are required to inform cancer genetic risk and prognosis of diverse populations. Methods… read more here.
Keywords: variants cancer; predisposition; association; cancer ... See more keywords