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
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls
Sign Up to like & getrecommendations! Published in 2018 at "Genome Medicine"
DOI: 10.1186/s13073-018-0607-5
Abstract: BackgroundPrior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP… read more here.
Keywords: cancer genes; prevalence; pathogenic likely; cohort ... See more keywords
Prevalence of pathogenic mismatch repair mutations in an Irish cohort after clinical and molecular pre-selection.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2017.35.4_suppl.574
Abstract: 574Background: Lynch syndrome (LS) is a highly penetrant, autosomal dominant multi-system disorder characterised by an inherited predisposition to a range of cancers. LS is caused by germline mutations in one of the mismatch repair (MMR)… read more here.
Keywords: molecular pre; pre selection; prevalence pathogenic; irish cohort ... See more keywords