Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24427
Abstract: Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole‐exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients… read more here.
Keywords: germline variants; palb2 brca2; germline; chordoma ... See more keywords
Rare germline variants in individuals diagnosed with schizophrenia within multiplex families
Sign Up to like & getrecommendations! Published in 2021 at "Psychiatry Research"
DOI: 10.1016/j.psychres.2021.114038
Abstract: An extensive catalog of common and rare genetic variants contributes to overall risk for schizophrenia and related disorders. As a complement to population genetics efforts, here we present whole genome sequences of multiple affected probands… read more here.
Keywords: schizophrenia; variants individuals; rare germline; individuals diagnosed ... See more keywords
Rare germline variants in known melanoma susceptibility genes in familial melanoma
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DOI: 10.1093/hmg/ddx368
Abstract: Known high-risk cutaneous malignant melanoma (CMM) genes account for melanoma risk in read more here.
Keywords: melanoma; risk; population based; rare germline ... See more keywords
Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Cancer Prevention"
DOI: 10.1097/cej.0000000000000787
Abstract: Background There is a lack of information on rare germline variants of pancreatic cancer-predisposing genes. Risk genes for multiple primary cancers may overlap with those for pancreatic cancer. Methods A retrospective study of autopsy cases… read more here.
Keywords: germline variants; pancreatic cancer; primary cancers; multiple primary ... See more keywords
Rare germline ATM variants of uncertain significance in chronic lymphocytic leukaemia and other cancers
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18419
Abstract: Germline pathogenic ATM (ataxia‐telangiectasia mutated) variants are associated with the risk of multiple cancers; however, genetic testing reveals a large number of ATM variants of uncertain significance (VUS). Here, we studied germline ATM variants occurring… read more here.
Keywords: vus; germline atm; atm variants; rare germline ... See more keywords
Rare Germline Variant in NFATC4 Associated with Familial Chronic Lymphocytic Leukemia
Sign Up to like & getrecommendations! Published in 2017 at "Blood"
DOI: 10.1182/blood.v130.suppl_1.2993.2993
Abstract: Chronic lymphocytic leukemia (CLL) has one of the highest familial risks of any cancer, with up to eightfold increased risk in first degree relatives of CLL patients. Genome-wide association studies (GWAS) have identified multiple common… read more here.
Keywords: cll; rare germline; variant; expression ... See more keywords
Rare Germline ATM Variants Influence the Development of Chronic Lymphocytic Leukemia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.22.00269
Abstract: PURPOSE Germline missense variants of unknown significance in cancer-related genes are increasingly being identified with the expanding use of next-generation sequencing. The ataxia telangiectasia–mutated (ATM) gene on chromosome 11 has more than 1,000 germline missense… read more here.
Keywords: germline atm; atm variants; patients cll; rare germline ... See more keywords