Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines
Sign Up to like & getrecommendations! Published in 2019 at "JAMA Oncology"
DOI: 10.1001/jamaoncol.2018.6760
Abstract: Importance Prostate cancer is the third leading cause of cancer-related death in men in the United States. Although serious, most of these diagnoses are not terminal. Inherited risk for prostate cancer is associated with aggressive… read more here.
Keywords: cancer; genetic testing; prostate cancer; germline variants ... See more keywords
Current review of TP53 pathogenic germline variants in breast cancer patients outside Li‐Fraumeni syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23656
Abstract: Pathogenic germline variants in TP53 predispose carriers to the multi‐cancer Li‐Fraumeni syndrome (LFS). Widespread multigene panel testing is identifying TP53 pathogenic variants in breast cancer patients outside the strict clinical criteria recommended for LFS testing.… read more here.
Keywords: cancer; tp53 pathogenic; germline variants; breast cancer ... 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
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
Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil
Sign Up to like & getrecommendations! Published in 2019 at "Gastric Cancer"
DOI: 10.1007/s10120-019-00945-9
Abstract: IntroductionThe contribution of CDH1 germline variants to gastric cancer burden among young adults is unknown in Brazil. We aimed to evaluate the frequency of CDH1 germline variants and the diet/lifestyle habits in early age onset… read more here.
Keywords: gastric cancer; cdh1; cdh1 germline; germline variants ... See more keywords
Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy
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DOI: 10.1016/j.isci.2021.102248
Abstract: Summary High tumor mutational burden (TMB) is associated with response to checkpoint blockade in several cancers. We identify pathogenic germline variants associated with increased TMB (GVITMB). GVITMB were found in 7 genes using a pan-cancer… read more here.
Keywords: immune checkpoint; tumor mutational; germline variants; checkpoint ... See more keywords
Association of Germline Variants in Human DNA Damage Repair Genes and Response to Adjuvant Chemotherapy in Resected Pancreatic Ductal Adenocarcinoma.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American College of Surgeons"
DOI: 10.1016/j.jamcollsurg.2020.06.019
Abstract: BACKGROUD The frequency and significance of the germline variants in DNA damage repair genes still need to be elucidated in patients with sporadic pancreatic ductal adenocarcinoma (PDAC). Our purpose was to determine whether germline variants… read more here.
Keywords: damage repair; dna damage; repair genes; germline variants ... 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
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0143-1
Abstract: Germline variants that affect function are found in seven genes of the BAF chromatin-remodeling complex. They are linked to a broad range of diseases that, according to the gene affected, range from non-syndromic or syndromic… read more here.
Keywords: chromatin remodeling; remodeling complex; disease; germline ... See more keywords
Lung expression of genes putatively involved in SARS-CoV-2 infection is modulated in cis by germline variants
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00831-y
Abstract: Germline variants in genes involved in SARS-CoV-2 cell entry and in host innate immune responses to viruses may influence the susceptibility to infection. This study used whole-genome analyses of lung tissue to identify polymorphisms acting… read more here.
Keywords: involved sars; expression genes; infection; expression ... See more keywords
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0792-7
Abstract: Somatic variants in tumor necrosis factor receptor–associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define… read more here.
Keywords: spectrum transcriptomic; spectrum; phenotypic spectrum; transcriptomic profile ... See more keywords