Integrating germline and somatic genetics to identify genes associated with lung cancer
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22275
Abstract: Genome‐wide association studies (GWAS) have successfully identified many genetic variants associated with complex traits. However, GWAS experience power issues, resulting in the failure to detect certain associated variants. Additionally, GWAS are often unable to parse… read more here.
Keywords: germline somatic; genetics; integrating germline; lung cancer ... See more keywords
Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Cancer"
DOI: 10.1002/ijc.30820
Abstract: In a proportion of patients presenting mismatch repair (MMR)‐deficient tumors, no germline MMR mutations are identified, the so‐called Lynch‐like syndrome (LLS). Recently, MMR‐deficient tumors have been associated with germline mutations in POLE and MUTYH or… read more here.
Keywords: deficient; msh2; deficient tumors; analysis ... See more keywords
Gynaecological neoplasms in common familial syndromes (Lynch and HBOC).
Sign Up to like & getrecommendations! Published in 2018 at "Pathology"
DOI: 10.1016/j.pathol.2017.10.010
Abstract: Recognising hereditary predisposition in a cancer patient has implications both for the patient and the patient's kindred. For the latter, cascade germline testing can reassure those not-at-risk family members while carriers can be enrolled in… read more here.
Keywords: common familial; germline somatic; neoplasms common; gynaecological neoplasms ... See more keywords
Circadian PERformance in breast cancer: a germline and somatic genetic study of PER3VNTR polymorphisms and gene co-expression
Sign Up to like & getrecommendations! Published in 2021 at "NPJ Breast Cancer"
DOI: 10.1038/s41523-021-00329-2
Abstract: Polymorphisms in the PER3 gene have been associated with several human disease phenotypes, including sleep disorders and cancer. In particular, the long allele of a variable number of tandem repeat (VNTR) polymorphism has been previously… read more here.
Keywords: breast; germline somatic; breast cancer; expression ... See more keywords
Elucidation of the Genomic-Epigenomic Interaction Landscape of Aggressive Prostate Cancer
Sign Up to like & getrecommendations! Published in 2021 at "BioMed Research International"
DOI: 10.1155/2021/6641429
Abstract: Background Majority of prostate cancer (PCa) deaths are attributed to localized high-grade aggressive tumours which progress rapidly to metastatic disease. A critical unmet need in clinical management of PCa is discovery and characterization of the… read more here.
Keywords: aggressive pca; genomic epigenomic; prostate cancer; pca ... See more keywords
A New Frontier for Cancer Genetics: Identification of Germline-Somatic Associations.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer research"
DOI: 10.1158/0008-5472.can-23-0152
Abstract: Studies of the inherited or germline genome have identified rare mutations with large effects and common polymorphisms of more modest effect sizes that are associated with cancer risk. This research has substantially illuminated the etiology… read more here.
Keywords: cancer genetics; new frontier; frontier cancer; germline somatic ... See more keywords
Routine Plasma-Based Genotyping to Comprehensively Detect Germline, Somatic, and Reversion BRCA Mutations among Patients with Advanced Solid Tumors
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-19-2933
Abstract: Purpose: PARP inhibitors (PARPi) are efficacious in multiple cancers harboring germline (and possibly somatic) BRCA1/2 mutations. Acquired reversions can restore BRCA1/2 function, causing resistance to PARPi and/or platinum-based chemotherapy. The optimal method of identifying patients… read more here.
Keywords: patients advanced; germline; brca1 mutations; germline somatic ... See more keywords
Abstract 3128: Using Kmerizer, a germline and somatic genotyper for immune associated complex alleles in GuardantINFINITY, for immunotherapy response prediction using cfDNA
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-3128
Abstract: Background: HLA germline genotypes and somatic mutations show great promise as emerging biomarkers for immune checkpoint inhibitors (ICIs) and understanding patient prognosis. Multiple studies have shown that HLA homozygosity or loss-of-function somatic mutations negatively correlates… read more here.
Keywords: response; kmerizer; prediction; guardantinfinity ... See more keywords
Integrating germline and somatic variation information using genomic data for the discovery of biomarkers in prostate cancer
Sign Up to like & getrecommendations! Published in 2019 at "BMC Cancer"
DOI: 10.1186/s12885-019-5440-8
Abstract: BackgroundProstate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the United States. High-throughput genotyping has enabled discovery of germline genetic susceptibility variants (herein referred… read more here.
Keywords: somatic variation; somatic mutations; cancer; germline somatic ... See more keywords
Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study
Sign Up to like & getrecommendations! Published in 2019 at "BMC Cancer"
DOI: 10.1186/s12885-019-5984-7
Abstract: IntroductionMultiple primary melanomas (MPM) occur up to 8% of patients with cutaneous malignant melanoma (CMM). They are often sporadic harbouring several somatic mutations, but also familial cases harbouring a CDKN2A germline mutation have been describe… read more here.
Keywords: analysis; somatic mutations; primary melanomas; germline somatic ... See more keywords
Genetic testing patterns for homologous recombination repair (HRR) alterations in patients with metastatic prostate cancer (mPC): An assessment at the University of Rochester (UR).
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2019.37.7_suppl.322
Abstract: 322 Background: Germline and somatic HRR alterations are present in 12% and 20% of patients with mPC, respectively, and can have treatment implications. NCCN guidelines recommend offering genetic testing for patients with mPC. This study… read more here.
Keywords: germline somatic; genetic testing; oncology; hrr alterations ... See more keywords