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Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
(NATURE PUBLISHING GROUP, 2013-12-01)
Urothelial bladder cancer (UBC) is heterogeneous at the clinical, pathological and genetic levels. Tumor invasiveness (T) and grade (G) are the main factors associated with outcome and determine patient management. A ...
Large-scale Sequencing of Testicular Germ Cell Tumour (TGCT) Cases Excludes Major TGCT Predisposition Gene.
(2018-06)
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To ...
Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21.
(SPRINGER, 2016-08-01)
Previous genome-wide association studies (GWAS) of prostate cancer risk focused on cases unselected for family history and have reported over 100 significant associations. The International Consortium for Prostate Cancer ...
Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach.
(PUBLIC LIBRARY SCIENCE, 2015-09-28)
Droplet digital PCR (ddPCR) can be used to detect low frequency mutations in oncogene-driven lung cancer. The range of KRAS point mutations observed in NSCLC necessitates a multiplex approach to efficient mutation detection ...
A genetic study and meta-analysis of the genetic predisposition of prostate cancer in a Chinese population.
(IMPACT JOURNALS LLC, 2016-04-19)
Prostate cancer predisposition has been extensively investigated in European populations, but there have been few studies of other ethnic groups. To investigate prostate cancer susceptibility in the under-investigated ...
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
(NATURE PUBLISHING GROUP, 2018-03-01)
PurposeIntegrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical ...
12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.
(NATURE PORTFOLIO, 2019-09-27)
Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in European populations. We here performed a GWAS and replication study ...
Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations.
(ELSEVIER, 2023-03-01)
BACKGROUND: The European Society for Medical Oncology Precision Medicine Working Group (ESMO PMWG) was reconvened to update its 2018/19 recommendations on follow-up of putative germline variants detected on tumour-only ...
Two Novel Susceptibility Loci for Prostate Cancer in Men of African Ancestry.
(OXFORD UNIV PRESS INC, 2017-08-01)
Prostate cancer incidence is 1.6-fold higher in African Americans than in other populations. The risk factors that drive this disparity are unknown and potentially consist of social, environmental, and genetic influences. ...