Next-generation sequencing in oncology: genetic diagnosis, risk prediction and cancer classification
R Kamps, RD Brandão, BJ van den Bosch… - International journal of …, 2017 - mdpi.com
Next-generation sequencing (NGS) technology has expanded in the last decades with
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …
significant improvements in the reliability, sequencing chemistry, pipeline analyses, data …
[HTML][HTML] Inherited DNA-repair gene mutations in men with metastatic prostate cancer
Background Inherited mutations in DNA-repair genes such as BRCA2 are associated with
increased risks of lethal prostate cancer. Although the prevalence of germline mutations in …
increased risks of lethal prostate cancer. Although the prevalence of germline mutations in …
Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer
R Pearlman, WL Frankel, B Swanson, W Zhao… - JAMA …, 2017 - jamanetwork.com
Importance Hereditary cancer syndromes infer high cancer risks and require intensive
cancer surveillance, yet the prevalence and spectrum of these conditions among unselected …
cancer surveillance, yet the prevalence and spectrum of these conditions among unselected …
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or …
Multigene panel tests for hereditary cancer syndromes are increasingly utilized in the care of
colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels …
colorectal cancer (CRC) and polyposis patients. However, widespread availability of panels …
Genomic subtypes of non-invasive bladder cancer with distinct metabolic profile and female gender bias in KDM6A mutation frequency
Bladder cancer incurs a higher lifetime treatment cost than other cancers due to frequent
recurrence of non-invasive disease. Improved prognostic biomarkers and localized therapy …
recurrence of non-invasive disease. Improved prognostic biomarkers and localized therapy …
Role of POLE and POLD1 in familial cancer
P Mur, S García-Mulero, J Del Valle… - Genetics in …, 2020 - nature.com
Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …
BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a …
M Suszynska, M Ratajska, P Kozlowski - Journal of ovarian research, 2020 - Springer
Background It is estimated that more than 20% of ovarian cancer cases are associated with
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …
a genetic predisposition that is only partially explained by germline mutations in the BRCA1 …
Prospective statewide study of universal screening for hereditary colorectal cancer: the Ohio colorectal cancer prevention initiative
R Pearlman, WL Frankel, BJ Swanson… - JCO Precision …, 2021 - ascopubs.org
PURPOSE Hereditary cancer syndromes infer high cancer risks and require intensive
surveillance. Identification of high-risk individuals among patients with colorectal cancer …
surveillance. Identification of high-risk individuals among patients with colorectal cancer …
Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair–targeted therapies
C Tlemsani, N Takahashi, L Pongor… - Science translational …, 2021 - science.org
Because tobacco is a potent carcinogen, secondary causes of lung cancer are often
diminished in perceived importance. To assess the extent of inherited susceptibility to small …
diminished in perceived importance. To assess the extent of inherited susceptibility to small …
Genomic characterization of prostatic ductal adenocarcinoma identifies a high prevalence of DNA repair gene mutations
PURPOSE Ductal prostate cancer (dPC) is a rare variant of prostatic adenocarcinoma
associated with poor outcomes. Although its histopathologic features are well characterized …
associated with poor outcomes. Although its histopathologic features are well characterized …