Results 91 to 100 of about 21,552 (215)
ABSTRACT Purpose Germline genetic testing in patients with advanced prostate cancer (PCa) is underutilized and hypothesized to be impacted by socioeconomic and demographic factors. This single institution, retrospective study assessed the association of income and social vulnerability with genetic referrals and testing.
Alexandra T. Skowron +8 more
wiley +1 more source
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
Background In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and penetrance of cancers in carriers ...
Wenche Sjursen +12 more
doaj +1 more source
Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature. [PDF]
PURPOSE Microsatellite instability (MSI) and mismatch repair (MMR) gene expression present a hallmark mutational signature of Lynch syndrome as a common hereditary cancer predisposing condition.
Emami, Mohammad Hassan. +5 more
core +1 more source
Abstract Background Approximately 10%–15% of patients with pancreatic ductal adenocarcinoma (PDAC) harbor pathogenic germline genetic alterations with direct therapeutic and hereditary cancer implications, leading to guideline recommendations for universal germline genetic testing regardless of family history.
Udhayvir S. Grewal +11 more
wiley +1 more source
GENETIC COUNSELOR UTILIZATION AND INTERPRETATION OF SOMATIC TUMOR TESTING IN EVALUATION FOR LYNCH SYNDROME [PDF]
Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed ...
Williams, Danielle
core +1 more source
Using gene targeting in embryonic stem cells, we have derived mice with a null mutation in a DNA mismatch repair gene homolog, PMS2. We observed microsatellite instability in the male germline, in tail, and in tumor DNA of PMS2-deficient animals. We therefore conclude that PMS2 is involved in DNA mismatch repair in a variety of tissues.
Baker, S.M. +11 more
openaire +3 more sources
Do all colorectal mucinous adenocarcinomas arise via the serrated neoplasia pathway?
Abstract Colorectal mucinous adenocarcinomas (MACs) and serrated adenocarcinomas (SACs) demonstrate considerable overlap in morphological and molecular features, suggesting a spectrum rather than two distinct tumour types. This study investigates the presence of serrated morphological features, precursors, and molecular features in a large cohort of ...
Anne‐Marie Vos +7 more
wiley +1 more source
A mutation in POLE predisposing to a multi-tumour phenotype [PDF]
Somatic mutations in the POLE gene encoding the catalytic subunit of DNA polymerase epsilon have been found in sporadic colorectal cancers (CRCs) and are most likely of importance in tumour development and/or progression.
Hultén, Leif +8 more
core +1 more source
Pancreatic Cancer—Advances in the Last 50 Years
World Journal of Surgery, EarlyView.
S. George Barreto +5 more
wiley +1 more source
ABSTRACT Background Deficient mismatch repair/microsatellite instability‐High (dMMR/MSI‐H) colorectal cancer (CRC) generally confers a favorable survival yet is paradoxically enriched for poorly differentiated (Por) histology, which is linked to aggressive behavior.
Tomoyuki Momma +9 more
wiley +1 more source

