Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine
This article reviews genes and syndromes associated with predisposition to colorectal
cancer (CRC), with an overview of gene variant classification. We include updates on the …
cancer (CRC), with an overview of gene variant classification. We include updates on the …
NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 2.2019: featured updates to the NCCN guidelines
S Gupta, D Provenzale, X Llor, AL Halverson… - Journal of the National …, 2019 - jnccn.org
Identifying individuals with hereditary syndromes allows for improved cancer surveillance,
risk reduction, and optimized management. Establishing criteria for assessment allows for …
risk reduction, and optimized management. Establishing criteria for assessment allows for …
Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing
Importance Since the discovery ofBRCA1andBRCA2, multiple high-and moderate-
penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian …
penetrance genes have been reported as risk factors for hereditary breast cancer, ovarian …
Heterogenous loss of mismatch repair (MMR) protein expression: a challenge for immunohistochemical interpretation and microsatellite instability (MSI) evaluation
AJ McCarthy, JM Capo‐Chichi… - The Journal of …, 2019 - Wiley Online Library
Immunohistochemistry (IHC) for mismatch repair (MMR) proteins is used to identify MMR
status: being diffusely positive (intact/retained nuclear staining) or showing loss of nuclear …
status: being diffusely positive (intact/retained nuclear staining) or showing loss of nuclear …
Screening high‐risk populations for colon and rectal cancers
MA Healy, S Thirumurthi, YN You - Journal of surgical oncology, 2019 - Wiley Online Library
Currently, colorectal cancers accounted for the second‐highest number of cancer deaths in
the US. Hereditary syndromes, strong family history, and inflammatory bowel disease are all …
the US. Hereditary syndromes, strong family history, and inflammatory bowel disease are all …
An Immunoscore System Based On CD3+ And CD8+ Infiltrating Lymphocytes Densities To Predict The Outcome Of Patients With Colorectal Adenocarcinoma
M Trabelsi, F Farah, B Zouari, MH Jaafoura… - OncoTargets and …, 2019 - Taylor & Francis
Purpose The aim of this study was to evaluate the Immunoscore (IS) methodology as a
prognostic marker of colorectal adenocarcinoma in Tunisian population. Tumor blocks were …
prognostic marker of colorectal adenocarcinoma in Tunisian population. Tumor blocks were …
Comprehensive paired tumor/germline testing for Lynch syndrome: bringing resolution to the diagnostic process
MU Salvador, MRF Truelson, C Mason… - Journal of Clinical …, 2019 - ascopubs.org
PURPOSE The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and
often involves multiple follow-up germline and somatic tests. We aimed to describe the …
often involves multiple follow-up germline and somatic tests. We aimed to describe the …
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
M Suerink, M Rodríguez-Girondo, HM van der Klift… - Genetics in …, 2019 - nature.com
Purpose Biallelic pathogenic variants in the mismatch repair (MMR) genes cause a
recessive childhood cancer predisposition syndrome known as constitutional mismatch …
recessive childhood cancer predisposition syndrome known as constitutional mismatch …
Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome
SG Dashti, WY Li, DD Buchanan… - British journal of …, 2019 - nature.com
Background Type 2 diabetes mellitus and high total cholesterol and triglycerides are known
to be associated with increased colorectal cancer risk for the general population. These …
to be associated with increased colorectal cancer risk for the general population. These …
Genetic counseling and surveillance focused on Lynch syndrome
JY Kim, JS Byeon - Journal of the anus, rectum and colon, 2019 - jstage.jst.go.jp
Lynch syndrome is a hereditary cancer syndrome caused by germline mutations in one of
several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of …
several DNA mismatch repair genes. Lynch syndrome leads to an increased lifetime risk of …