Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine

L Valle, E Vilar, SV Tavtigian… - The Journal of …, 2019 - Wiley Online Library
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 …

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 …

Association of breast and ovarian cancers with predisposition genes identified by large-scale sequencing

HM Lu, S Li, MH Black, S Lee, R Hoiness, S Wu… - JAMA …, 2019 - jamanetwork.com
Importance Since the discovery ofBRCA1andBRCA2, multiple high-and moderate-
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 …

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 …

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 …

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 …

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 …

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 …

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 …