ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes

S Syngal, RE Brand, JM Church… - Official journal of the …, 2015 - journals.lww.com
This guideline presents recommendations for the management of patients with hereditary
gastrointestinal cancer syndromes. The initial assessment is the collection of a family history …

Lynch syndrome–associated colorectal cancer

FA Sinicrope - New England Journal of Medicine, 2018 - Mass Medical Soc
Key Clinical Points Lynch Syndrome–Associated Colorectal Cancer The Lynch syndrome is
the most common inherited syndrome associated with colorectal cancer, accounting for 3 …

[HTML][HTML] Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline

PA Konstantinopoulos, B Norquist… - Journal of clinical …, 2020 - ncbi.nlm.nih.gov
PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed
with epithelial ovarian cancer based on available evidence and expert consensus …

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 …

Prevalence and penetrance of major genes and polygenes for colorectal cancer

AK Win, MA Jenkins, JG Dowty, AC Antoniou… - … Biomarkers & Prevention, 2017 - AACR
Background: Although high-risk mutations in identified major susceptibility genes (DNA
mismatch repair genes and MUTYH) account for some familial aggregation of colorectal …

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

HFA Vasen, I Blanco, K Aktan-Collan, JP Gopie… - Gut, 2013 - gut.bmj.com
Lynch syndrome (LS) is characterised by the development of colorectal cancer, endometrial
cancer and various other cancers, and is caused by a mutation in one of the mismatch repair …

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome

V Bonadona, B Bonaïti, S Olschwang, S Grandjouan… - Jama, 2011 - jamanetwork.com
Context Providing accurate estimates of cancer risks is a major challenge in the clinical
management of Lynch syndrome. Objective To estimate the age-specific cumulative risks of …

[图书][B] WHO classification of tumours of the digestive system.

FT Bosman, F Carneiro, RH Hruban, ND Theise - 2010 - cabdirect.org
This book is the third volume of the 4th Edition of the WHO series on histological and genetic
typing of human tumours. It is an authoritative, concise reference book providing an …

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

BA Thompson, AB Spurdle, JP Plazzer, MS Greenblatt… - Nature …, 2014 - nature.com
The clinical classification of hereditary sequence variants identified in disease-related genes
directly affects clinical management of patients and their relatives. The International Society …

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 …