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 …

Hereditary and familial colon cancer

KW Jasperson, TM Tuohy, DW Neklason, RW Burt - Gastroenterology, 2010 - Elsevier
Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited
syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated …

Microsatellite instability is associated with the presence of Lynch syndrome pan-cancer

A Latham, P Srinivasan, Y Kemel, J Shia… - Journal of clinical …, 2019 - ascopubs.org
PURPOSE Microsatellite instability (MSI) and/or mismatch repair deficiency (MMR-D) testing
has traditionally been performed in patients with colorectal (CRC) and endometrial cancer …

Milestones of Lynch syndrome: 1895–2015

HT Lynch, CL Snyder, TG Shaw, CD Heinen… - Nature Reviews …, 2015 - nature.com
Lynch syndrome, which is now recognized as the most common hereditary colorectal cancer
condition, is characterized by the predisposition to a spectrum of cancers, primarily …

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

M Dominguez-Valentin, JR Sampson, TT Seppälä… - Genetics in …, 2020 - nature.com
Purpose Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch
syndrome and result in different but imprecisely known cancer risks. This study aimed to …

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 …

Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer

FM Giardiello, JI Allen, JE Axilbund, CR Boland… - Gastroenterology, 2014 - Elsevier
The Multi-Society Task Force, in collaboration with invited experts, developed guidelines to
assist health care providers with the appropriate provision of genetic testing and …

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

HT Lynch, PM Lynch, SJ Lanspa, CL Snyder… - Clinical …, 2009 - Wiley Online Library
More than one million patients will manifest colorectal cancer (CRC) this year of which,
conservatively, approximately 3%(∼ 30,700 cases) will have Lynch syndrome (LS), the most …

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith… - Nature medicine, 2020 - nature.com
Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

[HTML][HTML] A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for …

H Hampel, RL Bennett, A Buchanan, R Pearlman… - Genetics in …, 2015 - Elsevier
Disclaimer: The practice guidelines of the American College of Medical Genetics and
Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are developed …