MUTYH-associated polyposis (MAP)

M Nielsen, H Morreau, HFA Vasen, FJ Hes - Critical reviews in oncology …, 2011‏ - Elsevier
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and
colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene …

TGF-β signaling alterations and colon cancer

N Bellam, B Pasche - Cancer genetics, 2010‏ - Springer
Colorectal cancer is the second most common cause of cancer-related death in the United
States. Twin studies suggest that 35% of all colorectal cancer cases are inherited. High …

Whole-genome landscape of pancreatic neuroendocrine tumours

A Scarpa, DK Chang, K Nones, V Corbo, AM Patch… - Nature, 2017‏ - nature.com
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to
more sensitive detection methods, and this increase is creating challenges for clinical …

Clinical Implications of the Colorectal Cancer Risk Associated With MUTYH Mutation

SJ Lubbe, MC Di Bernardo, IP Chandler… - Journal of Clinical …, 2009‏ - ascopubs.org
Purpose Biallelic mutations in the base excision DNA repair gene MUTYH predispose to
colorectal cancer (CRC). Evidence that monoallelic mutations also confer an elevated CRC …

Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study

SP Cleary, M Cotterchio, MA Jenkins, H Kim, R Bristow… - Gastroenterology, 2009‏ - Elsevier
BACKGROUND & AIMS: The MutY human homologue (MYH) gene is a member of the base-
excision repair pathway involved in the repair of oxidative DNA damage. The objective of …

Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk

ME Croitoru, SP Cleary, N Di Nicola… - Journal of the …, 2004‏ - academic.oup.com
The MutY human homologue (MYH) gene encodes a member of the base excision repair
pathway that is involved in repairing oxidative damage to DNA. Two germline MYH gene …

Risk of Colorectal Cancer in Monoallelic and Biallelic Carriers of MYH Mutations: A Population-Based Case-Family Study

MA Jenkins, ME Croitoru, N Monga… - Cancer Epidemiology …, 2006‏ - aacrjournals.org
Previous case-control studies have suggested that carriers of monoallelic germline
mutations in the MYH gene may be at increased risk of colorectal cancer. We applied a kin …

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

E Theodoratou, H Campbell, A Tenesa… - British journal of …, 2010‏ - nature.com
Background: Defective DNA repair has a causal role in hereditary colorectal cancer (CRC).
Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated …

MUTYH-associated polyposis—from defect in base excision repair to clinical genetic testing

JP Cheadle, JR Sampson - DNA repair, 2007‏ - Elsevier
Established predisposition genes account for only a small proportion of familial colorectal
cancer. Recently, it has been shown that germline mutations in MUTYH predispose to …

Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study

F Balaguer, S Castellví–Bel, A Castells… - Clinical …, 2007‏ - Elsevier
Background & Aims: Whereas it has conclusively been demonstrated that biallelic MutY
human homolog (MYH) mutations confer a significant risk for colorectal cancer (CRC), the …