The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

ML Leoz, S Carballal, L Moreira, T Ocaña… - The application of …, 2015 - Taylor & Francis
Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most
common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were …

[HTML][HTML] Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

C Esteban-Jurado, M Vila-Casadesús, P Garre… - Genetics in …, 2015 - Elsevier
Purpose Colorectal cancer is an important cause of mortality in the developed world.
Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair …

[HTML][HTML] New genes emerging for colorectal cancer predisposition

C Esteban-Jurado, P Garre, M Vila… - World journal of …, 2014 - ncbi.nlm.nih.gov
Colorectal cancer (CRC) is one of the most frequent neoplasms and an important cause of
mortality in the developed world. This cancer is caused by both genetic and environmental …

MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer

MD Giráldez, F Balaguer, L Bujanda… - Clinical Cancer …, 2010 - AACR
Purpose: Early-onset colorectal cancer (CRC) is suggestive of a hereditary predisposition.
Lynch syndrome is the most frequent CRC hereditary cause. The MUTYH gene has also …

[HTML][HTML] The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

C Esteban-Jurado, S Franch-Expósito… - European Journal of …, 2016 - nature.com
Colorectal cancer (CRC) is one of the most common neoplasms in the world. Fanconi
anemia (FA) is a very rare genetic disease causing bone marrow failure, congenital growth …

Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer

L Moreira, J Muñoz, M Cuatrecasas, I Quintanilla… - Cancer, 2015 - Wiley Online Library
BACKGROUND Colorectal cancers (CRCs) that have microsatellite instability (MSI) and
mutL homolog 1 (MLH1) immunoloss are observed in 3 clinical scenarios: Lynch syndrome …

High prevalence of serrated polyposis syndrome in FIT-based colorectal cancer screening programmes

L Moreira, M Pellisé, S Carballal, X Bessa, T Ocaña… - Gut, 2013 - gut.bmj.com
Serrated polyposis syndrome (SPS) is a recently recognised high risk condition for
colorectal cancer (CRC) characterised by the presence of large and/or multiple serrated …

Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in Lynch syndrome

A Sánchez, VH Roos, M Navarro, M Pineda… - Clinical …, 2022 - Elsevier
Background & Aims Colonoscopy reduces colorectal cancer (CRC) incidence and mortality
in Lynch syndrome (LS) carriers. However, a high incidence of postcolonoscopy CRC …

[HTML][HTML] Aberrant gene promoter methylation associated with sporadic multiple colorectal cancer

V Gonzalo, JJ Lozano, J Muñoz, F Balaguer, M Pellise… - PloS one, 2010 - journals.plos.org
Background Colorectal cancer (CRC) multiplicity has been mainly related to polyposis and
non-polyposis hereditary syndromes. In sporadic CRC, aberrant gene promoter methylation …

White-light endoscopy is adequate for Lynch syndrome surveillance in a randomized and noninferiority study

L Rivero-Sánchez, C Arnau-Collell, J Herrero… - Gastroenterology, 2020 - Elsevier
Background & Aims Dye-based pancolonic chromoendoscopy is recommended for
colorectal cancer surveillance in patients with Lynch syndrome. However, there is scarce …