نتایج جستجو برای: polyposis colorectal cancer

تعداد نتایج: 932929  

Journal: :Journal of clinical pathology 2000
K Shitoh F Konishi M Miyaki T Iijima T Furukawa T Tsukamoto H Nagai

AIMS Microsatellite instability (MSI) was first observed in hereditary non-polyposis colorectal carcinoma (HNPCC) and was subsequently seen in non-familial colorectal carcinoma. The relation between MSI and cancer associated genes in non-familial colorectal carcinomas has yet to be evaluated. To clarify this matter, changes in cancer associated genes were examined in non-familial colorectal car...

Journal: :Human molecular genetics 2001
N S Fearnhead M P Britton W F Bodmer

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of adenomatous polyps in the colon and rectum, with inevitable development of colorectal cancer if left untreated. FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Somatic mutations in the APC gene are an early event in colorectal tumorigenesis, and can ...

Journal: :Gut 2002
M G Dunlop

Within groups of patients with colorectal cancer who report a family history of cancer, it is possible to identify cases associated with defined genetic susceptibility syndromes. These syndromes account for a small, but appreciable, proportion of all cases of colorectal cancer and are characterised by very high absolute cancer risk. There is usually evidence of germline transmission of a domina...

2002
M G Dunlop

Within groups of patients with colorectal cancer who report a family history of cancer, it is possible to identify cases associated with defined genetic susceptibility syndromes. These syndromes account for a small, but appreciable, proportion of all cases of colorectal cancer and are characterised by very high absolute cancer risk. There is usually evidence of germline transmission of a domina...

Journal: :Human molecular genetics 2014
Laura Valle Eva Hernández-Illán Fernando Bellido Gemma Aiza Adela Castillejo María-Isabel Castillejo Matilde Navarro Nuria Seguí Gardenia Vargas Carla Guarinos Miriam Juarez Xavier Sanjuán Silvia Iglesias Cristina Alenda Cecilia Egoavil Ángel Segura María-José Juan María Rodriguez-Soler Joan Brunet Sara González Rodrigo Jover Conxi Lázaro Gabriel Capellá Marta Pineda José Luís Soto Ignacio Blanco

Germline mutations in DNA polymerase ɛ (POLE) and δ (POLD1) have been recently identified in families with multiple colorectal adenomas and colorectal cancer (CRC). All reported cases carried POLE c.1270C>G (p.Leu424Val) or POLD1 c.1433G>A (p.Ser478Asn) mutations. Due to the scarcity of cases reported so far, an accurate clinical phenotype has not been defined. We aimed to assess the prevalence...

Journal: :The Keio journal of medicine 2007
Nicholas O Davidson

Colorectal cancer (CRC) is among the most prevalent and preventable forms of cancer worldwide, accounting for over 600,000 deaths in 2005. Both genetic and environmental factors contribute to cancer etiology and estimates suggest that at least one third of CRC has a familial component. There is increased awareness of a strong genetic component to CRC risk, with the identification of several hig...

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