Familial colorectal cancer.

Identifying individuals with a genetic predisposition to developing familial colorectal cancer (CRC) is crucial to the management of the affected individual and their family. In order to do so, the physician requires an understanding of the different gene mutations and clinical manifestations of familial CRC. This review summarises the genetics, clinical manifestations and management of the known familial CRC syndromes, specifically Lynch syndrome, familial adenomatous polyposis, MUTYH-associated neoplasia, juvenile polyposis syndrome and Peutz-Jeghers syndrome. An individual suspected of having a familial CRC with an underlying genetic predisposition should be referred to a familial cancer centre to enable pre-test counselling and appropriate follow up.

Lung MS ，Trainer AH ，Campbell I ，Lipton L ... -  《-》

Pathology and genetics of hereditary colorectal cancer.

Colorectal cancer (CRC) accounts for over 8% of all deaths annually worldwide. Between 2 and 5% of all CRCs occur due to inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis and Cowden/PTEN hamartoma syndrome. In addition, serrated polyposis is a clinically defined condition characterised by multiple colorectal serrated polyps and an increased risk of CRC but the genetics are not known. In most hereditary CRC syndromes, polyps undergo carcinogenesis, but the exact route to carcinoma seems to differ between the conditions. Discovery of the key germline mutations in these syndromes has been instrumental to our understanding of the underlying molecular mechanisms of colorectal carcinogenesis. This review summarises the genetic and pathological alterations in hereditary CRC syndromes.

Ma H ，Brosens LAA ，Offerhaus GJA ，Giardiello FM ，de Leng WWJ ，Montgomery EA ... -  《-》

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

Syngal S ，Brand RE ，Church JM ，Giardiello FM ，Hampel HL ，Burt RW ，American College of Gastroenterology ... -  《-》

The genetics of inherited predispositions to colorectal polyps: a quick guide for clinicians.

Ricci MT ，Salemme M ，Villanacci V ，Varesco L ... -  《-》

Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients.

Tanskanen T ，Gylfe AE ，Katainen R ，Taipale M ，Renkonen-Sinisalo L ，Mecklin JP ，Järvinen H ，Tuupanen S ，Kilpivaara O ，Vahteristo P ，Aaltonen LA ... -  《-》