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- W2912220229 endingPage "217" @default.
- W2912220229 startingPage "183" @default.
- W2912220229 abstract "Colorectal carcinoma (CRC) is the third most common cancer in men and the second most common cancer in women across the world. Most CRCs occur sporadically, but in 15–35% of cases, hereditary factors are important. Some patients with an inherited predisposition to CRC will be diagnosed with a “genetic polyposis syndrome” such as familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), polymerase proofreading associated polyposis (PPAP), NTHL1-associated polyposis, MSH3-associated polyposis or a hamartomatous polyposis syndrome. Individuals with ≥ 10 colorectal polyps have traditionally been referred for genetic diagnostic testing to identify APC and MUTYH mutations which cause FAP and MAP respectively. Mutations are found in most patients with > 100 adenomas but in only a minority of those with 10–100 adenomas. The reasons that diagnostic laboratories are not identifying pathogenic variants include mutations occurring outside of the open reading frames of genes, individuals exhibiting generalized mosaicism and the involvement of additional genes. It is important to identify patients with an inherited polyposis syndrome, and to define the mutations causing their polyposis, so that the individuals and their relatives can be managed appropriately." @default.
- W2912220229 created "2019-02-21" @default.
- W2912220229 creator A5038315564 @default.
- W2912220229 creator A5060161057 @default.
- W2912220229 date "2019-01-01" @default.
- W2912220229 modified "2023-09-27" @default.
- W2912220229 title "The role of inherited genetic variants in colorectal polyposis syndromes" @default.
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