Abstract
The most common hereditary polyposis syndromes are familial adenomatous polyposis (FAP) and MYH associated polyposis (MAP). Recently four new syndromes of inherited colorectal cancer have been identified that are the result of germline mutations in genes encoding proteins that help to maintain the fidelity of DNA reproduction. These four syndromes include polymerase proofreading associated polyposis (PPAP), NTHL1 associated polyposis (NAP), polyposis associated with mutations in FAN1, and hereditary colon cancer associated with mutations in BUB1/BUB3. The phenotypic features of each of these syndromes differ as do the cancer screening and surveillance strategies. This relative plethora of new hereditary colorectal cancer syndromes increases the complexity of the field, but at the same time fills in gaps that existed in our ability to find a molecular explanation for inheritance of the disease.
In the context of the increasing use of Nextgen sequencing and cancer panels, variants in rare genes may be identified in families and so an increase in our understanding of the implications of these gene mutations is important.
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Church, J. (2016). Polymerase Proofreading Associated Polyposis, and Other New Syndromes of Hereditary Colorectal Cancer. In: Boardman, L. (eds) Intestinal Polyposis Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-28103-2_5
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DOI: https://doi.org/10.1007/978-3-319-28103-2_5
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