[Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis].

Rau, Tilman; Dawson, Heather; Hartmann, A; Rüschoff, J (2017). [Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis]. Der Pathologe, 38(3), pp. 156-163. Springer 10.1007/s00292-017-0294-9

Preview

Text 10.1007%2Fs00292-017-0294-9.pdf - Published Version Available under License Publisher holds Copyright. Download (973kB) | Preview

The pathologist can contribute to recognizing hereditary causes of colorectal cancer via morphology. By identifying so-called index patients, it is possible to take preventive measures in affected families. The precise definition of the clinical presentation and the histopathological phenotype help to narrow the spectrum of expected genetic alterations. Novelties within Lynch syndrome include the recognition of EPCAM as a fifth gene locus, as well as the newly defined Lynch-like syndrome with evidence of somatic mismatch repair (MMR) mutations. With regard to polyposis-associated syndromes, the spectrum of polyps, whether serrated, hamartomatous or classic adenoma, is of crucial importance. The resulting differential diagnosis includes (attenuated) familial adenomatous polyposis ([a]FAP), MUTYH-associated polyposis (MAP), polymerase proofreading-associated polyposis (PPAP), phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS), Peutz-Jeghers syndrome and juvenile polyposis, each with a specific genetic background.

Interest & Impact

Downloads

119 since deposited on 14 Dec 2017
47 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item