Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis
Rau TT, Dawson H, Hartmann A, Rueschoff J (2017)
Publication Type: Journal article
Publication year: 2017
Journal
Book Volume: 38
Pages Range: 156-163
Journal Issue: 3
DOI: 10.1007/s00292-017-0294-9
Abstract
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.
Authors with CRIS profile
Involved external institutions
Germany (DE)
Switzerland (CH)How to cite
APA:
Rau, T.T., Dawson, H., Hartmann, A., & Rueschoff, J. (2017). Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis. Pathologe, 38(3), 156-163. https://doi.org/10.1007/s00292-017-0294-9
MLA:
Rau, T. T., et al. "Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis." Pathologe 38.3 (2017): 156-163.
BibTeX: Download