[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

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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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Service Sector > Institute of Pathology

UniBE Contributor:

Rau, Tilman and Dawson, Heather

Subjects:

500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1432-1963

Publisher:

Springer

Language:

German

Submitter:

Tilman Rau

Date Deposited:

14 Dec 2017 10:06

Last Modified:

14 Dec 2017 10:15

Publisher DOI:

10.1007/s00292-017-0294-9

PubMed ID:

28474162

Uncontrolled Keywords:

Juvenile polyposis Lynch syndrome Peutz-Jeghers syndrome Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) Polymerase proofreading-associated polyposis (PPAP)

BORIS DOI:

10.7892/boris.107522

URI:

https://boris.unibe.ch/id/eprint/107522

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