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[Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis].
Pathologe. 2017 May; 38(3):156-163.P

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+Show Affiliations

Institut für Pathologie, Universität Bern, Murtenstrasse 31, 3008, Bern, Schweiz. Tilman.Rau@pathology.unibe.ch.Institut für Pathologie, Universität Bern, Murtenstrasse 31, 3008, Bern, Schweiz.Pathologisches Institut, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Deutschland.Pathologie Nordhessen, Kassel, Deutschland.

Pub Type(s)

Journal Article
Review

Language

ger

PubMed ID

28474162

Citation

Rau, T T., et al. "[Hereditary Colorectal Cancer : an Update On Genetics and Entities in Terms of Differential Diagnosis]." Der Pathologe, vol. 38, no. 3, 2017, pp. 156-163.
Rau TT, Dawson H, Hartmann A, et al. [Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis]. Pathologe. 2017;38(3):156-163.
Rau, T. T., Dawson, H., Hartmann, A., & Rüschoff, J. (2017). [Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis]. Der Pathologe, 38(3), 156-163. https://doi.org/10.1007/s00292-017-0294-9
Rau TT, et al. [Hereditary Colorectal Cancer : an Update On Genetics and Entities in Terms of Differential Diagnosis]. Pathologe. 2017;38(3):156-163. PubMed PMID: 28474162.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hereditary colorectal cancer : An update on genetics and entities in terms of differential diagnosis]. AU - Rau,T T, AU - Dawson,H, AU - Hartmann,A, AU - Rüschoff,J, PY - 2017/5/6/pubmed PY - 2019/4/18/medline PY - 2017/5/6/entrez KW - Juvenile polyposis KW - Lynch syndrome KW - Peutz-Jeghers syndrome KW - Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) KW - Polymerase proofreading-associated polyposis (PPAP) SP - 156 EP - 163 JF - Der Pathologe JO - Pathologe VL - 38 IS - 3 N2 - 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. SN - 1432-1963 UR - https://www.unboundmedicine.com/medline/citation/28474162/[Hereditary_colorectal_cancer_:_An_update_on_genetics_and_entities_in_terms_of_differential_diagnosis]_ L2 - https://dx.doi.org/10.1007/s00292-017-0294-9 DB - PRIME DP - Unbound Medicine ER -