Stefan Aretz
Prof. Dr. Stefan Aretz
  • Institut für Humangenetik, Universitätsklinikum Bonn
Research topics
  • familial colorectal cancer
  • gastrointestinal polyposis syndromes
  • hereditary tumour syndromes
  • identification and characterisation of rare germline variants
I am working in the field of hereditary tumor syndromes (HTS) for almost 20 years with a broad experience in genetic counseling and differential diagnostics, molecular genetic diagnostics, and various research studies. My special interest is to improve the identification and appropriate care of families affected by a genetic tumor predisposition. I am the head of the research group HTS at the Institute of Human Genetics and leader of the thematic group Lynch syndrome and polyposis of the ERN GENTURIS. My long-term research interest focuses on familial and hereditary colorectal cancer, in particular Lynch syndrome and gastrointestinal polyposes through (i) clinical descriptions, (ii) improvement of molecular genetic diagnostics; (iii) uncovering the genetic causes by identification of cryptic mutations in established genes and novel causative genes; (iv) the characterization of unclear genetic variants; and (v) evaluation and improvement of surveillance and preventive strategies.
Selected publications

Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, v O Hansen T, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington S, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S on behalf of the InSiGHT - ClinGen Hereditary Colon Cancer / Polyposis Variant Curation Expert Panel (2023). Gene-specific ACMG/AMP classification criteria for constitutional APC variants: recom-mendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel. Genet Med (in press). PMID: 37800450

Hassanin E, Spier I, Bobbili DR, Aldisi R, Klinkhammer H, David F, Dueñas N, Hüneburg R, Perne C, Brunet J, Capella G, Nöthen MM, Forstner AJ, Mayr A, Krawitz P, May P, Aretz S*, Maj C* (2023). Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence. BMC Med Genomics 16:42. PMID: 36872334

Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmüller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nöthen MM, Büttner M, Möslein G, Betz RC, Brieger A, Lifton RP, Aretz S (2016). Exome sequencing identifies biallelic MSH3 germline mutations as recessive subtype of colorectal adenomatous polyposis. Am J Hum Genet 99:337-51. PMID:27476653

Spier I, Drichel D, Kerick M, Kirfel J, Horpaopan S, Laner A, Holzapfel S, Peters S, Adam R, Zhao B, Becker T, Lifton RP, Perner S, Hoffmann P, Kristiansen G, Timmermann B, Nöthen MM, Holinski-Feder E, Schweiger MR, Aretz S (2016). Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. J Med Genet 53:172-9. PMID: 26613750

Stefan Aretz
Prof. Dr. Stefan Aretz
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