Features of patients with hereditary mixed polyposis syndrome caused by duplication of GREM1 and implications for screening and surveillance

Autor: Eran Goldin, Yael Goldberg, Ephrat Levy-Lahad, Nitzan Sharon, Tomer Adar, Liat Ben Avi, Rachel Beeri, Colin Pritchard, Hagit N. Baris, Tom Walsh, Mary Claire King, Elizabeth E. Half, Ian Tomlinson, Israela Lerer, Menachem Schechter, Brian H. Shirts, Sari Lieberman, Tamar Peretz
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Male
0301 basic medicine
Oncology
Heredity
Time Factors
Colorectal cancer
DNA Mutational Analysis
Gastroenterology
Gene Duplication
Tubulovillous adenoma
Gene duplication
Israel
Early Detection of Cancer
Aged
80 and over
biology
Colonoscopy
Middle Aged
Lynch syndrome
Ashkenazi jews
Pedigree
Phenotype
Adenomatous Polyposis Coli
Molecular Diagnostic Techniques
Disease Progression
Intercellular Signaling Peptides and Proteins
Female
Adult
medicine.medical_specialty
Colon
Adenomatous polyposis coli
Familial adenomatous polyposis
Young Adult
03 medical and health sciences
Internal medicine
Biomarkers
Tumor
medicine
Humans
Genetic Predisposition to Disease
Aged
Hepatology
business.industry
Cancer
medicine.disease
Colorectal Neoplasms
Hereditary Nonpolyposis
030104 developmental biology
Jews
Mutation
biology.protein
business
Popis: Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer. Their clinical features include extra-colonic tumors, onset of polyps in adolescence, and rapid progression of some polyps to advanced adenomas. One family met diagnostic criteria for Lynch syndrome. Expansion of the hereditary mixed polyposis syndrome phenotype can inform surveillance strategies for carriers of GREM1 duplications.
Databáze: OpenAIRE
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