Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

Autor: Bettina Lehman, Elvira Matthäi, Norman Gercke, Ulrike W. Denzer, Jens Figiel, Timo Hess, Emily P. Slater, Detlef K. Bartsch
Rok vydání: 2023
Předmět:
Zdroj: Familial Cancer.
ISSN: 1573-7292
1389-9600
Popis: Familial pancreatic cancer (FPC) is a rare hereditary tumor entity with broad phenotypic heterogeneity, including colorectal carcinoma (CRC) in some families. The underlying factors for this co-occurrence are still not well evaluated. FPC families in the National Case Collection of Familial Pancreatic Cancer with an additional occurrence of CRC were analyzed regarding the phenotype, genotype and recommendation for a clinical screening program. The total cohort of 272 FPC families included 30 (11%) families with at least one CRC case. The proportion of affected family members with PDAC was 16.1% (73/451) compared to 9.3% of family members with CRC (42/451, p ATM, 1 CDKN2a, 1 MLH1, 1 PALB2) were detected in 5 of 18 (27.7%) analyzed cases. These findings provide a step forward to include the phenotypic and genotypic characteristics of FPC-CRC families for the genetic counseling and management of these families. Nevertheless, results need to be verified in a larger patient cohort beforehand.
Databáze: OpenAIRE
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