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. 2023 Jul;22(3):323-330.
doi: 10.1007/s10689-023-00328-1. Epub 2023 Jan 31.

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

Bettina Lehman  1 , Elvira Matthäi  2 , Norman Gercke  2 , Ulrike W Denzer  3 , Jens Figiel  3 , Timo Hess  4 , Emily P Slater  2 , Detlef K Bartsch  2
Affiliations

Characteristics of familial pancreatic cancer families with additional colorectal carcinoma

Bettina Lehman et al. Fam Cancer. 2023 Jul.

Abstract

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 < 0.01). Females were affected with PDAC in 49% (36/73) and CRC in 38% (16/42). The median age of PDAC was 63 compared to 66 years in CRC, whereas 8 (26.6%) of families had an early onset of PDAC and 2 (6.7%) of CRC. Seventeen families had 2 or more affected generations with PDAC and 6 families with CRC. Eleven (9.6%) of affected patients had both PDAC and CRC. Potentially causative germline mutations (2 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.

Keywords: Colorectal cancer; Familial pancreatic cancer; Genotype; Mutations; Phenotype.

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Conflict of interest statement

None of the authors has competing financial interests nor other conflicts of interest.

Figures

Fig. 1
Fig. 1
Pedigree of a representative FPC-CRC
See this image and copyright information in PMC

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