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Characteristics of familial pancreatic cancer families with additional colorectal carcinoma
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 Pancreat...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Netherlands
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276072/ https://www.ncbi.nlm.nih.gov/pubmed/36717525 http://dx.doi.org/10.1007/s10689-023-00328-1 |
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author | Lehman, Bettina Matthäi, Elvira Gercke, Norman Denzer, Ulrike W. Figiel, Jens Hess, Timo Slater, Emily P. Bartsch, Detlef K. |
author_facet | Lehman, Bettina Matthäi, Elvira Gercke, Norman Denzer, Ulrike W. Figiel, Jens Hess, Timo Slater, Emily P. Bartsch, Detlef K. |
author_sort | Lehman, Bettina |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10276072 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer Netherlands |
record_format | MEDLINE/PubMed |
spelling | pubmed-102760722023-06-18 Characteristics of familial pancreatic cancer families with additional colorectal carcinoma Lehman, Bettina Matthäi, Elvira Gercke, Norman Denzer, Ulrike W. Figiel, Jens Hess, Timo Slater, Emily P. Bartsch, Detlef K. Fam Cancer Research 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. Springer Netherlands 2023-01-31 2023 /pmc/articles/PMC10276072/ /pubmed/36717525 http://dx.doi.org/10.1007/s10689-023-00328-1 Text en © The Author(s) 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Lehman, Bettina Matthäi, Elvira Gercke, Norman Denzer, Ulrike W. Figiel, Jens Hess, Timo Slater, Emily P. Bartsch, Detlef K. Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title | Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title_full | Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title_fullStr | Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title_full_unstemmed | Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title_short | Characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
title_sort | characteristics of familial pancreatic cancer families with additional colorectal carcinoma |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10276072/ https://www.ncbi.nlm.nih.gov/pubmed/36717525 http://dx.doi.org/10.1007/s10689-023-00328-1 |
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