PALB2 mutations in European familial pancreatic cancer families
Abstract
Recently, PALB2 was reported to be a new pancreatic cancer susceptibility gene as determined by exomic sequencing, as truncating PALB2 mutations were identified in 3 of 96 American patients with familial pancreatic cancer (FPC). Representing the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC) and the German National Case Collection for Familial Pancreatic Cancer (FaPaCa), we evaluated whether truncating mutations could also be detected in European FPC families. We have directly sequenced the 13 exons of the PALB2 gene in affected index patients of 81 FPC families. An index patient was defined as the first medically identified patient, stimulating investigation of other members of the family to discover a possible genetic factor. None of these patients carried a BRCA2 mutation. We identified three (3.7%) truncating PALB2 mutations, each producing different stop codons: R414X, 508-9delAG and 3116delA. Interestingly, each of these three families also had a history of breast cancer. Therefore, PALB2 mutations might be causative for FPC in a small subset of European families, especially in those with an additional occurrence of breast cancer.
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Germline mutations in specific genes are associated with developing pancreatic ductal adenocarcinoma.
“germline mutations in specific genes are associated with developing the condition.26–28”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
When the causative mutation is known, it segregates with pancreatic ductal adenocarcinoma.
“When the causative mutation is known,26 it segregates with the disease.”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
Germline mutations in specific genes are associated with developing pancreatic ductal adenocarcinoma.
“germline mutations in specific genes are associated with developing the condition.26–28”
From Early detection of pancreatic cancer (2020) · cites this paper as [27]
Families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.
“families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.26,27,29,30”
From Early detection of pancreatic cancer (2020) · cites this paper as [26]
Families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.
“families with a strong history of pancreatic ductal adenocarcinoma mostly do not have mutations in the genes known to be associated with the disease.26,27,29,30”
From Early detection of pancreatic cancer (2020) · cites this paper as [27]
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- Authors
- Slater, E., Langer, P., Niemczyk, E., Strauch, K., Butler, J., Habbe, N., Neoptolemos, J., Greenhalf, W., & Bartsch, D.
- Affiliations
- Philipps University of Marburg (DE)
- University of Liverpool (GB)
- Corresponding author
- Slater, EP
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2010-03-18
- Volume
- 78
- Issue
- 5
- Pages
- 490-494
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2112123361
- Cited by
- 278
- References
- 16
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 4 · 2023: 8 · 2022: 52 · 2021: 18 · 2020: 18 · 2019: 15 · 2018: 13 · 2017: 16 · 2016: 24 · 2015: 21 · 2014: 24 · 2013: 15 · 2012: 19
- FWCI
- 9.16
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Cancer Research UK
- National Institute for Health and Care Research
- European Commission
- Deutsche Krebshilfe
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- PALB2, familial pancreatic cancer, truncating mutations, hereditary breast cancer, European family
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Adult, Breast Neoplasms, Female, Humans, Male, Middle Aged, Nuclear Proteins, Pancreatic Neoplasms, Germ-Line Mutation, Tumor Suppressor Proteins, White People
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