Cited by 278Pancreatic and Hepatic Oncology ResearchGenetic factors in colorectal cancerBRCA gene mutations in cancer

The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.

PALB2 mutations in European familial pancreatic cancer families

Slater, EP, Langer, P, Niemczyk, E, Strauch, K, Butler, J, Habbe, N, Neoptolemos, JP, Greenhalf, W, Bartsch, DK·2010·Clinical Genetics

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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Crossref · 10.1111/j.1399-0004.2010.01425.x

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Research works printed but not linked: 1

  1. Strauch K., 2003, Parametric linkage analysis with automatic optimization of the disease model parameters, Am J Hum Genet, 73, A2624

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Metadata

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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