Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2007-12

AUTHORS

William D Foulkes, Parviz Ghadirian, Mohammed Reza Akbari, Nancy Hamel, Sylvie Giroux, Nelly Sabbaghian, Andrew Darnel, Robert Royer, Aletta Poll, Eve Fafard, André Robidoux, Ginette Martin, Tarek A Bismar, Marc Tischkowitz, Francois Rousseau, Steven A Narod

ABSTRACT

BACKGROUND: PALB2 has recently been identified as a breast cancer susceptibility gene. PALB2 mutations are rare causes of hereditary breast cancer but may be important in countries such as Finland where a founder mutation is present. We sought to estimate the contribution of PALB2 mutations to the burden of breast cancer in French Canadians from Quebec. METHODS: We screened all coding exons of PALB2 in a sample of 50 French-Canadian women diagnosed with either early-onset breast cancer or familial breast cancer at a single Montreal hospital. The genetic variants identified in this sample were then studied in 356 additional women with breast cancer diagnosed before age 50 and in 6,448 newborn controls. RESULTS: We identified a single protein-truncating mutation in PALB2 (c.2323 C>T, resulting in Q775X) in 1 of the 50 high-risk women. This variant was present in 2 of 356 breast cancer cases and in none of 6,440 newborn French-Canadian controls (P = 0.003). We also identified two novel new non-synonymous single nucleotide polymorphisms in exon 4 of PALB2 (c.5038 A>G [I76V] and c.5156 G>T [G115V]). G115V was found in 1 of 356 cases and in 15 of 6,442 controls (P = 0.6). The I76V variant was not identified in either the extended case series or the controls. CONCLUSION: We have identified a novel truncating mutation in PALB2. The mutation was found in approximately 0.5% of unselected French-Canadian women with early-onset breast cancer and appears to have a single origin. Although mutations are infrequent, PALB2 can be added to the list of breast cancer susceptibility genes for which founder mutations have been identified in the French-Canadian population. More... »

PAGES

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Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/bcr1828

DOI

http://dx.doi.org/10.1186/bcr1828

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038191449

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18053174


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