Common Ancestry in BRCA2 Mutation Carriers in French Canadians
Author Information
Author(s): Oros Kathleen K, Leblanc Guy, Arcand Suzanna L, Shen Zhen, Perret Chantal, Mes-Masson Anne-Marie, Foulkes William D, Ghadirian Parviz, Provencher Diane, Tonin Patricia N
Primary Institution: McGill University
Hypothesis
Do carriers of the BRCA2 mutation 3398delAAAAG share a common ancestry in the French Canadian population?
Conclusion
The study suggests that mutation carriers share a related ancestry, indicating that recurrent BRCA mutations in the French Canadian population may be due to common founders.
Supporting Evidence
- The BRCA2 mutation 3398delAAAAG was found in 1.7% of women diagnosed with breast cancer before age 41.
- The mutation was also found in 1.3% of women with ovarian cancer.
- Haplotype analysis indicated that mutation carriers share a common ancestry.
Takeaway
Some people in Quebec have a specific gene change that can lead to breast and ovarian cancer, and many of them might be related because they share a common ancestor.
Methodology
The study analyzed the frequency of the BRCA2 mutation in breast and ovarian cancer cases and performed haplotype analysis using microsatellite markers.
Limitations
The study was limited by the availability of family members for haplotype analysis and the inability to phase all genotypes.
Participant Demographics
Participants were women of French Canadian descent diagnosed with breast or ovarian cancer.
Digital Object Identifier (DOI)
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