Founder BRCA2 Mutation in Sardinia
Author Information
Author(s): Pisano M, Cossu A, Persico I, Palmieri G, Angius A, Casu G, Palomba G, Sarobba M G, Rocca P C Ossu, Dedola M F, Olmeo N, Pasca A, Budroni M, Marras V, Pisano A, Farris A, Massarelli G, Pirastu M, Tanda Francesco
Primary Institution: Istituto di Genetica Molecolare, CNR
Hypothesis
Can the identity-by-descent method help identify mutations in breast cancer families in Sardinia?
Conclusion
A founder BRCA2 mutation was identified in Sardinian breast cancer families, suggesting the effectiveness of the identity-by-descent method in mutation discovery.
Supporting Evidence
- Four out of seven families shared a common haplotype, indicating a potential founder mutation.
- A specific 'frame-shift' mutation at codon 2867 was identified in patients with the shared haplotype.
- The mutation was found in breast cancer patients as well as one prostate and one bladder cancer patient.
- 1.7% of breast cancer patients tested positive for the 8765delAG mutation.
Takeaway
Scientists found a specific gene change that can cause breast cancer in some families from Sardinia, showing a way to find similar changes in other cancers.
Methodology
Genotyping of 106 members from seven Sardinian breast cancer families and 20 control families, followed by direct sequencing of BRCA2 coding exons.
Limitations
The study focused only on a specific population and may not be generalizable to other groups.
Participant Demographics
Sardinian breast cancer families with multiple affected members across generations.
Digital Object Identifier (DOI)
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