Genetic Study of Male Breast Cancer Families in Italy
Author Information
Author(s): GianMaria Miolo, Lara Della Puppa, Manuela Santarosa, Clelia De Giacomi, Andrea Veronesi, Ettore Bidoli, Maria Grazia Tibiletti, Alessandra Viel, Riccardo Dolcetti
Primary Institution: Centro di Riferimento Oncologico, National Cancer Institute, Aviano, Italy
Hypothesis
What are the genetic and phenotypic features of male breast cancer families in North-East Italy?
Conclusion
Two recurrent BRCA2 mutations were identified in male breast cancer cases from North-East Italy, suggesting a possible founder effect.
Supporting Evidence
- Two pathogenic mutations in the BRCA2 gene were observed: the 9106C>T and the IVS16-2A>G mutations.
- In families with BRCA2 mutations, female breast cancer was more frequent in first and second-degree relatives compared to families without these mutations.
- The study supports the possibility of a founder effect for the identified BRCA2 mutations in the North-East of Italy.
Takeaway
This study looked at families with male breast cancer and found two common gene changes that might make them more likely to get the disease.
Methodology
Genetic counseling and BRCA1/2 testing were performed on 10 male breast cancer patients and their families.
Limitations
The study was conducted on a limited number of families, which may not represent the broader population.
Participant Demographics
The study included 10 male breast cancer patients from North-East Italy.
Statistical Information
P-Value
0.001
Confidence Interval
95% CI 1.81–16.34
Statistical Significance
p = 0.001
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website