No mutations in SAFB1 and SAFB2 genes in familial breast cancer
Author Information
Author(s): Bergman Annika, Abel Frida, Behboudi Afrouz, Yhr Maria, Mattsson Jan, Svensson Jan H, Karlsson Per, Nordling Margareta
Primary Institution: Sahlgrenska Academy, Gothenburg, Sweden
Hypothesis
Are SAFB1 and SAFB2 genes involved in familial breast cancer through inherited mutations?
Conclusion
SAFB1 and SAFB2 are not likely to be causative of hereditary breast cancer in west Swedish families.
Supporting Evidence
- No missense or frameshift mutations were detected in the analyzed DNA samples.
- One polymorphism was found in SAFB1 and eight in SAFB2.
- Both alleles of SAFB1 and SAFB2 were preserved, indicating no large deletions.
Takeaway
The study looked at two genes thought to be linked to breast cancer but found no harmful mutations in them.
Methodology
DNA sequencing and MLPA analysis were used to investigate mutations in SAFB1 and SAFB2 genes in affected women.
Limitations
The study only analyzed the coding sequences and did not investigate other potential genetic alterations.
Participant Demographics
Affected women from 14 families with multiple cases of breast cancer.
Digital Object Identifier (DOI)
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