brac2

what is a brac2 sequencing 7172del4 deleterious mean?

[Jordanna Joaquina, MS, CGC]

There are some minor inconsistencies in the ways different labs report mutations. As such, we cannot say for sure without seeing the results. However, this nonmenclature may indicate a deletion of 4 bases (the building blocks of DNA) beginning at the 7172th base from the start of the BRCA2 gene.

The BRCA2 gene is one of the genes associated with hereditary breast and ovarian cancer syndrome. We recommend a session with a genetic professional, who can review and explain the results and  discuss possible clinical implications. A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA. Hope this information helps.

[jammiejill]

A related discussion, Ovarian MMT and BRCA2 was started.