The clinical laboratory assay has been hardened so that robust results are obtained on formalin fixed paraffin embedded (FFPE) pathology tissue with BRCA1 and BRCA2
exon sequences and genome wide quantitative SNP data generated by next generation sequencing.
Although mostly associated with women's cancers, defective BRCA2
can raise a man's lifetime risk of prostate cancer by up to 25%.
For example, sequencing of transcripts identified by Qiaxcel analysis of BRCA2
The scientists analysed BRCA2
in blood samples of almost 2,000 prostate cancer patients to achieve their results.
Patient 2 had a BRCA2
mutation after he was diagnosed with invasive ductal carcinoma of the breast at age 58.
BSO was associated with a significantly decreased risk of breast cancer in those without prior breast cancer with both BRCAI (37% reduction) and BRCA2
mutations (64% reduction).
The same process involving BRCA2
can lead to hereditary breast cancer in
Worldwide many families with a strong history of familial breast cancer have been fully screened for BRCA1 and BRCA2
mutations but none were found.
For the majority of families who do not harbour BRCA1 or BRCA2
mutations, it is considered likely that a number of genetic factors, each with a small cumulative contribution, are responsible.
Five to 10 per cent of breast cancer patients have an inheritable form of breast cancer due to a mutation in BRCA1 or BRCA2
The researchers studied tumor cells containing a faulty version of the breast cancer gene BRCA2
The mother of two carries a fault in the BRCA2
gene and could benefit from the ground-breaking research in the future.