qCancer® Risk BRCAs. Analysis of genes BRCA1 and BRCA2

By means of qCancer BRCAs it is possible to detect point mutations in exons, in deep intron regions (up to 45bp) and in untranslated regulatory regions of genes associated with breast cancer, as well as some structural variants.

qCancer BRCAs is an NGS analysis that simultaneously analyzes the two main genes associated with the risk of hereditary breast and ovarian cancer. Breast cancer is the most frequent tumor in women. In Spain, 25,000 new cases of breast cancer and 3,300 cases of ovarian cancer are diagnosed each year. Most of these cases are sporadic but 10% are hereditary. Breast cancer of hereditary predisposition tends to occur at younger ages. The genes of high penetrance BRCA1 and BRCA2 are responsible for 50% of cases of hereditary cáncer2-4.

Mutations in these high penetrance genes increase the risk of breast, ovarian, fallopian tube and, to a lesser extent, pancreatic and prostate cancers. Women carrying mutations in the BRCA1 and / or BRCA2 genes have a 58-87% risk of developing breast cancer throughout their lives, and a risk of up to 40% of developing ovarian cancer5-11. Men carrying mutations in these genes have an accumulated risk of up to 7% of developing breast cancer and 15% of developing prostate cancer12-13.

qCancer®: medicina del futuro

The qCancer panels are qGenomics’ committment to predictive and personalized medicine. Thanks to the use of NGS technology we are able to diagnose hereditary predispositions for developping tumors much more efficiently than before. Indentifying individuals who have a higher risk of developing neoplasms is an approach to the medicine of the future, where we will diagnose cáncer in earlier stages or even avoid its manifestation. The knowledge of the carrier status of a mutation that predisposes to develop certain neoplasms translates into benefits at different levels: medical controls adjusted to the risk of each individual, possibility of taking measures that allow us to prevent the onset of cancer and, in the case of affected individuals, a potential therapeutic benefit.

qGenomics offers the study of groups of genes associated with cancer based on the needs of specialists and their patients. These genes are analyzed by NGS techniques in combination with classical approaches of molecular genetics, when necessary.

GeneDiseaseAssociated Phenotype description and OMIM disease ID
BRCA1Breast-ovarian familial cancer, suspectibility to, 1604370
BRCA2Breast-ovarian familial cancer, suspectibility to, 2612555

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