Human Genetic Mutations Testing

By: - Breast Cancer - September 21, 2011
brca1 and brca2 human genetic mutations testing

Within the human population many different types of mutations of the brca1 and brca2 are present, though the majority are extremely rare, even having no real association with a cancer risk.  However, the brca gene testing detects and common genetic mutations, those especially associated with ovarian and breast cancers.  Interestingly, certain ethinicities are more prone to having these genes, and if such a family presence is detected, mutation testing for entire families is essential.

Less than one percent of the American population are carriers of the brca1 and brca2 genetic mutations.  As a result, the brca gene testing is not advised for entire populations, but it is a good option for women with female or male relatives diagnosed with ovarian or breast cancers.  This applies even more so with the appearance of the cancer prior to a relatives fiftieth birthday.  In addition, special counseling needs to be addressed after the genes have been addressed in other family members to guide to be tested members about the genetics of cancer and how the testing process works.

Brca1 and brca2 positive results are hard for any person to deal with.  After the results come back from the brca gene testing, all interpretations need to be addressed in relation to the individual’s family and personal history.  Using a trained health care genetic counselor or professional, the results should be explained and options for treatments discussed.  This is to help reduce risks.  However, negative results by no means alludes to the fact that a female will never develop ovarian or breast cancers.  It merely shows that the hereditary risks have been eliminated.  Most important to keep in mind is that the majority of cancers of the breast are not mutation related.  Additionally, the average person has a twelve percent risk associated within a lifetime of breast cancer development and an even lesser risk, one point four percent, of being at risk of ovarian cancer.  The best part is that as you get older, the risks decrease.  Just remember that with positive results, sharing with other members of your family may not be easy and this is why getting counseling is vital.

Photo: cancer cell mutation – public domain image –