Question

A young woman in a suspected breast cancer family takes the BRCA1 and BRCA2 genetic tests. As a genetics counselor, you are asked to meet with her.

Prior to receiving the results she want to meet with you to see if you can give her more information as to what are the different cancer types she is at higher risk for if in fact she test positive for a BRCA-1 or BRCA-2 mutation? What would these be?

Answer 1

Most cancers including most breast and ovarian cancers are sporadic these are isolated cases of cancer and do not increase the risk for other people in the family.Hereditary cancer are rare but in these families some people will have much higher chance of getting cancer and should take different steps for mointioring and prevention.Families with herditary cancer will see certain things like cancer happeing at young age,multiple people in the family who had cancer,same or related type of cancer.Genetic testing is the another useful tool.This test focuses on tumor suppressor genes.These are protective genes but some people have mutation in one of these genes.The suppressor genes in breast and ovarain cancer in women are BRCA1 and BRCA2.There are some other cancers associated with BRCA1 and BRCA2 are prostate cancer and breat cancer in male and pancreatic cancer, melanoma but risk of these cancers are not as high.

Women with BRCA1 and BRCA2 mutations are recommended for increased monitoring with breast exams,mammogram and breast MRI starting at young age.Monitoring helps to detect at early stages and improve the outcomes from breast cancer.Preventing breast cancer with medication which includes tamoxifen which lowers the breast cancer risk by 50%.Breast surgery can lowers risk by 90%.

For ovarian cancer for early detection ultrasounds of the ovaries and CA 125 blood test are recommended.For preventing ovarian cancer some medications such as birth control pills which lowers the risk of ovarian cancer by 50%.Women who are no longer planning on having children are advised to remove their ovaries and fallopian tubes removed which reduces the risk of ovarian cancer by 90%.

If she test positive for a BRCA1 and BRCA2 then as a genetic counselor and her doctors can look at the above different possibilites taking into account what is important to her for prevention and early detection.