Genetic Counseling

Genetic testing can provide useful information to people who have already been diagnosed with cancer as well as to those who are currently healthy.

Mutations in the BRCA1 and BRCA2 genes are linked to the development of breast cancer, ovarian cancer and other types of cancer. These two genes, which we all carry, play a role in making sure cells grow at the proper rate.

When there is a change or a mutation in BRCA1 or BRCA2, those genes don't work properly, and that's where we see an increased risk for developing cancer. These mutations can be passed down in families. Inherited susceptibility (which includes BRCA1 and BRCA2 and other genes) are responsible for about 5% to 10% of breast cancers and 20% of ovarian cancers.

In addition to BRCA1 and BRCA2, there are other identified genes, such as PALB2, CHEK2, PTEN, CDH1, TP53, STK11, BARD1, BRIP1, RAD51C, RAD51D and ATM genes that may be tested for to better assess cancer risk for an individual and their family.

Genetic testing and counseling services can determine whether a person carries mutations in these genes and, if they do, how the information could help inform cancer prevention or treatment decisions.

Even if you’ve been diagnosed with breast cancer, genetic testing may still be helpful.

Genetic testing can be useful not only to inform the family about potential cancer risks, but it also can drive treatment decisions. Genetic testing results may help patients make surgical decisions and they may help doctors determine the best medical therapy for a tumor. This is because BRCA1, BRCA2, and PALB2-related cancers tend to respond to medications called PARP inhibitors.

The guidelines for offering genetic testing for inherited susceptibility to cancer have expanded. Some individuals who now qualify for genetic testing for inherited susceptibility to cancer include: any individual who has a metastatic cancer breast cancer, ovarian cancer, pancreas cancer, metastatic breast cancer, individuals with triple negative breast cancer diagnosed at any age, any breast cancer diagnosis under age 45, and those patients with a family history suggestive of a genetic mutation.

If someone who has a cancer diagnosis is identified to carry a mutation in a gene, other family members are then specifically tested for that gene mutation. This helps identify conclusively who is at risk. Finding family members who don’t carry a mutation is as important as finding those who do.

Men who carry a BRCA1 or BRCA2 gene mutation are at increased risk for prostate cancer, and these can be more aggressive and develop at younger ages. Men with a BRCA mutation are recommended to undergo increased prostate cancer screening starting about age 40-45, including prostate-specific antigen (PSA) testing and a digital rectal exam yearly.

Getting Risk Assessment

The Breast and Ovarian Risk Evaluation Program, led by Dr. Sofia Merajver, provides individuals with an accurate assessment of their personal risk for developing breast cancer or ovarian cancer and offers a plan for follow-up and preventive care. Appointments can be made by calling 734-647-8902 option 1.