October is Breast Cancer Awareness Month and Gaucher Disease Awareness Month. And while these diseases do not have much (if anything) in common, they’re both near and dear to our hearts here at the Sarnoff Center. Hereditary breast cancer and Gaucher disease each have a Jewish connection, occurring more frequently among Ashkenazi Jews than in the general population.
While a relatively small percentage of breast cancer is hereditary, inherited mutations have a major impact on affected families. BRCA mutations – which are the most common cause of hereditary breast cancer – significantly increase lifetime risk of breast cancer in both men and women. BRCA mutations are also linked to increased risk of ovarian cancer, prostate cancer, pancreatic cancer, and melanoma. 1 in 40 Ashkenazi Jews carries a BRCA mutation compared to about 1 in 400 in the general population.
What can you do? Learn your family health history and share it with your doctor. A physician or genetic counselor can use that information to help you better understand your risk and, if necessary, explain options for reducing it.
Like BRCA mutations, Gaucher disease is also increased among Jews. In fact, Gaucher disease type 1 is the most common inherited Jewish genetic disorder, according to the National Gaucher Foundation. Unlike hereditary cancers, Gaucher disease is inherited in an autosomal recessive fashion. As with other recessive conditions, carriers of Gaucher disease do not have symptoms and both partners in a couple must be carriers in order for there to be a risk of having an affected child.
Individuals affected with Gaucher disease lack an enzyme that helps break down certain fatty substances in the body, which can cause complications related to the liver, spleen, blood, and bones. While there currently is no cure for Gaucher, treatment can help manage symptoms and improve quality of life.
As October comes to a close, take the time to educate yourself about hereditary breast cancer and Gaucher disease and learn about the resources available in our community. You can find tools to collect your family health history and information about cancer risk factors on our website. For more information about Gaucher, visit gaucherdisease.org. Couples planning for a family can learn their carrier status by completing the Sarnoff Center’s subsidized genetic counseling and screening program, which currently screens more than 190 recessive disorders.