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
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
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.