Ironwood Cancer & Research Centers explains Hereditary Breast and Ovarian Cancer Syndrome

Posted at 7:40 AM, Oct 27, 2017
and last updated 2017-10-27 14:10:06-04

Ironwood Cancer & Research Centers is a paid advertiser of Sonoran Living.

90% of breast cancers are sporadic, meaning not caused by an inherited mutation.  Only 5-10% of the breast cancers are due to a pathogenic mutation in a person's DNA.  If there is a strong family history of cancers, it is important to know if one has a pathogenic mutation that could be responsible for the cancers because it alters the treatment choices one might make.  Of the 10% hereditary breast cancers, fully 60% are caused by the Hereditary Breast and Ovarian Cancer (HBOC) Syndrome genes, most often mutations in the BRCA1 and BRCA2 genes. Mutations in these genes have a high risk of being manifested (up to an 85% chance of getting breast cancer in her lifetime) and can be passed onto 50% of the patients' offspring.  

Patients with these mutations have an increased risk of developing ovarian cancer, pancreatic cancer, melanomas, as well as prostate cancer in males. The other 4% mutations are those that confer an increased risk of breast cancer and other cancers such as uterine, colon, thyroid, brain, lymphomas, sarcomas, leukemias, stomach cancers, etc.

When pathogenic mutations are detected after a diagnosis of breast cancer, patients need to know that the risk of a second breast cancer is upwards of 30%. Hence, risk reducing mastectomies with reconstruction are the most effective form of treatment and prevention.

As in breast cancer, most women who develop ovarian cancer, do not have a family history.  The most common genetic/hereditary cancer syndrome that predisposes women to ovarian cancer is also the HBOC Syndrome; it is associated with early onset ovarian cancer.  In women at high risk for ovarian cancer, prophylactic removal of tubes and ovaries significantly reduces the risk of developing these cancers.  Prevention is so important.  Gynecologic Oncologists care for too many patients with cancer syndromes who were ultimately diagnosed with preventable cancers. 

We do not have screening tests sensitive enough to screen the general population for ovarian cancer, but screening is often offered to patients with genetic predisposition to ovarian cancers.  Regardless, all women should pay attention to their bodies.  If you have new/frequent/persistent/worsening bloating, difficulty eating or feeling full fast, and/or changes in bowel or bladder function, see your health care provider.  Be persistent, until symptoms resolve or you have a diagnosis that explains how you are feeling.

For both breast and ovarian cancers, risk management for patients that test positive for pathogenic mutations involves: 1. High Risk Screening with clinical exams, 2. Risk reducing surgeries, and 3. Chemoprevention. 

What do we need to know about genetic testing?
Genetic testing has evolved rapidly over the years. Because of this, genetic testing should not be viewed as a one and done kind of test. If you had genetic testing in the past that included just the BRCA1/2 genes, you should speak to your physician about updating your testing to a comprehensive multi-gene panel that analyzes genes associated with a variety of hereditary cancer predisposition syndromes. It is also important to recognize the family implications that genetic testing entails. Most of these cancer predispositions are inherited in an autosomal-dominant pattern. This means that an individual with a pathogenic (harmful) genetic mutation has a 50% chance of passing the predisposition on to their offspring. Once a pathogenic mutation is detected in an individual, it is possible to identify at-risk relatives who can pursue testing for this specific familial gene mutation, with the ultimate goal of detecting cancer early or preventing it all-together. 

Treatment for HBOC patients should involve a medical team including a breast surgeon, a gynecologist/gynecologic oncologist and a genetic counselor.

Ironwood Cancer & Research Centers
9 Valley Locations
(480) 821-2838

Ironwood Cancer & Research Centers is a paid advertiser of Sonoran Living.