It’s difficult enough to confront a diagnosis of breast or ovarian cancer without also learning that the malignancies are triggered by your genes. But women who face this type of double jeopardy – or discover they’re at greater inherited risk, though not ill – receive more than sound medical advice at Saint Barnabas, where a dedicated genetic counselor and other staff members guide patients through a careful diagnostic process that also lays out their many options for treatment.
Emotional concerns weigh heavily on women diagnosed with BRCA1 and BRCA2 mutations – which place them at much higher risk of developing breast or ovarian cancer – as well as those with an inherited syndrome upping the odds for colon and uterine malignancies. Yet even in the midst of wading through the physical and mental ramifications, science is still uncovering who may be affected.
“It’s interesting – you’ll see patients you’re sure have the gene, because every woman in their family had breast cancer, but they come up negative,” says M. Michele Blackwood, MD, director of breast health and disease management. “But genes account for only between 5% and 10% of breast cancers we see. There’s so much more we need to learn about this – I think we’re at the tip of the iceberg with all of it.”
A simple blood test or saliva sample can discern who has an inherited gene mutation linked to higher cancer risk. But despite the greater odds – 60% of those with BRCA mutations will develop breast cancer, for example, while up to 44% will get ovarian cancer – biology doesn’t always equal destiny.
Indeed, quite a few women counseled at Saint Barnabas are BRCA-positive but have no sign of disease, Dr. Blackwood says. For them, as well as those diagnosed with cancer, their options are extensive.
Some women with BRCA mutations but no cancer are counseled to pre-emptively have their breasts and ovaries removed, with the latter surgery reserved for those who have completed childbearing. Also, a bilateral mastectomy is often advised for young women with genetic breast cancer in one breast – since their chances of developing a malignancy in the remaining breast over the following five years is relatively high – though some opt for continued, rigorous screening.
But newer research indicates that removing just the ovaries – whose estrogen production can fuel some cancers – may be sufficient to help prevent breast cancer in certain women with BRCA mutations. This approach that can be combined with other preventive measures includes taking birth control pills, which cuts ovarian cancer risk, or tamoxifen, which can block estrogen.
And some measures focus on preserving fertility while aggressively stopping cancer from developing, says Thad Denehy, MD, associate director of the Division of Gynecologic Oncology & Reconstructive Pelvic Surgery.
“Some women are harvesting their eggs and freezing them,” Dr. Denehy says.“ For years, they could only freeze embryos, but now we’re seeing women with no partners who want to decrease their risk of ovarian cancer, so they bank their eggs and have their ovaries removed. It’s an option that didn’t exist a few years ago.”
While much of counseling focuses on medical aspects such as risk odds and preventive measures, a good chunk is devoted to talking about who should be told about family risks and what they really mean, Ms. Roberts says. It’s her job to discuss risk factors for cancer, the genetic testing process, and available risk-reduction options with patients who are found to test positive for a BRCA gene.
“In the genetic counseling process, there is a lot of decision-making,” she says. “I try to be non-directive – it’s the patient’s decision whether or not to proceed with genetic testing, as some patients would rather not know this information.”
Mining the Family Tree
Beyond that, doctors are finding one advantage to BRCA triggered breast cancers, which are more sensitive to the effects of chemotherapy, Dr. Denehy says. While the presence of genetic mutations doesn’t dictate that more aggressive cases will result, certain treatments can “exploit” the gene defect, leading to higher survival rates.
“The good news is, BRCA-associated ovarian cancers seem to respond better to chemo and get an even better response, more than regular chemo,” he says.
Dr. Denehy advises patients to probe their family’s health history, learning as much as possible about cancers that struck prior generations. Because people in earlier eras were much less likely to talk about their maladies, they might have called ovarian cancer “stomach cancer,” for example, unintentionally misleading future family members. “Be very aware of your family tree. You have to be very attuned to your family history.”
Known Risk Factors
About 70% of cancer occurrences are sporadic, while 15% to 20% are found in family clusters (though not linked to a gene), and the final 10% are inherited cancers caused by a gene, says Saint Barnabas genetic counselor Melanie Roberts. Who is tested for hereditary forms of breast cancer?
- Women diagnosed before age 50
- Those with three or more cases of breast cancer within an extended family
- Any woman diagnosed with ovarian cancer
- Women of Ashkenazi Jewish ancestry who have breast or ovarian cancer
- Males of any age diagnosed with breast cancer
- Those diagnosed with 2 or more types of primary (independent) cancers or a rare cancer
To learn more, please call the Cancer Genetic Counseling and Inherited Risk Evaluation Program at 973-322-2822 or the Center for Breast Health and Disease Management at 973-322-7020.
Cancer Genetic Counseling and Inherited Risk Evaluation Program
Center for Breast Health and Disease Management
Date: May 15, 2013
Contact: Samantha Anton
Assistant Director, Marketing/Public Relations