Genetic counseling offers lifesaving widsom

Laurie Mischo

Joy resonates through the voice of Laurie Mischo. The 58-year-old Syosset resident is excited about her upcoming trip to Carmel, California, where she will be celebrating the marriage of her eldest son.

As she speaks, she is savoring each word, recalling a darker time in her life with surprising ease and wisdom. It’s been nearly nine years since Ms. Mischo was diagnosed with ovarian cancer.

“Running a home, raising kids, going to work. In those days, it seemed easier to put off taking care of myself,” said Ms. Mischo. “Women think they have to be everything and take care of everyone and basically be a superhero.”

Whether it was good sense or good fortune is unclear. Ms. Mischo remembered the advice her gynecologist, David Rothbaum, MD, shared during one of her past annual visits: If her menstrual cycle was ever 21 days or less, she should call him immediately. It was just 16 days since her last period so she made the call.

“That’s why we caught my cancer so early,” said Ms. Mischo. ”Since I was only 50 and had no other apparent risk factors for ovarian cancer, my gynecologist urged me to undergo genetic testing and referred me to Sharona Cohen.”

Right to counsel

Heeding her doctor’s advice, Ms. Mischo met with Sharona Cohen, a genetic counselor in the Cancer Genetics Program at the North Shore-LIJ Cancer Institute, who thoroughly outlined the benefits, risks and limitations of genetic testing before drawing her blood. In November 2005, after undergoing her tests, Ms. Mischo learned that she tested positive for a BRCA gene mutation.

An estimated 0.1 to 0.2 percent of the general population carries either a BRCA 1 or 2 gene mutation. Among Ashkenazi Jewish individuals, the frequency of BRCA mutations is one in 40. A woman’s risk of developing breast and/or ovarian cancer is greatly increased if she inherits one of these mutations. If and when these mutations are found through testing, several options are available to help manage cancer risk.

”Most patients come with misconceptions regarding what testing is all about,” said Ms. Cohen. ”They may think if they test positive for a mutation, it’s a definitive cancer diagnosis. Some wonder what the point of testing is if there is nothing you can do about it. A host of feelings can surface when a patient receives test results. In addition to addressing the medical and genetic aspects of genetic testing, we also address emotions and other concerns.”

Formidable odds

About 12 percent of women in the United States will develop breast cancer sometime during their lives, according to the National Cancer Institute. While only five to 10 percent of all breast cancer cases are thought to be hereditary, about 45 to 85 percent of women who inherit a BRCA mutation will develop breast cancer by age 70. An estimated 11 to 60 percent will develop ovarian cancer. These were odds Laurie Mischo would not gamble with.

“I knew that if I was BRCA positive, I would be facing a double mastectomy,” said Ms. Mischo. “For me, it was never a question of whether I was going to have the operation, it was a question of when. Still, a couple of years after completing chemotherapy, I sought Sharona Cohen’s advice again. I had already chosen my plastic surgeon and breast surgeon for my breast reconstruction. I wanted her to validate my choices and see if she knew of any recent breakthroughs I hadn’t considered. She is so incredibly knowledgeable and makes you feel like you are the most important person in her world. She’s just amazing.”

Based at the Monter Cancer Center, the Cancer Genetics Program offers testing for patients at increased risk for hereditary cancer syndromes. The main indication for genetic testing is a personal and family history of cancer or of a known mutation, such as BRCA. Other red flags for genetic testing include early age (under 50) at cancer diagnosis, breast cancer in at least two or more close relatives, and individuals who are of Ashkenazi Jewish decent and have personal and/or family history of breast and/or ovarian cancers. Testing for BRCA mutations is just one of several genetic tests offered through the Cancer Genetics Program.

“Though most of the patients we see seek testing for the BRCA mutations, additional cancer-causing genes have been identified and associated with increased risk of hereditary breast cancer,” said Ms. Cohen. ”This is an incredibly exciting time in genetics. With recent advances in technology, we can now test for a panel of genes simultaneously. Analyzing multiple genes at the same time helps to further clarify the risks for patients and their relatives.”

The more we know…

How a condition is inherited can influence risk and the impact of the condition on the family. BRCA mutations have a dominant mode of inheritance, which means that the mutations can be inherited from either your mother or your father and that having a mutation on one copy of the causative gene is sufficient to develop the condition or trait. If a person has a known mutation, first-degree relatives (parents, siblings and children) have a 50/50 chance of carrying the familial mutation. It is possible for a BRCA carrier to have a child without a mutation. Ms. Mischo’s eldest son is currently waiting for the results of his genetic tests; her 23-yearold daughter tested negative for the mutation.

“If a woman is diagnosed with breast cancer and tests positive for BRCA mutation, she is also at increased risk for a second primary breast cancer and ovarian cancer,” said Ms. Cohen. “If a man tests BRCA positive, he is at greater risk for prostate and male breast cancer.” All of this information can be used for personal and family medical management — hopefully to prevent cancer or to detect it early enough for successful treatment, she added. In fact, knowing whether a cancer patient is BRCA-positive can even inform the type of medicine a doctor chooses to treat the cancer, since certain treatments are proven to be more effective than others in BRCA-positive patients.

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