Says women with certain risks factors should get tested.
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Dr. Steven Schonholz in his offices at Noble Hospital in Westfield.
Editor's note: This interview with Dr. Steven Schonholz of Noble Hospital in Westfield was done by Judith Kelliher for the special breast cancer awareness section published in The Republican on Oct. 10, 2012. Hollywood actress Angelina Jolie, 37, revealed in a New York Times op-ed piece published May 14 that she had a double mastectomy earlier this year after learning she tested positive for the BRCA1 gene. This gene mutation increases a person's risk for breast. Her mother died of breast cancer.
In response to Jolie's disclosure Schonholz said he is seeing "a new generation of women taking more interest in what type of family history they have." The genetic mutation for breast cancer can be inherited from either the paternal or maternal side of the family, Schonholz said. He added women who have the BRCA1 or BRCA2 gene mutation also puts a woman at risk for ovarian cancer and some women opt to have removal of their tubes and ovaries.
Women with the mutation, Schonholz said may opt for regular screening or risk reduction surgery, meaning a bilateral mastectomy, with or without reconstructive surgery. He said reconstruction is not considered cosmetic, and is covered by insurance.
He speculated that Jolie may have known her risk for awhile as the risk of developing breast cancer in those with the BRCA mutation increases with age, and is 87 percent at age 70. Having a double mastectomy because of the mutation reduces the risk of developing breast cancer significantly. The earlier interview with Schonholz follows. - Anne-Gerard Flynn
Dr. Steven Schonholz is a breast surgeon at Noble Hospital in Westfield and director of its comprehensive breast program. He has a special interest in identifying patients with a high risk of breast cancer, whether by family history or genetic testing, which allows him to introduce new screening techniques to identify cancers earlier or even perform surgery for risk reduction.
The Burk Women's Imaging Center at Noble Hospital uses a special form Schonholz created to identify those patients who may benefit from risk assessment or genetic testing. The risk assessment and/or genetic testing would be done during the patient's consultation.
How long has genetic testing for detecting breast cancer been in practice?
Genetic testing for the BRCA mutation, which identifies specific mutations associated with breast and ovarian cancer, has been available since 1996. Specific guidelines (from the National Comprehensive Cancer Network) for physicians came into place in 2005.
Does the test determine if a person has breast cancer or only the likelihood of getting it?
The test results if a mutation is identified can give the person the risk for breast and ovarian cancer at certain ages. For example, the risk of breast cancer in the normal population (a person without the mutation and no increased risk) may be 7 percent by the age of 70.
In some women with the mutation, cancer risk can be as high as 50 percent by the age of 50, and 87 percent by the age of 70. While mammograms typically start at the age of 40, those women with a mutation start screening at age 25.
This would include yearly mammograms, yearly magnetic resonance imaging, self-breast exams monthly and clinical exams every six months by a physician.
What percentage of breast cancer cases are inherited?
The percent of having the mutation associated with breast cancer is 7 percent. We only test those women that have specific risk factors in the family. The mutation can be passed down from the father or mother and can be given to sons and daughters. If the mutation is in the family there is a 50/50 chance of inheriting it.
Once a BRCA mutation is identified, we need to discuss identifying those family members at risk that also need testing.
Who should undergo genetic testing for hereditary breast cancer and why?
We use "red flags" in the family history to decide what family members should be tested. Some of these include family members under 50 with breast cancer, multiple breast cancers in an individual at any age, ovarian cancer at any age, three or more relatives with breast cancer on the same side of the family at any age, breast and pancreatic
cancer, breast cancer at any age in an Eastern European Jewish family and a male with breast cancer at any age.
Even just one of these red flags is reason enough to discuss risk evaluation and testing.
Are there any risks to undergoing the test?
There is no risk for genetic testing. The patient comes to the office and we have them rinse their mouth with mouthwash and spit into a cup. We get the DNA from cheek cells and it is just as accurate as a blood test but easier to obtain.
Some people are concerned with the risk of losing insurance. A federal law was passed called the Genetic Information Nondiscrimination Act that does not allow insurance to companies to drop you or prevent you from changing insurances.
What are the advantages of genetic testing?
The advantages of genetic testing are multiple. The testing lets patients know their individual risk if a mutation is found, and it lets other family members know whether or not they require testing. If the test comes back negative, increased screening may not be needed and no further testing required.
Are there any limitations to the test, such as its accuracy?
The test is 100 percent accurate. It is run both forwards and backwards to confirm the findings. A positive result means that we found a mutation. A negative result means that we did not find a mutation. But, even though that person is negative for a genetic mutation, they may still be at an increased risk from family history.
A true-negative result means that a mutation is known in the family but a family member does not have it (50/50 chance of not getting it). This means the person does not have the increased risk of breast or ovarian cancer and does not need increased screening.
http://www.masslive.com/entertainment/index.ssf/2013/05/angelina_jolie_reveals_she_had.html
http://www.masslive.com/breast-cancer/index.ssf/2011/10/breast_cancer_surgeon_susan_ca.html