Dr. Jonathan Herman, MD
He is an Assistant Clinical Professor of Obstetrics & Gynecology and Women’s Health at the Albert Einstein College of Medicine of Yeshiva University in New York.
Due to a special interest in the hereditary nature of Breast and Ovarian cancers Dr. Herman has become a leader in the identification, testing and treatment of patients who are at risk for HBOC (Hereditary Breast and Ovarian Cancer Syndrome). Dr. Herman has developed, refined and implemented strategies for testing appropriate patients in the clinical office setting.
Through more than 320 lectures, meetings and media appearances Dr. Herman has taught both the science and the practical application to physicians and their ancillary personnel. Speaking forums have included grand rounds presentations, resident didactic lectures, community based events, as well as dinner conferences and lunch meetings. He is a frequent featured physician at women’s health day events.
Past topic titles have included:
• HBOC & Lynch Syndrome – What a practitioner needs to know
• HBOC in the Ashkenazi Jewish community.
• Clinical approach to BRCA testing
• Clinical approach to Lynch Syndrome testing
• HBOC: The who, what, when and why
• Practical implementation of BRCA testing in office based practice
• A review of HBOC and BRCA testing
• BRCA testing: The basics
The topic of this article is very different. It is not an easy topic. It is about breast cancer and ovarian cancer. Please read it through, as I believe you, your cousin, your next-door neighbor, or just someone you are acquainted with will benefit if they are aware of this information. With knowledge comes power.
Three years ago I delivered a baby boy and eight days later I performed the Bris (circumcision).
After the lox and bagels were served, the baby’s grandmother approached me. She asked if I was taking on new patients and whether she could come to my office, as she had been tested for a BRCA gene mutation.
(A gene is a basic segment of DNA that controls hereditary characteristics such as hair color, eye color, and height, as well as susceptibility to certain diseases. A gene mutation is a change or alteration in a gene so that it does not function in the proper manner. A functioning BRCA gene helps the body prevent cancer. A BRCA gene mutation [named improperly BR for breast and CA for cancer] makes it more likely that a person will develop cancer. The “broken” gene promotes not only breast cancer but also ovarian cancer; they are linked. In medicine, Hereditary Breast and Ovarian Cancer Syndrome, HBOC, is the term used when a BRCA mutation is found.)
The grandmother of this baby already knew a diagnosis of either breast or ovarian cancer or both was likely at some point. She wanted to know if I would take care of her. She needed to know what I could do to help. In my office, we sat together and set up a plan to reduce her risks. Her plan included intensive breast surveillance (all imaging and clinical scans were normal) and the removal of her ovaries and fallopian tubes.
Within a couple of weeks, we proceeded with her surgery, which was done laparoscopically, in a 45-minute, minimally invasive manner. Three days later
Dr. Anderson, her pathologist, called to say that in her opinion the patient’s life was saved, as cancer had invaded one ovary but was still confined to it.
Ovarian cancer is rarely found early. Because of the BRCA blood test this time it was. This patient’s case shook me a bit. I still love to deliver babies, but with this “tipping point” event, my career took on a new direction. First, I began to review the literature, including hundreds of citations. I thought about my family, friends, acquaintances, patients, and office staff who could potentially be a part of an HBOC family.
Next, I began to identify those that should be tested and I began to test.
Here are some basic statistics:
It is expected that in 2008, about 182,000 women in the United States will be diagnosed with breast cancer; after treatment, less than one-fourth of those women (about 41,000) will succumb to their disease.
In that same year, it is expected that about 22,000 women in the United States will be diagnosed with ovarian cancer; after treatment, more than three-fourths of those women (about 15,000) will succumb to their disease.
Most breast and ovarian cancers are not linked to known genetic factors—only about 7–10%. We need to identify those 7–10% families. A BRCA blood test can be done to find many of these families. The BRCA test can’t find all of them. BRCA only identifies about 80–85% of genetic breast and ovarian cancers.
BRCA gene mutations affect 1 in 500 women in the general population and 1 in 40 Ashkenazim. That is why, although testing in the general population is recommended only when two or more family members have cancer, Ashkenazim should consider testing even when only one family member—mother, sister, aunt, grandmother—has breast or ovarian cancer.
All it takes is a blood test to prove they are not, with 80–85% confidence! And remember, the broken gene may come from the father’s side of the family.
When a medical test is performed, it is understood that most testing will be negative. This blood test is no different. Remember, even if a patient is identified for testing, the result is still likely to be negative. For those who do test positive, the risk of developing breast cancer by the age of 70 can be as high as 87% (the usual quoted number for the “everywoman” is 7%). For those who test positive, the risk of ovarian cancer can be as high at 40–60% (the usual rate is in the range of 1–2%). Ovarian cancers are one of the most deadly cancers. Today there are modalities like mammography, MRI, ultrasound, medications, and surgeries that can be employed to reduce the risks. Doctors can’t totally nullify the risk, but we can reduce it by 90 percent.
I want to share this e-mail I received this past June from a friend whose job it is to promote testing:
I was in an office speaking to a physician who had just embraced testing a few weeks ago. He let me know that he received his first positive test result for a patient with both a personal and, I believe, family history of breast cancer. We discussed the situation. He mentioned that he was going to encourage the patient to have a risk-reducing BSO (removal of the ovaries). He had left a message for the patient, but had not yet had her come in to discuss the result, so she did not know yet. While I was in the office reviewing some items with the staff, the physician came back to speak to me again. He had just received a phone call from the patient’s husband: the patient had just been admitted with ovarian cancer. All I can think is that if I had convinced this doctor to test a year ago, this may have been prevented. If her oncologist had offered this simple test, she could have been helped earlier. These patients are not just tests. They’re real people that we help! Hopefully, this information will help this family prevent future “stories.”
There is so much more one needs to know about testing and how to use the results properly. In addition to the medicine and the statistics, there are social issues and psychological issues; there are implications for the entire family, too.
This article is about what I advocate—education. Please educate yourself and
those around you..
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