Genetic testing breakthroughs

BY JESSICA LYONS Tuesday, November 4, 2008 9:14 PM EST

Testing for a specific genetic mutation can help determine the risks of getting ovarian or breast cancer, giving those who test positive options that can reduce their risk levels.

Mutations in the BRCA1 and BRCA2 genes can indicate risk for getting these two forms of cancer. It is estimated that five to ten percent of the women who get breast or ovarian cancer have a hereditary form of it.

Dr. Jonathan Herman, an obstetrician and gynecologist at the LIJ Medical Center, said that this kind of genetic testing was discovered in 1994/1995. In the last three and a half years, he said he has done 350 such tests.

Some of the factors that might qualify a person for the test are if they have a personal history of breast or ovarian cancer, two or more family members have had it or if they are of Ashkenazi Jewish decent.

There were several factors behind Howard Beach resident Jennifer DiLandro, a labor and delivery nurse at LIJ, getting tested. First of all, when DiLandro was 18 years old, her mother passed away of cancer. She had been diagnosed with breast cancer in 1985 and went into a two-year remission. When the breast cancer returned in 1987, it spread to her lymph nodes and brain and eventually caused her passing.

Also, a year before DiLandro was tested, another nurse in her unit at LIJ was diagnosed with breast cancer.

While talking to Herman, DiLandro found out that he did BRCA gene testing and he gave her a seminar about it. When her results came back positive in the summer of 2006, DiLandro said the doctor was taken aback.

Herman said the only one out of twenty BRCA gene tests comes back positive.

DiLandro and her husband, Thomas, met with Herman after the results were in to talk about what it meant and what her options were. According to DiLandro’s results, she had a 90 percent chance of getting breast cancer and a 45 percent chance of getting ovarian cancer.

Although she had a difficult time deciding what steps to take, DiLandro eventually made the choice to have a complete hysterectomy, which was done on November 27, 2006 when she was 36 years old. One reason she finally decided to do so was because a close friend had been diagnosed with stage three ovarian cancer and had to have a hysterectomy and chemotherapy and is now in remission.

“That was what really kicked me into wanting to do the hysterectomy,” DiLandro said. “It really hit home when I saw that.”

DiLandro also said she doesn’t know if she would have gone through it if she didn’t have her three daughters, 16-year-old Gerilynn, 9-year-old Victoria and 3-year-old Ava. She said she didn’t want them to have to go through what she did when her own mother had cancer.

However, after the procedure, DiLandro said she became very depressed because of going through abrupt menopause and wants people to realize that this situation goes beyond just physical aspects. She also became agoraphobic and didn’t leave the house for three months. It took about a year for DiLandro to get out of her depression.

Looking back on everything almost two years after her surgery, DiLandro said that she is happy with her decision since she no longer has to wake up wondering if she will get ovarian cancer. The procedure also decreased her chances of getting breast cancer to 45 percent. She does monthly self breast examinations and has either an MRI or sonogram every six months. She also might have a mastectomy in the future.

“I want every women to know there is a test out there,” DiLandro said.

Herman said that deciding the course of action once a person tests positive is a very individual thing. Although he said they can’t get the risk down to zero, steps can be taken to decrease risk.

For more information on BRCA gene testing, contact Herman at 516-358-1200.

LIJ nurse pushes gene test - Blood screening can detect breast cancer probability

By Howard Koplowitz
Friday, October 10, 2008 9:52 AM

Jennifer DiLandro was 18 when her mother died of breast cancer.

Not wanting her three children to live through such an experience, the Howard Beach resident underwent testing last year to see whether she had a genetic mutation that indicates a higher susceptibility to breast and ovarian cancer.

After the test came back positive, DiLandro, a labor nurse at Long Island Jewish Medical Center, underwent a hysterectomy at the hospital and is debating whether to have a mastectomy.

“Just watching my mother get eaten away with breast cancer, I wouldn’t want my kids to see that,” a teary DiLandro said. “I’d rather take a gun and blow my head off.”

DiLandro, 38, was one of five women who spoke about their decision to be tested for the gene known as BRCA during a news conference last Thursday at LIJ.

Each of the women either had cancer themselves or a family who had died from the disease.

Although the BRCA test has been available for 13 years, only 5-10 percent of women who should be tested are aware of its existence, according to Dr. Jonathan Herman, an OB⁄GYN at LIJ.

He and the five women urged those with a family history of breast or ovarian cancer to get the test.

“Don’t let another sad story happen if it doesn’t have to happen,” Herman said.

Of the nearly 650 tests conducted, one out of every 20 patients tested positive for the gene, he said.

A positive BRCA 1 test means the woman by age 70 has a up to 44 percent chance of getting ovarian cancer and up to an 87 percent chance of having breast cancer, compared to a 1.4 percent chance of ovarian cancer for those not carrying the genetic mutation and a 7 percent chance of breast cancer.

If removal of the ovaries and mastectomy are performed, the cancer risk in women who test positive for the gene decreases to a few percent, according to Lauren Reiss, a Forest Hills principal who took the BRCA test because her mother died from ovarian cancer.

While the women suggested those with a strong family history of breast and ovarian cancer take the test, they said having an operation to reduce the risk is a personal decision.

“The idea is to give the patients the opportunity to make a decision,” Herman said.

HealthWatch: Preventative Mastectomies
Dr. Max Gomez Reporting

NEW YORK (CBS)

Some young women concerned about breast cancer are taking drastic measures before the disease even strikes. More and more women are deciding to have a preventative mastectomy to drastically reduce their chances of getting the disease.

Tiffany Seely didn’t have cancer, and her mammogram was completely normal for a 39-year-old woman, but she still had surgery. “Double mastectomy, correct, and an oophorectomy, removal of your ovaries and tubes,” she said.

Seely’s mother had died at age 41 of ovarian cancer and a couple years ago, Seely had a test for BRCA 1 and 2, the so-called breast cancer genes. The test came back positive. “Which left me with an 87 percent chance of breast cancer by age 70, and a 44 percent chance of ovarian by age 70,” Seely said.

She went to see Dr. Lyle Leipziger, plastic and reconstructive surgeon. Seely said she was led to the decision because of “the thought of having to get breast cancer, having to go through chemo, and then maybe the double mastectomy anyway.”

“Today, women are coming in braca positive, stating that ‘I don’t want to ever get this disease. I’d like to avoid it at all costs’,” Leipziger said.

Seely had her double mastectomy, as more women are doing, to reduce their risk of developing breast cancer by as much as 90 to 95 percent. What makes that decision somewhat easier is breast reconstruction can now begin during the same operation as the mastectomy.

“Some women will require an implant type reconstruction. Other women will be able to utilize their own tissue,” Leipziger said.

Seely had reconstruction and has no regrets about her decision. “Having all these surgeries and to actually look great at the end, even better, it’s amazing,” Seely said.

Everyone loves stories about pregnancy, labor, delivery, and the birthing process. Having delivered thousands of babies over the past 18 years, I have some favorites that I love to tell—twins; triplets; babies delivered during blackouts and snowstorms. Some of them involve the very people who are reading this article. (You know who you are!)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 2007, about 178,000 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..

By Jonathan D. Herman, M.D