HAZEL (not her real name), a 58-year-old Ashkenazi Jewish woman, had a routine mammogram at an Invision Sally Jobe center in the Denver area in November, 2009.
Prefacing that its a little difficult to recall how everything went, Hazel wades into a story that really began when she was very young.
Her mother was diagnosed with breast cancer at age 33 and died four years later. Hazels paternal aunt was diagnosed with the disease at 60.
In 2000, Hazels 55-year-old sister died of ovarian cancer.
Although Hazel previously underwent a hysterectomy, her ovaries were left intact.
When my sister was diagnosed, my gynecologist and doctor said, Your ovaries are coming out yesterday! she laughs.
Recently, Hazels doctors advised her to have alternating mammograms and breast MRIs every six months.
Last November, her mammogram at Invision Sally Jobe revealed an area of concern in the right breast. Hazel had a follow-up diagnostic mammogram and ultrasound.
Due to her family history and Eastern European ancestry, Hazels referring doctor also wanted her to be tested for possible mutations in two genes called BRCA1 and BRCA2.
BRCA mutations are largely responsible for the high risk of hereditary breast and ovarian cancer in Ashkenazi Jewish women.
Its important to note that simply being Jewish in no way guarantees that a woman will develop cancer.
However, Eastern European Jewish ancestry, when combined with other factors, may increase the likelihood of a harmful BRCA mutation which is linked to an estimated 10% of herditary breast cancers.
Hazel met with genetic counselor Mary Freivogel, head of Invision Sally Jobes Risk Assessment and Prevention Program (RAPP) since January, 2009.
RAPPs portfolio encompasses genetic counseling, testing, high risk assessment and early detection.
After discussing the ramifications, Hazel submitted to the BRCA blood draw happily.
I wasnt worried, she says. Im not a worrier. Thats just the way I am.
HAZELS BRCA test showed that she has one of three common gene mutations found in the Ashkenazi Jewish population.
I wasnt surprised at all, given my family history, she says. And since Ive probably had this thing for 58 years, I thought, Whats the big deal?
In December, Hazel found out her diagnostic mammogram was normal but that the ultrasound showed a vague abnormality.
A subsequent MRI confirmed the need to biopsy her right breast.
The X-ray biopsy was benign, but due to her positive BRCA status, Hazel had an additional MRI biopsy.
The next day I got a call, Hazel recounts. They said, Weve got some bad news and some good news.
The bad news is you have a tumor. The good news is that its stage one, we caught it very early, its slow-growing and very small.
Although Hazel wasnt disturbed about testing positive for the BRCA mutation, she was very concerned for her three adult daughters.
Now all three have been tested.
Hazel, who is aware of their results, declines to make them public.
Its private information, she says.
But if you test positive for this gene, your children and their families also need to be tested. Early detection is crucial and its as vital for men as it is for women.
ALL women going to Invision Sally Jobe for their annual mammogram now fill out a new question on the standard medical history form: Ashkenazi Jewish ancestry: Circle yes, no, or unsure.
Invision Sally Jobe first included the question on its forms last June.
Women are here to discuss their breast health, and this is part of the genetic piece, Mary Freivogel tells the IJN.
If they are of Ashkenazi Jewish descent, these women are at higher risk for the mutation.
BRCA1 and BRCA2, which stand for BReast CAncer, were discovered on chromosomes 17 and 13, respectively, in 1994.
Mutations in these genes can also occur in men, potentially leading to breast and prostate cancer.
According to JACOB International: Jews Against Cancer of the Breast, one out of 40 Ashkenazi Jewish women has a BRCA1 or BRCA2 gene mutation, resulting in a 33%-50% risk of developing breast cancer by age 50.
That percentage increases to a 56%-87% risk by age 70.
Although Eastern European Jewish women and men are the highest carriers of the mutation, ethnic groups across the board are vulnerable.
Since Invision Sally Jobe initiated testing for BRCA1 and BRCA2, Freigvogal says she has counseled about 250 women.
Of the 250, 10% were Jewish, she says. About half of them had genetic testing and half of those tested had the BRCA mutation.
Invision Sally Jobe utilizes a programmed reporting system that automatically flags women who may carry the harmful BRCA mutation.
Results are sent directly to the patients referring ob-gyn or internist as opposed to the client.
If our system has identified a woman at risk, we communicate our findings to the physician, Freivogel says.
We include a note with the mammogram results saying the patient may be a candidate for further genetic counseling. We leave it the doctor to communicate our findings.
The future course of action, if any, is up to the woman and her doctor.
Communication protocol between Invision Sally Jobe and physicians is evolving, Freivogel says.
Weve gone around and around about the right way to do this. However, by law, its not our position to recommend additional services.
The criterion used in selecting candidates for genetic testing incorporates a hierarchy of risk factors.
We dont want to test everyone, because BRCA mutations are rare in the general population, Freivogel says. If you are not Jewish, we are going to require a more detailed family history.
If you are Jewish and have a first-degree (mother, sister, daughter) relative with breast cancer, you are a definite candidate for counseling.
But even if you are Jewish and there is no breast cancer in your family, you are in the one-in-30 or one-in-50 group that may have BRCA mutations.
However, testing positive for a mutation does not automatically mean a woman will get cancer.
THE Rose Breast Center at Rose Medical Hospital plans to add a question on Eastern European Jewish ancestry to its forms by the fall of 2010.
The question should be asked because it contributes to factors we consider in a womans risk for hereditary breast cancer, says Dr. John Lewin, medical director of the breast center.
About 2-3% of Ashkenazi Jews will carry a harmful BRCA1 or BRCA2 mutation. This rate is about 10 times that of the non-Jewish population.
When doctors calculate what is termed a womans lifetime risk for breast cancer, potential BRCA1 or BRCA2 mutations can raise the score either slightly or seriously.
For example, if I calculate your risk and you have no family history of the disease, your lifetime risk is five-and-a-half percent, Dr. Lewin tells the IJN.
I havent put in that youre Jewish. But if I factor that in, your risk goes up to 5.7 percent. Its not a very big increase. If you start out with a low risk, being Jewish doesnt bring it up that much.
Just being Jewish does not warrant genetic counseling.
In a recent paper he co-authored by Lisa Mullineaux of the Rocky Mountain Cancer Centers, Dr. Lewin cited four variables used in determining risks:
- family history of breast cancer (on the maternal and paternal side). The risk increases with the number of individuals diagnosed with breast cancer;
- breast cancer diagnosed at a young age, prior to menopause;
- family or personal history of ovarian cancer;
- family history of male breast cancer.
The major factor by far is family history, Dr. Lewin says, especially a mother, sister or daughter diagnosed with breast cancer before age 50.
Its also relevant if you have two aunts, a grandmother or cousins on your fathers side who had breast cancer.
Answering yes to one or more of the above indicates that genetic testing is strongly advisable. If you have family members with breast cancer, absolutely, Dr. Lewin affirms.
But the absence of breast cancer in the family doesnt imply clear sailing ahead.
If you have no other risk factors and you still test positive for the mutation, your risk increases, he says.
The bottom line is that Eastern European Jewish women have a higher rate of developing breast and ovarian cancer primarily due to BRCA1 and BRCA2 mutations, Dr. Lewin says.
While the American Cancer Society now recommends breast MRIs especially for younger women at high risk, the procedure is not a slam dunk, Dr. Lewin cautions. Every patient is faced with a decision in terms of benefits and potential hassles.
Sometimes areas that are not cancerous will light up on an MRI, which means more tests and more worry. On the other hand, we might find cancers that couldnt ordinarily be detected.
Similarly, each woman must weigh the risk-benefit analysis of learning whether she might have inherited a genetic mutation.
The Rose Breast Center does employ an in-house genetic counselor.
Most Ashkenazi Jewish women whose family history suggests they might have the BRCA mutations will have spoken about this with their doctors, Dr. Lewin says.
However, genetic counseling and testing is available at Rocky Mountain Cancer Centers, located across the hall from the Rose Breast Center.
Its great to have access to them, he says.
If a first-degree relative or even paternal aunt had breast cancer relatively early in life, genetic testing can ease the mind of other family members.
And that can be a huge relief.
WHEN contemplating genetic testing for BRCA mutations, the candidate must consider cost and confidentiality.
The BRCA test, which runs about $500, is usually covered by insurance if the person has a family history of breast and ovarian cancer and is an Ashkenazi Jew. Under those circumstances, refusing coverage is pretty rare, Freivogel says.
In Hazels case, the insurance company readily agreed to cover the cost.
Still, anyone thinking about genetic testing should contact his or her insurance carrier to determine coverage.
Neither Invision Sally Jobe nor the Rose Breast Center encourages genetic testing in the absence of accepted medical red flags.
You can still get the test, but insurance may not cover it, Freivogel says.
Regarding confidentiality, the National Cancer Institutes website states that clinical test results are normally included in a persons medical records.
Individuals who seek genetic testing must understand that their results might not be kept private.
The Genetic Information Nondiscrimination Act (GINA), which became federal law in 2008, prohibits discrimination based on genetic information in relation to health insurance and employment.
For example:
- there can be no increase in premiums or contributions to a group health plan based on genetic information; and
- employers cannot refuse to hire and cannot fire individuals based on their genetic information.
Genetic discrimination is against the law, Freivogel says flatly. It cannot be used as a preexisting condition or to raise insurance rates.
Thats the most common urban myth out there.
A WEEK before her surgery, Hazel was still weighing two very dissimilar options: a double mastectomy or lumpectomy.
She already has rejected follow-up chemotherapy and radiation because I dont believe in them. I know this may seem like its out there, but this is my choice.
And people have to believe in what they choose to do for it to work.
As for other women pondering whether to get tested for BRCA1 and BRCA2, Hazel shrugs.
If youre of Ashkenazi Jewish descent, I would say why wouldnt you? Obviously, if you have the gene mutation, youre at greater risk for developing breast and ovarian cancer.
For Hazel, knowledge is power, pure and simple.
It really is, she says. And then you do something about it. Whether you opt for prophylactic measures (removing the breasts or ovaries before any disease is detected) is your choice. But the lack of knowledge is weakness.
Although Hazel was a child when her mother died, that poignant deprivation has only strengthened her resolve.
Im a strong person, she says. Losing my mom, then my sister Im made of really tough stock.
Thats also part of my genetic makeup. And Im thankful.
