Women's Health

The Connection Between Ashkenazi Jewish Descent and Mutated BRCA Genes

The Connection Between Ashkenazi Jewish Descent and Mutated BRCA Genes

Although the book, Gilda’s Disease: Personal Experience and Authoritative Advice on Ovarian Cancer (copyright 1996) is not a recent publication, it’s still a worthy resource to learn from the personal experiences of comedian Gene Wilder as he watched this disease take his wife away from life and from him.

Wilder was the book’s collaborator; Dr. M. Steven Piver. M.D., ovarian oncologist at Roswell Park Cancer Institute was the book’s author. Between the two of them, the medical aspects of this disease and the effect ovarian cancer and its treatment have on women and their loved ones is graphically drawn.

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Excerpts from Gilda’s book, It's Always Something, are also included. Many remember her from Saturday Night Live.

Gilda was Jewish; for Jewish women, the risk of contracting ovarian cancer is relatively high compared to other people. Additionally, Gilda was at an even higher risk as a carrier of the mutated BRCA gene which predispose one to ovarian (and breast) cancer.

Following Gilda’s death, the BRCA syndrome became known in some circles as “Gilda’s Disease.”

The cancer risk Ashkinazi Jewish women carry

The cancer risk many Jewish women carry within their genetic structure is described in a recent edition of New York Jewish Week. According to the article, “The 3 Cancers Jews Need to Worry about Most…”, we are informed that not all Jewish people carry a genetic predisposition for cancer. However, a large percentage of those within the Ashkenazi lineage - Jews of European descent - are carriers. This Jewish lineage formed during the pre-Christian era when numbers of Jewish people settled into Sections of Germany and France when they were dispersed from their homeland.

Large numbers of this group are genetically pre-disposed to three types of cancer: ovarian, breast, and melanoma. In the Israel of today, people of Ashkenazi Jewish descent make up the largest population than in any other country. As a result, and with the help of research grants, there are active studies on Jewish people and cancer carried out in Israel on a regular basis. One finding has been that they do not need a familial history of cancer to test positive for the BRCA gene mutation. Thus, the call is out for universal testing of all people of Ashkenazi Jewish descent for the genetic mutation.

Of the three cancer types under discussion, ovarian cancer is the deadliest one for this specified group of Jewish women. Difficult to detect in early stages and with a high mortality rate in the late stages of disease, ovarian cancer is a frightening cancer to many Jewish women. For those who test positive for BRCA, it’s sometimes recommended they have their ovaries removed once they’ve stopped having children.

While there still is not a cure for ovarian cancer, and it remains a disease extremely difficult to diagnose in the early and easily-treatable stages, research continues and has brought some new options into the arena.

New treatment opportunities

For example, women diagnosed with an ovarian tumor can now have an OVA 1 blood test to ascertain if the tumor is cancerous; a welcomed non-surgical option. The test is used to put women with tumors into 2 categories − low risk and high risk. The women labeled low risk are not likely to have cancer. The women called “high risk” are more likely to have a cancer, and are recommended for applicable surgery by a gynecologic oncologist. (American Cancer Society: ACS).

New chemotherapy drugs are being researched; women with ovarian cancer can apply to participate in studies and thus be among the first to receive the treatment. Targeted drug therapy has been refined to the stage where they appear successful with interfering with the growth process of cancer cells. Additionally, there are enzyme drugs to shrink tumors caused by BRCA mutations. Also, a major grant-funded study is currently researching the role the p53 gene may play in ovarian cancer. P53 is a tumor suppressor that when mutated is involved in most human cancers (Israel Cancer Research Fund).

One immunotherapy drug is already approved for ovarian cancer patients, the targeted antibody bevacizumab, which shrinks tumor cells. Also, hormonal cancer drugs such as Tamoxiphen are widely used to inhibit cancer cell growth.

BRCA and breast cancer

Research has shown that BRCA mutations also play a large part in the development of breast cancer. In fact, Ashkenazi Jewish women are found to be 3x more likely to carry the BRCA mutation for ovarian and breast cancer than their counterparts. Considering this finding, recommended actions have included additional breast monitoring with the routine use of MRIs.

Also included in the discussion on women and the mutated BRCA gene is the decisions they may need to make for the cancer-preventing double mastectomy (breast removal surgery), like Angelina Jolie chose to do several years ago.
And, in the background of this discussion, is the incidence of male breast cancer and testing of men for the presences of the BRCA mutation. According to Dr. Levy-Lahed, “A susceptibility to breast cancer can be hidden in families, since mutations can be handed down to women through their fathers.

According to the Rubinstein WS Study on Hereditary Breast Cancer in Jews, 9% of Jewish male breast cancer cases carry germline BRCA mutations vs. about 4 to 8% of non-Jewish male breast cancer cases.” The female relatives of these men were then tested for BRCA. Amazingly, they found that 211 of these women tested were found to be carriers of BRCA. About 50% of these women had little or no history of familiar cancer. However, of the women themselves, 60% of the BRCA1 and 30% of the BRCA2 carriers over aged 60 had developed breast or ovarian cancer, with higher percentages for those who’d reached age 80.

It’s been strongly inferred that Jewish males need to be included in the education and testing process for genetically inherited breast cancer.

Melanoma and Ashkenazi Jewish descent

The other type of cancer which shows up in many Jewish people is melanoma. While this type of cancer can show up on mucus membranes of the body or even in the eye, it generally grows on the skin. The latter type is commonly linked to sun exposure. Once again, this type of cancer is more prevalent in the Ashkenazi Jewish population, particularly in women.

Unfortunately, melanoma causes some 80% of cancer deaths and is more common in youths. Dr. Harriet Kluger, Yale cancer researcher, informs us the much higher rate is not only connected to the BRCA genetic disorder found in the Ashkenazi Jews (about 50% OF Israeli Jews), but is also due to Jewish sun-bathing habits.

Another consideration is that melanoma is far less common in Arabs and Israeli Orthodox Jews whose way of dressing “leaves less skin exposed” that does typical “secular” clothes. In fact, research studies have proven that “secular Jews in Israel have more melanoma than Orthodox Jews,” Kluger said.

On the positive side, with increased national education regarding the hazardous effects to the skin by the sun, “Israel's skin cancer rate has gone down from the world's second-highest a decade ago to 18th today.” (Miriam Alster/Flash90)

Of further interest is Kluger’s statement that “Other than staying out of the sun, people should get their skin screened once a year. In Australia, getting your skin screened is part of the culture, like getting your teeth cleaned in America.”

On using sunscreen, Kluger warns “It decreases the chances of getting melanoma, but it doesn’t eliminate the chances.”

What to look for

The New York Jewish Week (NYJW) article explains how the cancerous spots generally look like moles and how we can detect any “worrisome’ ones, using the letters A-F.

We are told to see a doctor if we spot moles that exhibit:

  • Asymmetry
  • Border irregularities
  • Colors: Dark or multiple
  • have a large Diameter,
  • are Evolving (e.g. changing),
  • or are just plain Funny looking.

We are also informed that light-skinned people and redheads should be most vigilant, as well as those in the U.S. who live in sunny locales like California, Florida or the Rocky Mountain states. 

Treatment depends upon the stage of the cancer and may involve surgery, radiation, medications and sometimes chemotherapy.

We learn that “if the melanoma is left undetected … it can spread to distant sites or distant organs. Once melanoma has spread to other parts of the body (known as stage IV), it is referred to as metastatic melanoma, and is very difficult to treat. In its later stages, melanoma most commonly spreads to the liver, lungs, bones and brain; at this point, the prognosis is very poor” (NYJW).

“Current research is underway at Bar-Ilan University where Dr. Cyrille Cohen is using a research grant from the Israel Cancer Research Fund to implant human melanoma cells in mice to study whether human white blood cells can be genetically modified to act as a “switch” that turns on the human immune system’s cancer‐fighting properties”.

Education about the cancer types, ways to help lower risk factors, and the need for genetic testing of women by age 30 are the crux of today’s message to women of Ashkenazi Jewish descent.