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Home What is Breast Cancer Diagnosis Ashkenazic jews and Breast Cancer

Ashkenazic jews and Breast Cancer

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Breast Cancer:

American Cancer Society reported that as of Jan 1, 2014 there were more than 3.1 million women living in the United States who previously had a history of invasive breast cancer. Additionally, 232, 670 women will be diagnosed this year with invasive breast cancer. (1)

 

Although breast cancer predominantly affects female population, men can also develop breast cancer. As such, in 2010  206,966 women and 2,039 men in the United States were diagnosed with breast cancer, while 40,996 women and 439 men died from it. (2)

 

Genetics of breast cancer:

Breast cancer can either arise  sporadically or it can inherited. Hereditary breast cancer is characterized by an early age of onset and increased tumors in other organs. Two genes have been linked with breast cancer susceptibility genes, BRCA1 and BRCA2. (3) BRCA1 is located on chromosome 17q21 and BRCA2  on 13q12-13. (4) Women with germline mutations in either of these genes have a 50- 80% risk of breast cancer in their lifetime, and men face a 7% lifetime risk. (3) Moreover, the presence of BRCA1 mutation is associated with younger age of onset. (4)

 

Breast Cancer and Jewish Women:

Jewish women with family history of breast cancer have a higher risk of this condition, than non-Jewish women. Jewish women have a 21-30% carrier rate for the diagnosis of breast cancer by age of 40, while non-Jewish women have a 6.1 % for diagnosis before age of 50. (3) Similarly, 19% of Jewish men with breast cancer have a germ line mutation in BRCA, while only 4-8% of non-Jewish men do. (3) Interestingly, the three most common BRCA mutations are also present at very high rates in Ashkenazi women.  BRCA1 (185delAG/187delAG, 5382insC/5385insC or BRCA2 6174delT mutations is present in 1 in 40 people (2.5 %), accounting for more than 90% of mutations that have been identified, as opposed to 1 in 800 in non-Jewish peoples. (4,5)

 

 

LInk to Ovarian Cancer:

It is important to be aware of the BRCA mutations being linked to ovarian cancer. This cancer is very lethal because it is very difficult to diagnose due to the lack of reliable signs and symptoms for early detection of this cancer, as well as lack of high efficacy of surgical intervention.  Women who test positive for BRCA1 had a 54% chance of developing ovarian cancer, while women with BRCA2 mutations had a 23% risk. (7)

 

Why Jews?:

Jewish community, especially Jews from Central and Eastern Europe, known as Ashkenazi Jews have a higher rate of these mutations. Living in geographically isolated areas, intermarrying for cultural and religious reasons contributed to the increased frequency of BRCA mutations in this population.

 

 

History of discovery:

Ashkenazi Jews have been viewed by the scientific community as a genetically discrete group for a long time. In the end of the 19th century, Bernard Sachs noticed higher prevalence of Tay- Sachs disease in the Jewish population. By the beginning of the 1960s, the scientific research confirmed this discovery and lead to the creation of the first Jewish community screening program in 1971. By 1991,  more than a million Jews were screened leading to 90% decrease of the disease among the Jewish population. This  success of genetic screening of this ethnic population became the pride of the scientific community and confirmed genetic uniqueness of the Ashkenazi Jewish population. (6)

 

Interestingly enough, scientists conducting breast cancer research in the 80s and 90s were aware of higher prevalence of certain genetic conditions in Ashkenazi Jewish population. However, at the time epidemiological studies have not identified Ashkenazi women as being at a higher risk. Moreover, because breast cancer was already considered to be a multifactorial disease, scientists thought that it was unlikely that there was a specific gene that could be identified in a specific ethnic group. Instead, researchers were focusing on families that had multiple cases of breast cancer. In 1994, BRCA was isolated by researchers from sample of 5 such families, who actually happened to be Mormon. In 1995 the National Institute of Health discovered that  one of most frequent  BRCA mutations was found in 3 families out of 21, who were not related, but happened to be of Ashkenazi Jewish descent. The success of Tay- Sachs research in this population not only served as the research model for the scientists interested in learning about BRCA genetics in Ashkenazi Jews, but also provided blood samples, which were stored after the conclusion of Tay Sachs studies, to be used for screening for BRCA mutations in thousands of Jews. This started the NIH and community efforts aimed for studying genetic basis of breast cancer in Ashkenazi Jewish population. (6)

 

 

Risk Benefit Analysis of Genetic Testing

Although these mutations increase one’s risk of developing cancer  does not mean that everyone who is a carrier for this mutation will develop cancer. Certain lifestyle and preventive measures can be taken in order to prevent cancer. Because Jewish people have a higher risk of carrying these mutations, genetic testing is especially important in this population when there is a positive family history of breast cancer or BRCA mutations.

 

Evaluation of a person’s family history as well as genetic testing allows us to identify the persons who are at risk for this condition.(3) In addition to mental preparation, the knowledge provided by genetic testing, will make the patient better informed for selecting the best treatment course. (8) Once identified, these people will start closely monitoring and screening for early detection of breast cancer with the help of mammography, ultrasound, blood tests checking breast cancer biomarkers, and periodic pelvic exams for early ovarian cancer detection. (P Mor and K Orbele) Furthermore, additional prophylactic measure, such as mastectomy and oophorectomy, which have been proven by many studies to significantly decrease the risk of breast and ovarian cancer, can be undertaken by women who test positive. (8)

 

To learn more about BRCA and genetic testing, please visit http://www.lookingforcure.org/index.php?option=com_content&view=article&id=61:brca-testing&catid=37:genetics&Itemid=53

 

Jewish Ethics on Genetic Testing for BRCA

To test, or not to test: that is the question? Judaism obligates Jewish people to guard their health when there is a risk to one’s life-- the principle known as Pichuah Nefesh. This begs multiple questions about how Jewish Ethics and Law view BRCA testing.

 

With regard to Jewish Ethics, there is a clear consensus on this issue for Ashkenazi Jewish patients who already have breast cancer. Recent research shows that the presence of BRCA mutation in women with breast cancer influences the response to different treatment regimens. The recurrence rate of breast cancer tumors in people with BRCA mutations is lower when treated with chemotherapy in addition to surgical removal. In ovarian cancer, BRCA2-positive tumors respond better to treatment with platinum. Thus, Ashkenazi Jewish patients with breast and ovarian cancer are strongly encouraged to consider genetic testing for BRCA as it might change the course and outcome of their treatment. (9)

 

However, when it comes to genetic testing for BRCA mutations in healthy individuals, to determine whether they are predisposed to breast cancer, a careful risk-benefit analysis needs to be considered. Although BRCA mutations in Ashkenazi Jewish population increase the risk of developing breast and ovarian cancer, they only predispose the person to developing breast cancer, but do not guarantee that that individual will develop it. (8) Moreover, not all mutations have been created equal. Some mutations in the BRCA gene may not even cause cancer at all. (9) Yet, people who have a BRCA mutation and have a family history of early onset breast and/or ovarian cancer are at greater risk than people with the mutation, but without the family history.  (9) Therefore, women with such family history and who will test positive for BRCA mutation will be able to take preventive measures early by performing more self-examinations and more frequent mammograms. In this case, the knowledge of such predisposition might empower the person by allowing them to do something about it. On the other hand, the tiruf haddat, emotional burden, of the knowledge that the person might develop cancer might bring distress into their life. (9)

 

Another issue that might arise with genetic testing for BRCA is that of confidentiality vs. lo ta’amod al dam re’ echa (not to stand idly by the blood of your fellow men, Leviticus 19:16). (9) According to Jewish Law the disclosure of private medical information to the third party is strictly forbidden, unless non-disclosure will lead to harm. In the case of genetic testing for BRCA, rabbinical authorities state that the patient’s confidentiality overrules the need to inform the relatives, who might also be at increased risk for developing breast cancer. First, the harm caused to the family members by not disclosing this information is not clear because they might not be carriers of this mutated gene in the first place. Yet, even if they are carriers and consequently have an increased risk of developing breast cancer, there is no certainty that they will develop it or that they will be able to prevent it. Additionally, the woman who is undergoing genetic testing herself is not even obligated by Jewish Law to do so in the first place. Consequently, sharing this private information with the relatives is also her choice. (8)

 

Although disclosing this information might fulfill the commandment to save lives, the social implications of doing so might be violating the woman’s privacy and will go against her own interest.  In orthodox Judaism, rabbinical authorities require prospective spouses to reveal their medical information to one another in order to create a healthy Jewish family. Therefore, this might affect the willingness of the woman’s prospective husband to marry her or to marry into the family at all. (8,9)

 

Another issue in Jewish Law is rabbinical prohibition on female sterilization. This is important when women who test positive for BRCA contemplate oophorectomy in order to prevent ovarian cancer. Oophorectomy is the surgical removal of ovaries and, therefore, is considered to be a form of sterilization. Even though this procedure would be allowed if the woman’s life was in danger by the presence of the ovaries, the  BRCA mutation itself, for reasons previously discussed, may not constitute such danger. That is why this prohibition should at least be considered. (9)

 

Although there are ethical issues in Jewish Law to keep in mind when considering genetic testing for BRCA in the Ashkenazi Jewish population, the decision to test for this mutation still remains the individual’s choice, which should be made after a careful risk-benefit analysis. Just like any other individual medical decision, we recommend that BRCA testing should be discussed with one’s own physician, genetic counselor, rabbi, and support system before proceeding with this.

 

 

 

Ella Starobinska

MD  Candidate, Class of 2017

University of Arizona College of Medicine - Phoenix

 

 

References:

 

1) Cancer Treatment and Survivorship Facts & Figures 2014-2015. http://www.cancer.org/acs/groups/content/@research/documents/document/acspc-042801.pdf. Accessed  August 3, 2014.

2) Breast Cancer Statistics. Center for Disease Control  and Prevention. http://www.cdc.gov/cancer/breast/statistics/. Accessed August 3, 2014.

3) Rubinstein WS. Hereditary breast cancer in jews. Fam Cancer. 2004;3(3-4):249-257.

4) BRCA1 and BRCA2: Prevalence and risks for breast and ovarian cancer. UpToDate.

http://www.uptodate.com/contents/brca1-and-brca2-prevalence-and-risks-for-breast-and-ovarian-cancer. Accessed August 3, 2014.

5) Ashkenazi Jews and Cancer. Fred Hutchinson Cancer Research Center. http://www.fhcrc.org/en/events/cancer-in-our-communities/ashkenazi-jewish-communities.html. Accessed August 3, 2014.

6) Brandt-Rauf SI, Raveis VH, Drummond NF, Conte JA, Rothman SM. Ashkenazi jews and breast cancer: The consequences of linking ethnic identity to genetic disease. Am J Public Health. 2006;96(11):1979-1988.

7)  King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643-646.

8) Eisenberg D. Genetic Screening for Breast Cancer Genes. Aish.com Website. http://www.aish.com/ci/sam/Genetic_Screening_for_Breast_Cancer_Genes.html. Accessed August 3, 2014.

9) Deena Zimmerman. Genetics and Genetic Diseases: Jewish Legal and Ethical Perspectives. Jersey City, NJ: KTAV Publishing House; 2013