Frequently Asked Questions

This page lists frequently asked questionsfirst about our study and below about cancer genetics.

FAQs - Our Study

1) Who funds the Jewish Women's Breast and Ovarian Cancer Genetics Study?

The NYU Jewish Women's Breast and Ovarian Cancer Genetics Study has been funded bythe Shifrin-Myer Breast Cancer Research Fund, the Jewish Women's Foundation ofNew York, and individual philanthropists.  If you are interested incontributing to this research, please contact us.

2) Why will I not receive my own results from this study?

We are currently in the first phase of this study, and the purpose of this first phase is to discover possible genetic risk factors.  Part of any well-designed study is the validation of your initial results.  We feel it is our responsibility to replicate our findings before reporting individual result.  This is the reason that we have designed this study to be carried out in an anonymous way so that reporting of individual results is not a possibility.  We will, however, publish the results of this study as a whole in a scientific journal.  At that time, we will also notify all study participants about the published study findings.

3) Why do you need access to some of my medical records?

In order for this study to produce meaningful results, we must ensure that the information we are collecting is as accurate as possible. Accurate and detailed information is particularly important for any diagnosis of breast or ovarian cancer, the results of any breast biopsies, and the results of any genetic testing for cancer susceptibility.  Once we obtain this information, all personal identifying information will be removed from the reports to maintain your confidentiality.  For more information, download our fact sheet about collecting medical record information from the participate/enrollment process page.

4) How will my privacy and genetic information be protected?

Confidentiality is important to us.  There are many steps that we take to ensure thatwe do our best to keep all of your information confidential.

- All study documents and samples are assigned study numbers and are not linked to your name or other personal identifying information.

- The information collected on the demographic form is kept in a database that is completely separate from any other study-related information. 

- All of our databases are maintained on a secure server at NYU School of Medicine,and they are password protected.  

- The survey monkey site used to determine eligibility and collect personal and family history information is a secure site that employs SSL encryption noted by the web address beginning in https.

5) There are many studies about breast cancer.  How is this one unique?

This study focuses on a single, homogeneous population - the Ashkenazi Jewish population.  By limiting the degree of genetic diversity due to differing ethnic backgrounds, this study incerases the chance that we will beable to identify genetic risk factors for hereditary breast and ovariancancer.  Furthermore, our group of statisticians in Dr. Harry Ostrer's laboratory at NYU has developed novel methods for analyzing such data and developing risk assessment models on similar studies in prostate cancer, for example.  By taking a different approach, it is possible that we may identify potential genetic risk factors that have not been described previously.


FAQs -Breast Cancer Genetics

1)What are the BRCA genes?

Genes are the instructions for how our bodies develop, grow, and function on a daily basis. BRCA1 and BRCA2 are two separate genes, located on chromosomes 17 and 13, respectively.   The names stand for breast cancer gene 1 and breast cancer gene 2. Although these genes are named for breast cancer, we all inherit 2 copies of each of these genes (1 from our mother and 1 from ourfather), and they play a very important role in the keeping our cells healthy by helping to repair damage to our DNA.  If there is a change, or mutation, in one of these genes which impacts its ability to function properly, DNA damage will not be repaired as effectively leading to an increased risk ofcertain cancers, primarily breast and ovarian cancers. 

2) How are BRCA mutations passed down in families?

People who have a mutation in either their BRCA1 or BRCA2 gene have a 50/50 chance ofpassing that mutation on to their children.  Therefore, children of someone (man or woman) carrying a BRCA mutation have a 50% chance of inheriting the mutation and a 50% chance of not inheriting it. There is nothing a person can do to control whether they will pass on the functioning copy of the gene or the copy of the gene that is not functioning (the copy with the mutation). Siblings of people who have a mutation have a 50% chance of also having the mutation.

3) If I have a BRCA mutation, will I definitely develop breast cancer?

No. People who inherit a mutation in one copy of their BRCA1 or BRCA2 genes have a higher chance of developing primarily breast and/or ovarian cancer than people who do not have a mutation.   This does not mean they will absolutely develop cancer. 

Both men and women who have a mutation in either BRCA1 or BRCA2 are at an increased risk for cancer.  Depending on if a mutation is in BRCA1 or BRCA2 determines the risk.  Some other cancers have also been associated with BRCA2 in particular melanoma and pancreatic cancer.

Inwomen with a BRCA mutation, the cancer risks are:

 

BRCA1*

BRCA2*

Breast cancer

50% - 85%

50% - 84%

Ovarian cancer

20% - 63%

10% - 27%

*Chance to develop cancer by age 70

In men with a BRCA mutation, the cancer risks are:

 

BRCA1+

BRCA2+

Male breast cancer

Increased

7%

Prostate cancer

Increased

Increased

+Chance to develop cancer by age 80.

4) If I have tested negative for a BRCA mutation, am I still at risk to develop breast cancer?

Yes. Currently, the risk for a woman in the general population to develop breast cancer is 1 in 8 or 12.5%.  In families known to have a BRCA mutation, a person who is found to not carry the mutation has about the same risk to develop breast cancer as a woman in the general population, that is,12.5%.  If someone has a personal or family history of breast cancer but a BRCA mutation is not identified in the family, they are still considered to have a higher chance of developing cancer.  There are known genetic factors other than BRCA1/2 which increase the risk of breast cancer and can be tested for.  Even if additional testing is performed for these other known genes, it may very well be that a genetic risk factor is not able to be identified at this time in families that seem to be high risk.  In these cases, it is possible that there are other hereditary factors contributing to a risk of breast and/or ovarian cancer that we have not yet been able to identify. In fact, mutations in known cancer susceptibility genes are only responsible about 30% of families that seem to have a hereditary predisposition to breastcancer.  The primary goal of the NYU Jewish Women's Breast and Ovarian Cancer Genetics Study is to identify these unknown genetic risk factors.