LEARN ABOUT BRCA AND OTHER HEREDITARY CANCER GENETIC MUTATIONS

A LITTLE BIT OF GENETICS

BRCA 1 and BRCA 2 are genes that when working normally, prevent cancer by repairing DNA. When there is a mutation, these genes don’t work, and cancer is more likely to develop.
These genetic mutations are inherited in an autosomal dominant fashion from a parent who carries this mutation—either father or mother. What that means is if either of your parents has a BRCA mutation, you have a 50% chance of inheriting this mutated gene. And, if you carry a BRCA mutation, each of your children and siblings has a 50% chance of carrying the same mutation.

1 IN 40 ASHKENAZI JEWS

both men and women, carries a BRCA mutation which can dramatically increase the risk of developing cancer, even with no family history. Most people do not KNOW.

BRCA BASICS

Men and women who carry a BRCA mutation have a significantly higher lifetime risk of cancer, and these cancers can develop at earlier ages. For example, women who carry a BRCA mutation have up to a 70% lifetime risk of developing breast cancer and up to a 50% lifetime risk of developing ovarian cancer. Men who are BRCA positive have up to a 30% lifetime risk of developing prostate cancer, as well as an increased risk of male breast cancer. Other cancers, such as pancreatic cancer and melanoma can also be seen in BRCA mutation carriers.
UP TO
70%

BREAST CANCER

UP TO
50%

OVARIAN CANCER

UP TO
30%

PROSTATE CANCER

UP TO
10%

PROSTATE CANCER

In addition, you have a 50% chance of passing the BRCA mutation on to each of your children. If you know you have a BRCA mutation, your lifetime risk of developing cancer goes up substantially. But you can take some steps to reduce your risks, but only if you KNOW.

WHO SHOULD BE TESTED FOR BRCA MUTATIONS?

All Ashkenazi Jewish men and women should be tested for BRCA mutations. In fact, as of December 2019, medical guidelines were expanded to include all Ashkenazi Jews with at least 1 of 4 Ashkenazi Jewish grandparents, regardless of family history of cancer. Despite these guidelines, medical insurance has not kept pace and may not cover testing unless there is a family history. Fortunately, through Color Health, Yodeah has been able to secure affordable, clinical-grade testing.

What about other Jewish genetic mutations that increase the risk of cancer?

There are mutations in other genes in both Ashkenazi and Sephardic Jews that can increase cancer risk, for which closer cancer screening is recommended. For example, APC I1307K is a common genetic mutation that is carried by up to 10% of Ashkenazi Jews that slightly increases the risk of colon cancer. Another gene more common in Ashkenazi Jews increases the risk of Lynch Syndrome, a syndrome associated with colon, endometrial, and ovarian cancers. There are also mutations in various genes that are more common in the Sephardic Jewish population. For example, 1 in 80 Sephardic Jews carry a mutation on the ATM gene, which is associated with an elevated risk of breast cancer.

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WHY DO I WANT TO KNOW?

Cancer prevention. We can prevent cancer, but to do so, we must identify who carries a BRCA or other genetic mutation before cancer develops. In BRCA mutation carriers, there are established medical guidelines for increased surveillance to help diagnose cancer at its earliest and most treatable stage, procedure recommendations to decrease the risk of developing these cancers, and even medication that can help prevent cancer. A couple in which one person carries a BRCA mutation can also undergo in vitro fertilization (IVF) with preimplantation genetic diagnosis to prevent their children from carrying a BRCA mutation.
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Yodeah does not provide medical services, make medical referrals or endorse or promote any specific medication, treatment, product or service. Links provided on this website to order test kits are provided solely as a convenience to this website’s visitors. Yodeah is not responsible for the processing of test kits or the provision of test results for any testing service. Yodeah makes no representations regarding the accuracy or efficacy of any testing service.

THE MOST RELEVANT GENES FOR COMMON HEREDITARY CANCERS

* CDK4: analysis is limited to chr12:g.58145429-58145431 (codon 24). EPCAM: analysis is limited to deletions that minimally encompass the 3′ end of the gene including exons 8 and/or 9. GREM1: analysis is limited to duplications that overlap the upstream regulatory region. MITF: analysis is limited to chr3:g.70014091 (including c.952G>A). MUTYH: single heterozygous pathogenic variants, likely pathogenic variants, and variants of uncertain significance are not reported. PMS2: variants of uncertain significance are not reported for exons 12-15. Analysis excludes three variants commonly observed in the pseudogene PMS2CL: c.2182_2184delinsG, c.2243_2246delAGAA and deletion of exons 13-14 (chr7:g.6015768_6018727del). POLD1: analysis is limited to chr19:g.50909713 (including c.1433G>A). POLE: analysis is limited to chr12:g.133250250 (including c.1270C>G).
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