The risk of carrying BRCA mutations is much higher in Ashkenazi Jewish women than the general population—about 1 in 40 compared to about 1 in 400. This increased risk for breast and ovarian cancer makes BRCA testing especially important for Jewish women.
Early awareness of genetic risks opens up options for proactive prevention and early detection of potential genetic disorders. In this blog, we’ll discuss why understanding your genetic predisposition can be a game-changer for taking control of your health.
What is BRCA Gene Testing?
BRCA stands for BReast CAncer susceptibility genes, and it refers to two specific genes: BRCA1 and BRCA2. These genes produce proteins that play a key role in preventing tumors by repairing damaged DNA. When functioning properly, they help control cell growth and stop the spread of abnormal cells.
But when these genes are mutated, their protective power is compromised, which can increase the risk of cancers like breast and ovarian cancer. Women who inherit either of the two BRCA mutations have more than a 60% risk of developing breast cancer. Additionally, women with BRCA1 mutations have a 39% to 58% risk of developing ovarian cancer and women with BRCA2 mutations have a 13% to 29% risk.
BRCA gene testing determines if someone has inherited a harmful mutation in one or both of these genes. This test is often recommended for people with a family history of these cancers, particularly those of Ashkenazi Jewish descent. While Sephardi Jews are also at risk, the prevalence of BRCA mutations in their population is lower.
Traditional BRCA testing detects mutations but doesn’t show their full molecular impact. RNA sequencing dives deeper, revealing how mutations affect gene expression and protein production.
Why is BRCA Testing Important for Jewish Women?
Due to the higher risk of BRCA1 and BRCA2 mutations that Jewish women—especially those of Ashkenazi descent—face, BRCA testing is particularly important.
Genetic History and The Founder Effect
The higher prevalence of BRCA mutations in Jewish women can be traced to the genetic isolation of the Ashkenazi Jewish community. Over centuries, this population, which has its roots in Central and Eastern Europe, experienced a level of isolation that led to genetic traits being passed down through generations.
BRCA gene mutations are more common in Ashkenazi Jews due to a genetic bottleneck, a phenomenon known as the “founder effect.” Over generations, these mutations became more prevalent in the descendants of the first Ashekenazi Jew immigrants who had an abnormally high proportion of people with BRCA mutations.
While these genetic mutations are passed down, the way they express themselves within the body can vary. RNA sequencing can provide critical insights into how these inherited mutations actually alter gene activity and contribute to cancer risk.
The Impact of BRCA Mutations on Jewish Women
Around 12% of breast cancers in Ashkenazi Jewish women are linked to BRCA mutations. For women in this group, genetic testing is especially important if they develop breast cancer before age 50 or if they have close relatives with ovarian cancer or a history of early-onset breast cancer. Early intervention can significantly reduce cancer risks and improve outcomes.
To enhance early detection, it’s not enough to identify the mutation; we need to understand how the mutation affects cellular functions. This is where RNA sequencing becomes an invaluable tool, helping researchers better understand the biological consequences of BRCA mutations and their role in cancer progression.
When Should Jewish Women Consider BRCA Testing?
Genetic counseling and testing are recommended if you:
- Have a first-degree relative (parent, sibling, or child) diagnosed with a BRCA-related cancer, especially if they were under 50.
- Have two second-degree relatives (like a grandparent, aunt, uncle, niece, nephew, or cousin) on the same side of the family with these cancers.
- Are planning to have children, even if their family history of BRCA-related cancers seems limited.
Testing can also check for other genetic conditions common in Ashkenazi Jewish ancestry, like Tay-Sachs or Canavan disease. Keep in mind that family cancer history can be unclear, especially with cancers like ovarian and pancreatic, which are often mistaken for “stomach” cancer.
Since about 95% of American Jews are of Ashkenazi descent, even one Jewish grandparent may be enough to consider genetic evaluation.
How Jewish Women Can Access BRCA Testing?
For Jewish women, there are several pathways to obtain genetic testing, whether through healthcare providers, specialized clinics, or at-home testing options.
Specialized Clinics and Healthcare Providers
Several specialized clinics and healthcare providers across the US offer BRCA gene testing. Prominent examples include the Mayo Clinic, which provides comprehensive BRCA testing and genetic counseling services.
Many other academic medical centers and cancer centers throughout the US, such as Abramson Cancer Center at the University of Pennsylvania, provide BRCA testing as part of their genetic screening programs. It is best to contact your healthcare provider or a local cancer center for information specific to your location and insurance coverage.
NHS Testing Programme
NHS England now offers free BRCA gene testing to anyone with one or more Jewish grandparents, regardless of cancer history. Jnetics, in partnership with Chai Cancer Care, is leading a community engagement campaign to support and guide people to this program.
Anyone aged 18 or over, living in England, with at least one Jewish grandparent (of any Jewish ancestry: Ashkenazi, Sephardi, Mizrahi, etc.) is eligible for the BRCA gene testing program.
However, if you are living outside of England, you can opt for testing via your regional genetics center. If you have a personal history of cancer, your oncologist, breast surgeon, breast care nurse, or gynecologic cancer surgeon can arrange for testing. They will either conduct the test or refer you to your regional genetics service.
If your healthcare provider hasn’t referred you, you can request a referral from your GP for genetic testing.
Home Testing Kits
For women who prefer convenience and privacy, home testing kits for BRCA mutations are an option. These kits usually require a saliva sample, which is then analyzed for BRCA gene mutations, including the ones commonly found in Jewish populations.
However, it’s important to keep in mind that these kits are a starting point, not a substitute for professional testing or counseling. These kits typically detect only a few common mutations, often missing rare or lesser-known variants. With over 1,000 known BRCA mutations, relying on home tests risks overlooking critical genetic risks. Additionally, home testing lacks professional genetic counseling, which is crucial for interpreting results.
The BRCA Testing Process: Step-by-Step
BRCA gene testing involves a few key steps:
- Consultation: Speak with a GP, genetic counselor, or oncologist to review your family history and assess your risk. They’ll determine if you’re eligible for NHS testing.
- Sample Collection: Provide a blood or saliva sample. Home kits allow you to collect saliva yourself and send it to the lab.
- Lab Analysis: The lab analyzes your sample for BRCA mutations, typically taking a few weeks.
- Results Interpretation: A healthcare provider explains your results. If positive, they’ll discuss the next steps, like increased screenings or preventive measures.
- Follow-Up: Based on the results, follow-up appointments may involve lifestyle changes or preventive treatments.
Early BRCA testing can help you make informed decisions about your health and reduce your cancer risk through proactive measures.
Beyond lifestyle changes, understanding the molecular basis of BRCA mutations can guide more personalized interventions. RNA sequencing can play a key role in identifying how mutations affect gene activity and how best to manage risk.
The Pathway from Testing to Decisions
What Happens After a Positive BRCA Test?
A positive BRCA test means you’re at a higher risk for certain cancers, but it doesn’t guarantee you’ll develop them. After the test, your healthcare provider or genetic counselor will help you understand the results and guide you on the next steps.
- More Frequent Screenings: You’ll likely start earlier and have more regular screenings, like mammograms, MRIs, and ultrasounds, to catch potential issues early.
- Preventive Surgery: Some people opt for surgeries like a mastectomy or oophorectomy to lower their risk, especially if they want to take more direct action.
- Chemoprevention: Medications like tamoxifen may be recommended to reduce your breast cancer risk if you’re not ready for surgery but want to take preventative steps.
- Genetic Counseling: This is a crucial part of the process. Genetic counselors will offer both practical guidance and emotional support, helping you make informed decisions about your health.
These options are all about taking control of your health and reducing the risk of cancer. It’s a personal choice, and there’s no one-size-fits-all approach.
Encouraging Participation
Encouraging Jewish women to get tested for BRCA is vital for early cancer detection. Here’s how we can boost participation:
- Raise Awareness: Many women don’t know about the higher risk of BRCA mutations in Jewish communities. Sharing straightforward information about the test and its benefits can motivate them to take action.
- Acknowledge Fears: Genetic testing can be intimidating, especially with the emotional weight of a positive result. It’s important to listen to these concerns and offer support. Ensuring access to genetic counseling before and after the test can help ease worries.
- Make Testing Accessible: Whether through NHS programs, home kits, or financial help, making testing easy and affordable is key to encouraging more women to participate.
- Build Community Support: Open conversations about cancer risk can help normalize the process. Hosting events or forming support groups within Jewish communities can raise awareness and share real experiences.
- Offer Empathy: Healthcare providers should be more than just experts—they need to guide women through the process with understanding, showing them they’re not alone in this journey.
These steps make the process more approachable and less daunting and ultimately help women take control of their health.
Recent Discoveries in BRCA Testing Methods
Recent discoveries in BRCA testing methods have significantly enhanced the accuracy and efficiency of genetic testing.
For Example, researchers from the Mayo Clinic Comprehensive Cancer Center have significantly advanced the understanding of genetic alterations in the BRCA2 gene by completing a comprehensive functional assessment of all possible variants within the crucial DNA-binding domain of BRCA2, resulting in the clinical classification of 91% of variants of uncertain significance (VUS) in this part of the gene.
The study utilized CRISPR-Cas9 gene-editing technology to analyze the functional impact of almost 7,000 BRCA2 variants, definitively identifying those that increase cancer risk and those that do not.
Recently, in a study published in the International Journal of Cancer, targeted RNA-seq has been successfully used to analyze naturally occurring splicing events in BRCA1 and BRCA2 genes. This method identifies both normal and pathogenic splicing events, aiding in the classification of variants of unknown significance (VUS) by distinguishing between complete and partial splicing defects.
Hence, by incorporating RNA-seq into genetic testing, the diagnostic yield can be improved. This is demonstrated by studies showing that RNA-seq can identify mis-splicing events associated with pathogenic germline variants in BRCA genes, enhancing the detection of pathogenic variants.
Final Thoughts
BRCA mutations raise the risk of breast and ovarian cancers, especially in Ashkenazi Jewish women. While DNA-based testing identifies these mutations, RNA sequencing reveals their functional impact on gene expression and cancer development.
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FAQs
1. What is BRCA testing, and why is it important for Jewish women?
BRCA testing detects gene mutations linked to higher breast and ovarian cancer risks. Women of Jewish (especially Ashkenazi) descent have a higher chance of carrying these mutations, making the test crucial for early detection and prevention.
2. How common are BRCA mutations in Jewish women?
About 1 in 40 women of Ashkenazi Jewish descent carry a BRCA mutation, significantly increasing their risk for breast and ovarian cancers compared to the general population.
3. What are the benefits of BRCA testing?
BRCA testing helps assess cancer risk and enables early intervention through enhanced screenings, preventive measures, or surgeries. It also provides important information for family members.
4. Who should get BRCA testing?
Jewish women, particularly those with a family history of breast or ovarian cancer, should consider testing. Women with personal cancer histories may also benefit, even without a family history.
5. Is genetic testing for Jewish ancestry free?
Some organizations and healthcare providers offer free or low-cost genetic testing for individuals of Jewish descent, particularly for those with a family history of cancer. It’s worth checking with local resources or genetic counseling centers.
6. Why are Ashkenazi Jews more prone to cancer?
Ashkenazi Jews have higher rates of certain genetic mutations, including BRCA1 and BRCA2, due to a historical genetic bottleneck. This leads to a higher prevalence of mutations linked to breast and ovarian cancers in this population.