Posted On: October 23, 2023

Do You Know Your Hereditary Risk for Breast Cancer? 

By Eileen West, MD, FACP, NCMP, CCD 

In today’s rapidly advancing field of women’s health medicine, I have been very pleased to see recent developments around breast cancer prevention. One such advancement that holds immense promise is genetic testing. Up to 10% of all breast cancer is caused by an inherited genetic mutation(1), and screening for high-risk family histories helps focus on early intervention.  

Genetic testing for breast cancer is a powerful tool that allows us to identify individuals who may be at higher risk for developing the disease due to specific genetic mutations, such as BRCA1 and BRCA2. Understanding your genetic risk factors can be a crucial step towards a more proactive and personalized approach to your health. In particular: 

• Women with certain genetic mutations can have up to an 87% risk of developing breast cancer by age 70(2) 
• 1 in 40 women of Ashkenazi Jewish heritage have a BRCA gene mutation(3,4) 
• Additional screening is recommended for women with a >20% lifetime risk of breast cancer(5)
• Genetic mutations can be passed down from the mother’s or father’s side of the family 

The first step in understanding genetic risk is to determine whether a patient’s personal and family history places them at higher risk for a genetic mutation. This is accomplished with a hereditary cancer screening questionnaire. It is very helpful to collect as much family history as you can regarding parents, siblings, children, grandparents, and even great–grandparents, aunts, uncles, and cousins prior to answering the questionnaire. Patients with one or more of the following factors are considered appropriate candidates for further genetic testing: 

A PERSONAL HISTORY OF: 

• Breast cancer at any age
• Ovarian cancer at any age
• Metastatic prostate cancer at any age
• Pancreatic cancer at any age
• Colon, rectal, uterine cancer at 64 or younger

A FAMILY HISTORY OF: 

• Breast cancer at 49 or younger
• Two breast cancers in one relative at any age
• Three or more breast cancers in relatives on the same side of the family at any age
• Ovarian, metastatic prostate, pancreatic cancer, or male breast cancer at any age
• Colon, rectal, uterine cancer at 49 or younger
• A gene mutation found in a family member
• Ashkenazi Jewish ancestry with breast cancer at any age

The hereditary cancer screening questionnaire helps to determine whether an individual meets criteria for genetic testing. We believe that currently only about ten percent of individuals who should be considering genetic testing are being tested. There is a lot of room for improvement! 

The genetic testing process begins with a simple blood test or saliva sample, most often collected in our office but can also be done in the comfort of your own home. This is analyzed for specific genetic mutations. If these mutations are detected, it does not mean that you will develop breast cancer, but it does mean that you have a higher risk. Armed with this knowledge, you and your healthcare provider can work together to create a tailored plan that includes increased surveillance, preventative measures, and informed decision-making. 

The hereditary cancer screening questionnaire and, when indicated, genetic testing, offer a unique opportunity for early detection and intervention, which can significantly improve the outcome in high-risk individuals. Additionally, they can help you make informed choices regarding prophylactic surgeries or other risk-reduction strategies. 

When combined with other breast cancer risk assessment tools, genetic screening is a tool designed to protect and empower you. It’s a step towards personalized care, early intervention, and peace of mind. As your physician, I am here to support you through every stage of this journey, ensuring that you receive the best care and guidance for your unique needs. 

Stay informed, stay proactive, and stay healthy. You’ve got this! 

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Dr. Eileen West partners with Myriad Genetics to provide hereditary cancer screening questionnaires and genetic testing for patients in her practice. The cost of the screening questionnaire is included in the membership fee for members of her concierge internal medicine practice, and it is also included in Breast Cancer Risk Assessment consultations available for non-members. Further genetic testing beyond the questionnaire may be done for an additional fee for both members and non-members and is typically covered by insurance for those who qualify. Give us a call at 571-999-9378 for more information. 

 

 

[1] Foulkes, WD. Inherited Susceptibility to Common Cancers. N Engl J Med 2008; 359:2143-2153, November 13, 2008. [2] Ford D, et al. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994 343:692-5. [3] Struewing, JP et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 1997;336:1401–8. [4] Roa, BB et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185–7. [5] Bevers, T et al. NCCN Clinical Practice Guidelines in Oncology: Breast Cancer Screening and Diagnosis. V 1.2016. July 27. Available at https://www.nccn.org/.