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Your Family History Is Talking. Are You Listening?

Writer: Derrick J Beech, MD, FACS
Derrick J Beech, MD, FACS
Oct 5
3 min read

Most breast cancer isn't inherited. But for a meaningful minority of patients, a single inherited gene mutation dramatically raises the risk, and knowing about it in advance can change the entire course of someone's life.


As a surgical oncologist, some of the most powerful conversations I have are with patients learning, often for the first time, that their family history is a message worth decoding.




What Is BRCA1 and BRCA2?

BRCA1 and BRCA2 are genes that normally help repair damaged DNA and suppress tumor growth. When they carry certain mutations, that protective function breaks down, and the risk of breast and ovarian cancer rises sharply.


Women with a BRCA1 or BRCA2 mutation have a significantly elevated lifetime risk of breast cancer compared with the general population, and the risk starts earlier in life. These mutations also raise the risk of ovarian cancer, and in men, they raise the risk of prostate and breast cancer.


BRCA mutations aren't the only inherited risk genes. Others, including PALB2, CHEK2, ATM, and TP53, also raise breast cancer risk and may be included in genetic testing panels.


Who Should Consider Genetic Testing?

Talk to your doctor about genetic counseling if you have any of the following:


  • A close relative (parent, sibling, or child) diagnosed with breast cancer before age 50

  • Breast cancer on both sides of your family, or multiple relatives affected

  • A personal or family history of ovarian cancer

  • A relative with a known BRCA or other inherited mutation

  • Breast cancer in a male relative

  • Ashkenazi Jewish ancestry, since BRCA mutations are more common in this population

  • Triple-negative breast cancer diagnosed at any age

  • A personal history of breast cancer before age 50




What Genetic Counseling Actually Involves

Genetic testing isn't just a blood draw. It starts with genetic counseling, a conversation with a specialist who reviews your family history in detail, explains what a test can and can't tell you, and helps you decide if testing is right for you.


If you proceed, testing is usually done through a blood or saliva sample. Results typically take a few weeks and fall into three categories:


  • Positive, meaning a known harmful mutation was found

  • Negative, meaning no mutation was found, though this doesn't rule out all inherited risk if a strong family history remains unexplained

  • Variant of uncertain significance, meaning a genetic difference was found but it isn't yet known whether it raises risk


If You Test Positive: What Comes Next

A positive result isn't a diagnosis. It's information that lets you and your doctor build a proactive plan, which may include:


  • Earlier and more frequent screening, often starting in your 20s or 30s, and including breast MRI in addition to mammograms

  • Risk-reducing medications, which can lower breast cancer risk for some high-risk women

  • Risk-reducing surgery, such as preventive mastectomy or removal of the ovaries and fallopian tubes, an option some women choose after weighing the benefits and trade-offs carefully with their care team

  • Cascade testing for family members, since your result has direct implications for siblings, children, and other close relatives


This is a deeply personal decision, and there's no single right path. A genetic counselor and your care team can help you weigh your options based on your age, family planning goals, and personal risk tolerance.



A Word on Disparities in Genetic Testing

Genetic counseling and testing have historically been under-used in Black and Latina communities, not because risk is lower, but because of lower referral rates, cost barriers, and less access to genetic counselors. If you have a family history that fits the criteria above, don't wait to be offered testing. Ask for it directly.



Frequently Asked Questions

Does insurance cover genetic testing? Most insurance plans cover genetic counseling and testing for people who meet established risk criteria based on personal or family history. Ask your doctor or insurer about your specific coverage.


If I test negative, am I in the clear? A negative result lowers concern about a known inherited mutation, but it doesn't eliminate all risk, especially if your family history remains strong. Your doctor may still recommend enhanced screening based on family history alone.


Can men pass BRCA mutations to their children? Yes. BRCA mutations can be inherited from either parent and passed to children of any gender.


Is genetic testing the same as a 23andMe test? No. Direct-to-consumer tests typically screen for only a small number of known mutations and are not a substitute for comprehensive clinical genetic testing through a genetic counselor.



Take the Next Step with Ask EDDIE

Wondering if your family history warrants genetic testing? Ask EDDIE, your AI-powered cancer copilot, can help you think through the red flags and prepare questions for your doctor, in plain language, 24/7. Download it free on the App Store and Google Play today.


This article is for educational purposes only and is not a substitute for professional medical advice.

 
 
 

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