#MiddleburyCT #BreastCancer #BRCA1Gene
DEAR DR. ROACH: My 73-year-old wife has been diligent in getting her mammograms done, plus blood tests and doctor’s visits every three months. In November 2021, she came down with what seemed like a very bad cold that was actually confirmed by X-ray to be pneumonia. After two rounds of different antibiotics, she had lost 35 pounds, and it left her with weakness and a lingering cough. A CT scan later indicated that she “either has cancer or had cancer in the past.”
Multiple tests later, it was determined that there was a tumor at the 12:00 position in her breast and a tumor in her stomach that had spread to her pelvis and bones in her legs. She started taking letrozole and Ibrance, and although extreme fatigue is the most common side effect, they appear to be working.
My question is, how could this initial breast cancer have gone undetected for some time with all of the regular testing and not set off alarms? As bad as the pneumonia was, it allowed her to receive a diagnosis of a disease that eluded detection by current screening methods and very good physicians. – Anon.
ANSWER: I am so very sorry to hear about your wife. Breast cancer is not just one disease. We think of breast cancer as something that can be easily cured if it is found early, but if you wait too late, it becomes difficult or impossible to cure. Some breast cancers do act that way, but others are much more indolent – they grow slowly and may never get to the point where they threaten a person’s life.
Unfortunately, there are some breast cancers that can become metastatic (spreading to different sites such as the lymph nodes, bones, liver or lungs) before they are detectable at all by even the most sensitive tests, such as a mammogram or MRI. By the time they are found, because of symptoms, they are incurable by surgery and require systemic treatments like chemotherapy and hormonal therapy.
Most metastatic breast cancer is incurable, but newer treatments have improved life expectancy, with the average being three years. Screening for breast cancer is unable to save all lives. More effective treatment, in combination with regular screening, will be necessary to continue to progress against this horrible disease.
DEAR DR. ROACH: If a male inherits the BRCA1 gene, what should his medical concerns be? – B.D.
ANSWER: Men with the BRCA1 gene (mutations in this gene predispose patients to several types of cancer) are at high risk for male breast cancer and prostate cancer. They should perform a monthly breast self-examination and receive a clinical breast exam every year, starting at age 35.
Screening mammography is not recommended for men with a BRCA1 mutation. Prostate cancer screening should certainly be done, possibly starting at age 40, rather than age 55, for average-risk men. There are some medicines that reduce risk of prostate cancer, but these aren’t generally recommended. A diet high in plants, especially tomatoes, which are high in lycopene, has a suggested, but not definitively proven, reduction in risk of prostate cancer.
There is an increased risk for pancreatic cancer among both men and women with this gene, and one guideline recommends screening for pancreatic cancer in a person with a BRCA mutation who also has a first-degree family member (parent, sibling or child) with pancreatic cancer. Colon cancer screening should begin at age 45, just as it does for the general population.
I recommend a visit with a genetic counselor, especially in a person with a BRCA gene mutation who is considering starting a family.
Dr. Roach regrets he is unable to answer individual questions, but he will incorporate them in the column whenever possible. Readers may email questions to ToYourGoodHealth@med.cornell.edu.
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