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A Mother and Daughter: BRCA2 Mutation and Lynch Syndrome

August 24, 2020

A Mother and Daughter: BRCA2 Mutation and Lynch Syndrome

by Melany Morrison

In 2001, my mother died of breast cancer at just 57 years old. I believe her mother had melanoma on her nose, but I am not aware of any other cancer in the family. My mom was never tested for any mutation.

Endometrial cancer leads to BRCA2 and PMS2 Lynch syndrome diagnoses

In 2014, I was at the gym when I suddenly felt a gush of blood. It was an embarrassing moment that I told my gynecologist a month later at my yearly appointment as a funny story. But she wasn’t amused. She ordered a sonogram for me right away. The results showed that my uterine lining was too thick, and my doctor recommended a hysterectomy. I was referred to a specialist, who had an oncologist on standby to do a quick freeze of the removed tissue during the surgery. Pathology found endometrial cancer in the tissue sample, and so some of my lymph nodes were also tested to ensure that the cancer had not spread. I then had a complete hysterectomy.

I also had genetic counseling and testing. My gynecologist had ordered the test years earlier, but the testing company wanted thousands of dollars to tell me the results, and I declined. This time my health insurance covered the test, and my out-of-pocket cost was just $16. If I knew then what I know now, I would have paid the price to prevent my cancer.

Genetic testing was one of the most difficult parts of the journey for me. I had so many unanswered questions about my family. Testing proved that I not only had a BRCA2 mutation, but a PMS2 mutation that causes Lynch syndrome as well. I also learned that my postoperative PAP smear was completely NORMAL! If it wasn't for the keen eye of my gynecologist, I may not have known I had cancer, unknowingly allowing it to spread.

After learning of my mutations, I opted for a preventive double mastectomy and reconstruction to reduce my risk of breast cancer. I also follow a strict surveillance regimen that includes regular colonoscopies and visits with a dermatologist and a gynecological oncologist.

My diagnoses gave me the courage to learn who my father is

My diagnoses gave me the courage and curiosity to be certain who my father is. I was unsure if the man I called my father all these years was actually my biological father. He agreed to DNA testing, and we learned that my dad was indeed my biological father. He is 80 years old, and although I have encouraged him to have genetic counseling and testing, he doesn’t want to do it.

FORCE helped me connect with my daughter

My daughter is 30 years old. Like me, and perhaps like my mother before me, she inherited my BRCA2 mutation as well as my PMS2 mutation that causes Lynch syndrome. FORCE has helped me learn best how to talk with her. She has accompanied me to FORCE conferences and workshops, and I believe we have grown closer because of FORCE. In memory of my mother, I am grateful to have the chance to learn as much as I can about genetic mutations and to help others navigate this journey.

Melany Morrison, BRCA2 and Lynch Syndrome Uterine Cancer Survivor

Posted in: Stories
Tags: BRCA2, Lynch Syndrome, Uterine Cancer

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