Cancer killed my mother, brother, and sisters. As the longest-living member of my family, I was determined to understand why
By Lawrence Ingrassia, STAT News, July 28, 2021
July 10 was a bittersweet and emotional day for me this year, one I had marked on my calendar long before it arrived. It was the date, at 69 years and 30 days, that I became the longest living member of my family. I was then one day older than my brother when he died. My father died at age 59, my mother at 42, and my two younger sisters at 32 and 24. Except for my dad, all died of different types of cancer.
In the U.S., life expectancy is nearly 80 years. In my family, not including me, the average life span was 45.
It turns out there is a genetic mutation in our family that predisposes those who carry it to developing malignant tumors of all types. Statistically, there’s a 50-50 chance of inheriting the mutation, but in our family three of four siblings had it. I’m the only one who didn’t. Life and genetics are random that way.
For many years, we wondered if the tumors were related to my dad’s job as a research chemist in the wood products industry. Perhaps he had unwittingly carried toxic substances home on his clothes, and when he hugged us we had breathed in tiny particles that, over time, triggered cancers.
But that wasn’t the case. I’ll never forget getting a call from my brother, Paul, around 11:30 a.m. on Dec. 8, 2014, while at my desk at the New York Times. He told me he was taking a genetics test at the recommendation of his longtime oncologist due to his personal and family history of cancer. His doctors suspected he might have Li-Fraumeni syndrome, a rare condition named for the two doctors who had discovered it. When he got the lab tests back a few weeks later, there was no ignoring the stark words in capital letters at the top: “RESULT POSITIVE – CLINICALLY SIGNIFICANT MUTATION IDENTIFIED.”
Significant? True, but how about dangerous? Or life-threatening?
There are many genetic mutations linked to cancers, but the mutation inherited by Li-Fraumeni families is especially pernicious. It’s in the p53 gene, a cancer suppressor gene known as the “guardian of the genome” because it regulates DNA repair and cell division. p53 has the remarkable power to stop potentially cancerous cells — cells we all carry — from developing into tumors. That is, when it is working properly. When there’s a mutation in the gene and it doesn’t work properly, the consequences can be tragic.
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