Li Fraumeni (LF) is a hereditary cancer syndrome due to deleterious inherited mutations in the TP53 gene that increases the risk for developing a wide range of cancers, mostly sarcomas, breast cancers, brain tumors, and leukemias.
In the Wall Street Journal article below, journalist Lawrence Ingrassia writes about the multiple deaths in his family from a then unknown cause, and the scientists whose dedicated research spanning decades that eventually unearthed the culprit.
Much has been learned about LF since the death of the author’s mother in the 1950’s; when the author’s brother died after developing multiple cancers in 2019, he knew that he carried a TP53 mutation. However, the disease is still managed in mutation carriers by frequent screenings and tests to catch the cancers as early as possible. There is currently no way to prevent the disease before cancer(s) have taken hold.
As such, CPI funded a project by Dr. Jos Jonkers that could lead to vaccines that prevent cancers with TP53 mutations.
Solving the Cancer Mystery That Devastated My Family
For decades, Lawrence Ingrassia wondered why so many of his loved ones got cancer. Then a team of dedicated researchers discovered the gene p53.
By Lawrence Ingrassia
My most enduring childhood memories of my mom are of her being sick. Of visiting her in the hospital with my older brother and two younger sisters. Of our grandmother staying with us while our mom recuperated from breast cancer surgery. Of seeing her in bed at home with a soulful, sad look on her face.
She had been ill, sometimes gravely, off and on while I was growing up. I’m pretty sure that she first had cancer as early as 1958, when she was 32, though my memory is vague because I was only 6.