When Joe Fraumeni was a pre-med student in the 1950s, he accompanied a group that visited Massachusetts General Hospital to sit in an amphitheater and watch a patient being cut open for an abdominal operation. As he told me many years later, Joe got so queasy from the sight that he had to walk out and decided not to become a surgeon.

How fortunate we were that he didn’t.

Next, Joe thought he might become a psychiatrist. But during a residency at Memorial Sloan Kettering Cancer Center in New York, a senior physician Joe followed while making the daily rounds noticed something. “You always steer me toward interesting patients,” his mentor observed. “Why is that? I think it’s because you are like a Sherlock Holmes. You’re interested in puzzles and the causes of disease.” 

So Joe instead became an epidemiologist, not exactly considered a field that an ambitious young physician would aspire to at the time.

How fortunate we were that he did.

Joseph Fraumeni Jr. — he always wanted to be called Joe — died on June 22 at age 93 after one of the most distinguished careers in medicine as a pioneering cancer genetics researcher. To me and families like mine, he is a hero, a word I don’t use lightly. 

Joe is best known for work he did with a colleague, Frederick Pei Li. As young doctors at the National Cancer Institute (NCI) in the late 1960s, they stumbled across the heartbreaking case of a 23-year-old father with leukemia whose 10-month-old son had a soft-tissue sarcoma in his arm. Each case was rare, but the odds against both in the same family at such young ages were astronomical.

Their curiosity — the one Joe’s mentor had noticed — kicked in. Like medical detectives, they began studying the extended family. Tracking down hospital records and death certificates across the country, they discovered a wide range of cancers at all ages over many generations. In 1969, they published a paper hypothesizing that it might be caused by an unidentified familial syndrome. Almost nothing was known about hereditary cancers at the time, and most experts expressed skepticism that these seemingly unrelated cancers might have anything in common.

But Joe and Fred persisted, and more than 20 years later they were proved right. In 1990, a team made a breakthrough and electrifying discovery that an inherited mutation in the p53 gene was behind the cancers. The rare condition Li-Fraumeni syndrome is named after them. While there still is no cure, their research has greatly expanded the understanding, screening, and treatment of cancer.

I first met Joe in March 2020, just days before the Covid lockup would begin. I reached out to him because my family has LFS, and my mother, all three of my three siblings, and a nephew died of different cancers. I didn’t inherit the deadly mutation, so had been spared, but wanted to learn more about this syndrome that had devastated my family, and how the medical puzzle had been solved. I was a retired business journalist, and knew next to nothing about genetics and how medical research works.

Before I could start the interview, Joe expressed sympathy for me and my family. Some doctors understandably get a bit numb to the pain of their patients. Not Joe, who seemed to feel the endless suffering of LFS families. Despite my being clueless about the topic, he spent a couple of hours patiently answering my queries.

But that was just the start. Over the next few years, I spoke with Joe dozens of times asking him more questions. He sent me academic articles he thought I should read (and then helped decipher them). He suggested others I should interview, quick to note that medical research is a team effort. Despite suffering some serious ailments in his later years, he would call me, unprompted: “Larry, this is Joe Fraumeni. How are you? Can I help with anything?”

After my book, “A Fatal Inheritance,” part family memoir and part medical mystery, was published in 2024, I was invited to give a talk at the NCI’s Division of Cancer Epidemiology and Genetics. Lots of renowned researchers showed up — because Joe had come, in a wheelchair. They wanted to show him love, an open display of affection that moved me.

Since the p53 mutation was discovered, it has become the most studied gene in the human body; indeed, it’s known as “guardian of the genome” because of its power to regulate cell growth and repair damaged cells — when it isn’t mutated and is working properly. Though there is still no fix for the mutation, the subsequent research spawned by the work of Fraumeni, Li, and other pioneers hasn’t been for naught. The low cost of genetic testing makes it possible to identify at-risk family members who inherit the mutation. And a rigorous screening protocol for LFS patients developed by David Malkin, a protege of Fraumeni and Li, helps detect early-stage malignancies, improving the odds of treating them and prolonging lives. In the future, CRISPR gene-editing technology offers the hope that someday a drug will be developed to repair damaged p53 genes throughout the body, though that is still likely to be years away. We can hope there is another young Joe Fraumeni who can figure that out.

Medical research wasn’t an academic exercise for Joe. His name appears on more than 900 papers in scientific publications, a staggering number, including a few co-authored in the last few years, while in his 90s.

But he was always most focused on helping cancer-ridden families and trying to relieve their anguish. Joe stayed at the NCI as a public servant for a half-century, when a scientist of his stature surely could have left to help start a biotech company and made millions. In retirement, he helped found the Li-Fraumeni Syndrome Association and continued mentoring scientists.

They don’t make many like him anymore. Thank you, Joe, for all you did to help families like mine.

Lawrence Ingrassia, a retired journalist, is the author of “A Fatal Inheritance: How a Family Misfortune Revealed a Deadly Medical Mystery.”