Jan and her family knew there must be some connection between the many incidences of cancer in their family. Her father had been diagnosed with colon cancer at age 39 (and later also with bladder, kidney, and pancreatic cancer); her older sister was diagnosed with uterine cancer at age 38; and, Jan herself was diagnosed with uterine cancer at age 50. “All along I was asking doctors if there was any correlation between the cancers, and they would always say, ‘no, there’s no correlation—there never has been.’”
Still, Jan persisted in uncovering the link and, following her own treatment, she visited a geneticist who said she suspected the family had hereditary nonpolyposis colorectal cancer (HNPCC). At that point Jan and her three siblings discussed the idea of genetic testing, but they all feared insurance discrimination, so opted not to pursue testing that time. But when Jan’s younger sister, Patty, was diagnosed with uterine and cervical cancer in 2009 and sought treatment at UCSF, the family reconsidered.
Assured at that point that the Genetic Information Nondiscrimination Act would prohibit any insurance discrimination, Jan made the decision to undergo testing. “They tested my tumor and identified the defective gene, which told us I had Lynch syndrome.” The information, Jan says, finally supported the family’s long suspicion that their cancers were linked. Sadly, it was also during that time that her younger sister Patty passed, highlighting even more the importance of this potentially life-saving information to the remaining family members.
With the results of her genetic testing in hand, Jan communicated with all the family members who could be affected by the information, including her own and her siblings’ children and her father’s brother. Her older sister chose not to be tested; her younger brother was tested and was found to be negative for Lynch syndrome; her niece, Patty’s daughter, was also tested and was found to be negative; her nephew, Patty’s son, was tested and found to be positive; both of her own sons were tested—one was found to be negative, the other positive.
Jan says that the family has found the information to be empowering, as all family members who were found to have Lynch syndrome now follow an aggressive screening protocol that will ensure they find any cancers that arise at the earliest stages. All three undergo yearly colonoscopies and CT scans.
“If there’s one thing I know after having had cancer, it’s that catching it early is the key,” Jan says. “If you catch it early it can be dealt with and you can go on. The three of us who are positive feel lucky that we have the protocol to now stay on top of it—because the chance of our ending up with colon cancer , bladder cancer, or other cancers is extremely high.”
Jan hopes other families will recognize the benefit of genetic testing to the whole family—and especially to the younger generations who have the chance to begin screening at an early age. “I look at my son and my nephew, who both now know they have Lynch syndrome, and I’m just so grateful that we’re doing these tests. I just think it will be truly amazing if this information can help eliminate the pain of cancer we’ve seen in our family for this next generation.”