Kate Thaxton, a pancreatic cancer survivor, delivered inspiring words about her hope for survival. “The statistics are
Mutations in genes that fix mismatched DNA may put people at extra risk for breast cancer and pancreatic cancer, in addition to their well-known ties to colon and cancers, a new report suggests.
But close relatives of people with the inherited mutations, known collectively as Lynch syndrome, don't seem to have any extra cancer risk if they test negative for the defective genes, researchers reported Monday in the Journal of Clinical Oncology.
The mutations "are very rare," according to Mark Jenkins, from the University of Melbourne. Researchers don't know exactly how common Lynch syndrome is, in part because people aren't generally tested unless they have a family history of colon or endometrial cancer.
Jenkins, who worked on the study, said that at most one in 1,000 people probably has the condition.
Still, "the consequences for them are quite severe because the risks of cancer for them are quite high," Jenkins told Reuters Health.
People with Lynch syndrome have a mutation in one of four different genes that are responsible for fixing mistakes that occur when DNA is copied before cells divide—so some of those errors never get repaired.
The link between mutations in the DNA-fixing genes and colon and endometrial cancers is well established. Doctors recommend that people with Lynch syndrome get colonoscopies more often than guidelines suggest for normal-risk people, and women often have their uterus removed when they're done having kids.
But for breast and pancreatic cancers especially, evidence has been mixed. And in other cancers, no clear link to Lynch syndrome has been recorded.
just numbers,” she said. “I am an individual and I am committed to fighting this.”