Description of Event or Problem · 1
THIS PT IS A FEMALE WHO WAS DIAGNOSED WITH A CLEAR CELL CARCINOMA OF THE OVARY. SHE HAS A FAMILY HISTORY OF WHICH INCLUDES ONE CASE OF ENDOMETRIAL CANCER, ONE CASE OF BREAST CANCER, AND SEVERAL CASES OF COLORECTAL CANCER INCLUDING ONE CASE OF EARLY-ONSET RECTAL CANCER IN A MATERNAL AUNT DIAGNOSED. THIS PT WAS TESTED BY HER ONCOLOGIST IN 2007 FOR MUTATIONS IN THE BRCA1/2 GENES -ASSOCIATED WITH HEREDITARY BREAST AND OVARIAN CANCER- AND TESTED NEGATIVE. SHE WAS TOLD THAT HER CANCER WAS NOT DUE TO A HEREDITARY CAUSE AND WAS NOT OFFERED ANY FURTHER GENETIC TESTING. HER MOTHER THEN PURSUED GENETIC TESTING IN 2008 AND LEARNED THAT SHE CARRIES A MUTATION IN THE MSH2 GENE ASSOCIATED WITH HEREDITARY NONPOLYPOSIS COLORECTAL CANCER -HNPCC OR LYNCH SYNDROME- ASSOCIATED WITH COLORECTAL, ENDOMETRIAL, AND OVARIAN CANCERS. THIS PT WAS THEN REFERRED FOR GENETIC COUNSELING AND TESTING, AND LEARNED THAT SHE CARRIES THE MSH2 MUTATION FOUND IN HER FAMILY. THIS PT WAS VERY ANGRY AND UPSET THAT HER TEST RESULTS WERE MISINTERPRETED IN 2007, AND AS A RESULT, SHE HAD BEN TOLD THAT HER CANCER WAS NOT DUE TO A HEREDITARY CAUSE. SHE WAS ANGRY THAT SHE HAD NOT BEEN OFFERED TESTING FOR HNPCC IN 2007 AND WAS NOW LEARNING 2 YEARS LATER THAT SHE CARRIES A MSH2 MUTATION AND HER CANCER WAS IN FACT DUE TO A HEREDITARY CAUSE. SHE ALSO HAD NOT BEEN HAVING THE SCREENING -INCLUDING YEARLY COLONOSCOPY AND ENDOSCOPY- THAT WOULD HAVE BEEN RECOMMENDED HAD HER MUTATION STATUS BEEN IDENTIFIED AT THAT TIME.