Abstract
BackgroundIdentification and adequate management of individuals at risk for hereditary nonpolyposis colorectal cancer (HNPCC) is crucial since surveillance programmes reduce morbidity and mortality. We investigated knowledge about key features of HNPCC in at risk individuals and physicians in surgery, gynecology and oncology.MethodsData were collected using a questionnaire which was answered by 67 mutation carriers and 102 physicians from the southern Swedish health care region. The statements were related to colorectal cancer, heredity and surveillance and the physicians were also asked questions about cancer risks and surveillance strategies.ResultsBoth groups answered questions on colorectal cancer risk, surveillance and genetic testing well, whereas answers about inheritance and risks for HNPCC associated cancer were less accurate. Only half of the family members and one third of the physicians correctly estimated the risk to inherit an HNPCC predisposing mutation. Among family members, young age (<57 years), female sex and recent genetic counseling significantly correlated with better results. Physicians generally underestimated the risk of HNPCC associated cancers and three out of four suggested a later starting age for surveillance than recommended.ConclusionThe finding of similar levels of knowledge about key features of HNPCC in at risk individuals and physicians reflect the challenge physicians face in keeping up to date on hereditary cancer and may have implications for the clinical management and professional relations with HNPCC family members.
Highlights
Identification and adequate management of individuals at risk for hereditary nonpolyposis colorectal cancer (HNPCC) is crucial since surveillance programmes reduce morbidity and mortality
Our study focused on individuals with disease predisposing mismatch repair (MMR) gene mutations, referred to as Lynch syndrome
Questionnaire The questionnaire contained 11 statements related to colorectal cancer in general, HNPCC cancer risk, surveillance, heredity and genetic testing; the statements were to be marked "true" or "false" (Additional file 1)
Summary
Identification and adequate management of individuals at risk for hereditary nonpolyposis colorectal cancer (HNPCC) is crucial since surveillance programmes reduce morbidity and mortality. We investigated knowledge about key features of HNPCC in at risk individuals and physicians in surgery, gynecology and oncology. Clinicians are increasingly expected to be familiar with hereditary cancer, including diagnostic criteria, the genetic testing process and recommendations for surveillance and surgery. Though physicians cannot be expected to have detailed knowledge of causative genes and testing platforms, it remains their responsibility to identify at risk individuals and recommend appropriate surveillance. Members in families with hereditary cancer are increasingly well informed through various educational programmes, printed information, internet sites and a growing number of patient associations. E.g. cancer in the upper urothelial tract, the small intestine, gastric cancer, brain tumor and skin tumors have been linked to HNPCC, but the life time risks for these tumors are
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
