OA: (Australasian) How does genetic risk information for Lynch syndrome translate to risk management behaviours? | Hereditary Cancer in Clinical Practice | Full Text

Hereditary Cancer in Clinical Practice | Full Text

Table of Contents

• Abstract
• Background
• Methods
• Results
• Discussion
• Conclusion
• Declarations
• References

  Without preventive measures, the development of CRC amongst LS affected individuals is estimated at a lifetime risk of 10 – 74%, depending on sex and the MMR gene mutated [2, 3]. Female carriers are also at an increased risk of gynaecological cancers (GC), with an estimated lifetime risk for endometrial cancer of 14 – 71%, and 4 – 20% for ovarian cancer [2, 3].

Results

Thirty-three people were interviewed. Of the non-carriers (n = 16), 2 reported having apparently unnecessary colonoscopies, and 6 were unsure about what population-based colorectal cancer screening entails. Of the carriers (n = 17), 2 reported they had not had regular colonoscopies, and spoke about their discomfort with the screening process and a lack of faith in the procedure’s ability to reduce their risk of developing colorectal cancer. Of the female carriers (n = 9), 2 could not recall being informed about the associated risk of gynaecological cancers.

Conclusion

Non-carriers and female carriers of Lynch syndrome could benefit from further clarity and advice about appropriate risk management options. For those carriers who did not adhere to colonoscopy screening, a lack of faith in both genetic test results and screening were evident. It is essential that consistent advice is offered to both carriers and non-carriers of Lynch syndrome.