Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
FE McRonald et al, EJHG, February 15, 2024
From the abstract: "Only 44% of CRCs were screened for dMMR; these figures varied over four-fold with respect to geography. Of those CRCs identified as dMMR, only 51% underwent subsequent diagnostic testing. Overall, only 1.3% of patients with colorectal cancer had a germline MMR genetic test performed; up to 37% of these tests occurred outside of NICE guidelines. The low rates of molecular diagnostic testing in CRC support the premise that Lynch syndrome is underdiagnosed, with significant attrition at all stages of the testing pathway. "
Remembering My Brother Who Died of Cancer January 11, 2024 Georgia Hurst Blog Article
G Hurst, Cure, January 11, 2024
From the article: "Today marks what would have been my brother Jimmy's 65th birthday. It's a bittersweet moment filled with both celebration and reflection as I remember the incredible person he was and the battle he faced against colorectal cancer caused by Lynch syndrome. In sharing this story, I hope to raise awareness about Lynch syndrome, honor Jimmy's memory and shed light on the challenges of survivor guilt that often accompany the loss of a loved one due to Lynch syndrome. "
How Holiday Conversations About Cancer Can Save Lives
G Hurst, Cure, December 13, 2023
From the article: "Silently plaguing our family is Lynch syndrome, a hereditary cancer syndrome that increases the risk of developing various cancers. This genetic predisposition often goes undetected, affecting approximately 1 in 279 Americans. Lynch syndrome arises from mutations in genes responsible for DNA error repair, potentially leading to tumor formation and triggering cancer. Knowing your family history of Lynch syndrome can be a life-saving intervention. Sadly, it took two of my brothers to develop cancer before I became aware of it. Early detection and screening have reduced my risk of developing cancer and since my diagnosis of having Lynch syndrome, treatment options for those who develop Lynch syndrome cancers have advanced considerably. "
Influence of family history on penetrance of hereditary cancers in a population setting.
Leigh Jackson et al. EClinicalMedicine 2023 11 102159
From the abstract: "Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree family history (relative hazard 10.3 and 7.8, respectively) than those without (7.2 and 4.7). Penetrance to age 60 was also higher in those with a family history (44.7%, CI 32.2-59.3 and 24.1%, CI 17.5-32.6) versus those without (22.8%, CI 15.9-32.0 and 17.9%, CI 13.8-23.0). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of colorectal cancer that was significantly higher in those with a family history (relative hazard 35.6, 48.0 and 9.9) "