Cascade testing refers to testing “at-risk” family members for a gene mutation, once the mutation has been found in a family member. For Lynch syndrome, once family members get cascade testing, they can also benefit from screening, cancer prevention, and early detection strategies. Findings of a microsimulation model looking at the cost effectiveness of cascade …
Permanent link to this article: https://inheritedcancer.net/post061025/
PREMM5 is a model to estimate the risk for having Lynch Syndrome. PREMMplus is a model that estimates risks in 19-cancer risk genes, including Lynch Syndrome genes, BRCA, and other genes. A new study that compared PREMM5 and PREMMplus found that PREMMplus was just as good as PREMM5 in identifying patients with Lynch Syndrome. PREMMplus …
Permanent link to this article: https://inheritedcancer.net/post060325/
A new study among patients with Familial Adenomatous Polyposis (FAP), most of whom had a their colon removed to prevent cancer, found that although risk-reducing colectomy is now standard practice in FAP patients, colorectal cancer remains the most common cancer and cause of death in these patients. Recognizing cases of FAP that are ‘de novo’ …
Permanent link to this article: https://inheritedcancer.net/post52725/
Lynch syndrome related cancers have a distinct immune profile. They are generally “immunogenic”, meaning there might be opportunities to develop immune-interception strategies to prevent cancer. What is cancer “interception”? A new study based on work in mice showed that an EZH2 inhibitor (called GSK503) given over 9 weeks in mice lowered the number of adenomas …
Permanent link to this article: https://inheritedcancer.net/post50525/
A new study evaluating colonoscopy age in Lynch Syndrome patients with MSH6 and PMS2 mutations found that among MSH6 and PMS2 carriers, cancer was commonly found, even in those under age 30. Current recommendations suggest delaying colonoscopy until age 30 in these carriers, thus study authors suggest that this might lead to missed opportunities for …
Permanent link to this article: https://inheritedcancer.net/post42725/
In a recent study based on ICARE participants, we compared cancer risk management between those with CHEK2 1100delC (which leads to moderate breast cancer risk, generally more than 20% lifetime risk) versus I157T (which is a low penetrance mutation, with breast cancer risks of less than 20%) 👩🔬 Of the 150 CHEK2 carriers, there were …
Permanent link to this article: https://inheritedcancer.net/post80524/
A new study of 25,591 women found: Based on genetic risk, identifying individuals at: This study challenges a one-size-fits all mammogram screening approach. This approach could possibly reduce rising healthcare costs by reallocating resources and lower unnecessary anxiety that comes with frequent screenings, and even prevent unnecessary procedures. Read the full article to learn more …
Permanent link to this article: https://inheritedcancer.net/post72924/
