Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic

Abstract

A significant proportion of patients with CRC were at high risk for LS. Education and training of health care professionals are essential to ensure proper management.

Increasing Lynch Syndrome Identification Through Establishment of a Hereditary Colorectal Cancer Registry

“…furthermore, our results may be more robust than expected owing to referral and selection biases, because we are a tertiary referral center with a likely higher-risk population, similar to the biases noted in the Brazilian coloproctology clinic study. 16 it is noteworthy that over 20% of our CRC patients who were determined to be at risk after initiation of the registry declined to proceed to genetic testing, likely further biasing our final results.…”

“…a study from a Brazilian tertiary care outpatient coloproctology clinic found that of 212 CRC patients, only 17% had adequate family histories obtained and only 4% had been sent for genetic counseling, but over 50% were found to actually be at risk for ls when the charts were retrospectively reviewed and the families recontacted for their family history data. 16 similarly, a norwegian study of 562 CRC patients from 2 hospitals showed that only 4 patients were sent for genetic counseling despite at least 137 (24%) patients being at high risk on retrospective review, and more patients having insufficient data to assess risk. 5 as with these studies, our differences in the apparent at-risk patients between the 2006 retrospectively assessed time period before the registry creation and the prospectively assessed period from 2007 to 2010 are likely explained by the inadequacy of family history assessment in the earlier time period.…”

“…finally, establishment of a registry and identifying these patients has actually been shown to save lives, furthering the worthiness of the endeavor. [16][17][18] the steps involved in starting a registry and systematized high-risk testing vary depending on the size and type of institution (eg, academic vs community), where the registry is based, and the population that is being assessed (surgical clinic, oncology clinic, etc), and whether funding is available. Regardless of the setting, however, at least 1 institutional "champion" with a reasonable understanding of the hereditary CRC syndromes (whether physician, nurse, or counselor) must be willing to dedicate time to protocol and consent development, institutional review board approval (if research is planned), staff/patient/family education, clinician outreach and education, and database maintenance.…”

Lynch-Syndrom, familiäre adenomatöse Polyposis und andere Polyposis-Syndrome – chirurgischer Blickwinkel

“…Das höchste KRK-Risiko besitzen Männer mit defektem MLH1 oder MSH2 (80% bis zum Alter von 70 Jahren). In sämtlichen Studien [12][13][14] haben Frauen ein geringeres KRK-Risiko als Männer.…”

Adherence to Microsatellite Instability Testing in Young-Onset Colorectal Cancer Patients

“…14,15 several studies have recommended improving adherence to the Bethesda guidelines in patients with CRC, because better adherence could improve the identification of patients and family members with lynch syndrome. [16][17][18][19] this is important because the cumulative risk of metachronous CRC in patients with lynch syndrome is high (approximately 16% at 10 years, 41% at 20 years, and 62% at 30 years), and, thus, frequent colonoscopic follow-up after segmental resection is warranted. 20 in addition, it has been shown that colonoscopy every 1 to 2 years starting at the age of 20 to 25 years in mutation carriers largely reduces the incidence and mortality of CRC.…”