How do researchers manage genetic results in practice? The experience of the multinational Colon Cancer Family Registry.

There is consensus internationally that research participants should be offered the opportunity to receive clinically relevant genetic information identified through research, but there is little empirical peer-reviewed work documenting this process. We report the experience of conducting genetic research with nearly 35,000 participants in the Colon Cancer Family Registry, based in the USA, Canada, Australia, and New Zealand. Investigators from six multinational sites provided information about disclosure protocols, implementation, and uptake of genetic results and made suggestions to inform practice.

Lynch syndrome-associated breast cancers do not overexpress chromosome 11-encoded mucins.

Mismatch repair-deficient breast cancers may be identified in Lynch syndrome mutation carriers, and have clinicopathological features in common with mismatch repair-deficient colorectal and endometrial cancers such as tumour-infiltrating lymphocytes and poor differentiation. Mismatch repair-deficient colorectal cancers frequently show mucinous differentiation associated with upregulation of chromosome 11 mucins. The aim of this study was to compare the protein expression of these mucins in mismatch repair-deficient and -proficient breast cancers.

Immunohistochemistry to detect hereditary nonpolyposis colorectal cancer in young patients: the 7-year Auckland experience.

Background: In accordance with the Bethesda Guidelines, Auckland's metropolitan hospitals routinely perform immunohistochemistry for mismatch repair proteins on the tumor specimens of all patients with colorectal cancer aged 50 years and younger. When loss of expression is evident, patients are offered genetic counseling and gene mutation analysis.

Objectives: This study aimed to determine the completeness of young patient capture over the first 7 years of routine testing, to find whether patients were referred for genetic testing, and to determine the proportion of patients found to have a mismatch repair gene mutation.