Similar outcomes seen in colorectal cancer of differing genetic origin

see Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses

Defects in DNA mismatch repair (MMR) account for about one in seven cases of colorectal cancer. However, this umbrella grouping includes both the inherited disorder Lynch syndrome (secondary to mutations in several different genes) and sporadic gene inactivation (most typically through hypermethylation of the MLH1 gene promoter (MLH1-hm)). Measurable molecular differences in the two types of tumors include BRAF mutations, which occur in 60–70% of sporadic tumors but very rarely in LS-associated tumors. Yet the effect of these distinct origins of MMR deficiency on tumor behavior and patient outcome has not been systematically explored. Now Haraldsdottir et al. report a study in which, despite differing molecular origins of the MMR deficiency among tumors, there were no statistically significant differences in pathologic features or overall patient outcome. The research team retrospectively explored differences in clinical presentation and outcomes in 189 consecutive patients accrued between May 1998 and May 2012 at The Ohio State University Comprehensive Cancer Center, Columbus, Ohio. Both categories of patients had exceptionally good cancer-related survival for both stage I (5-year, 100%) and stage II disease (5-year, 90%). Based on their findings, the researchers conclude that the prognosis for colorectal cancer patients whose tumors contain defects in MMR genes is the same regardless of whether a mutation existed in the germ line or the deficiency occurred sporadically. —Karyn Hede, News Editor

Direct-to-consumer genetic testing fills in health risk gaps for adoptees

see Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees

The uniquely human desire to understand our origins motivates nearly all adoptees who choose to purchase a direct-to-consumer (DTC) genomic test, according to a new study presented in this issue. The Impact of Personal Genomics (PGen) Study, a collaboration between academic researchers and industry scientists from 23andMe and Pathway Genomics, has been evaluating the motivations behind consumer interest in DTC genomic tests. For individuals not biologically related to their parents, family health history may be scant or nonexistent. The current study showed that lack of access to knowledge about their genetic makeup often motivated a personal search for genetic information through DTC tests. The exploratory analysis compared baseline analyses and six-month follow-up of 1,607 participants, including 80 adoptees and 1,527 nonadoptees, who used personal genomic testing (PGT). Participants self-reported demographic information, psychosocial characteristics, family health history, and motivations for seeking PGT. Compared with nonadoptees, adopted individuals were more motivated by their limited knowledge of their family health history and desire to learn their personal disease risk. Half of adoptees and nonadoptees factored perceived actionability of results into their purchasing decision. Both groups were more interested in learning about their own ancestry and disease risk than in their carrier status. Investigators concluded that concerns that adoptees might place too much weight on test results seem unfounded, but they emphasized the need for further study of the long-term health impact on adoptees who receive genetic information. —Karyn Hede, News Editor