Lynch syndrome more common than realized, linked to additional tumors

Patients with cancers exhibiting genetic instability are more likely to also have the hereditary condition Lynch syndrome, which increases a person’s risk of developing cancer, according to a new study reported at the 2018 American Society of Clinical Oncology annual meeting in June. Senior study author Zsofia Kinga Stadler, a medical oncologist at Memorial Sloan Kettering Cancer Center (MSKCC), New York, reported results of a genomic study that included 15,000 tumor samples. All study participants were part of a prospective study in which they received cancer treatment at MSKCC. Among people with tumors exhibiting high microsatellite instability, 16% were subsequently found to have Lynch syndrome. The wide variety of tumor types represented also expanded the types of cancer associated with Lynch syndrome. About 1 in 300 people in the general population has Lynch syndrome. Traditionally, people diagnosed with colorectal and endometrial cancers have been tested for the disorder. The new study linked Lynch syndrome to mesothelioma, sarcoma, and adrenocortical cancer, as well as melanoma, prostate, and ovarian germ cell cancer. Strikingly, almost half (45%) did not meet Lynch syndrome genetic testing criteria based on family or personal cancer history. The findings suggest that perhaps all patients with tumors exhibiting high genetic instability should be tested for Lynch syndrome. Because there is a Food and Drug Administration–approved immunotherapy (pembrolizumab) for use in patients with microsatellite instability regardless of tumor type, testing of tumors is increasingly being performed in the clinical setting to identify these patients, providing the study population for the current research. —Karyn Hede, News Editor

New European data protection law leaves open questions for research

Research institutions that rely on aggregated patient data have reason to pay attention to what’s going on in Europe right now. On 25 May 2018, the European Union’s General Data Protection Regulation (GDPR) went into effect. The sweeping new law changes how individually identifiable data are collected, processed, and stored. While many are hailing the new personal privacy protections, there are several unanswered questions for research. Each European country will implement the law as it sees fit. The idea was to permit countries flexibility to make the new law work within existing systems and cultural norms. However, if different countries handle the new requirements too disparately, it could lead to a bureaucratic nightmare for research. Sharing of data could become much more cumbersome. But because there has been a fairly long lead-up to the new law, research groups have been meeting to offer a unified approach, the Code of Conduct for Health Research (http://code-of-conduct-for-health-research.eu), to prevent gridlock. The planned code of conduct is expected to offer guidance for scientists that will delineate country-specific differences in how the law will be implemented. According to the drafting group’s website, 130 individuals representing 80 organizations in health research had supported the code as of September 2017. In July 2018, a first draft will be available for review, but even after the code has been finalized, it must still be approved by the European Data Protection Board, which has not offered clear guidance on how the process will work or how long it will take. Until the code is in place, research institutions could find themselves struggling to interpret the law. —Karyn Hede, News Editor