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People with BMMRD may have light brown birthmarks on the skin called café-au-lait macules as seen here.

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Hereditary Cancer Diagnostics at ASHG 2016

New research in the world of hereditary cancer diagnostics presented at ASHG 2016.

| 2 min read

New research in the world of hereditary cancer diagnostics presented at ASHG 2016.

The American Society of Human Genetics (ASHG) annual meeting 2016 has hosted esteemed scientists with a broad array of specialties. The Science Explorer sat in on session #37 on Thursday the 20th of October, and learned about some fascinating new research in the world of hereditary cancer diagnostics. Read on for a snapshot of a few of these talks.

First up, George Tiller from the Department of Genetics, Kaiser Permanente, spoke about the prevalence of mutations in high and moderate risk cancer genes (PgmNr 133). His team used a multigene cancer panel to look at the genomes of almost 3,500 patients who either had a clinical presentation of, or a family history of familial cancer syndrome (the most common being breast cancer). Unlike many previous studies, his team’s research was comprised of an ethnically diverse dataset that included information from European, Hispanic, Asian, African, Ashkenazi Jew, Native American, and Middle Eastern patients. The take home message from the talk was that multigene cancer panel testing is clinically valuable, which could be helpful in significantly increasing mutation detection.

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In the second talk of the session, Janet Malek from the Center for Medical Ethics and Health Policy, Baylor College of Medicine, spoke about parental perspectives on whole exome sequencing in pediatric cancer (PgmNr 134). Janet provided the audience with some thoughtful and heartfelt quotes from parents of children with cancer, showing that the parents understand the potential uses of whole exome sequencing. Parents expressed a range of emotions in their answers to questions about whole exome sequencing that were asked by the team of researchers; one parent for example expressed relief that their child’s cancer was not caused by them or their partner, and another conveyed excitement in the potential for their child to have more personalised care saying “…he would essentially have his own treatment plan." Malek also highlighted some important ethical questions, including recognizing that in pediatrics, the parents are the decision makers.

Andrew Shuen then discussed (PgmNr 136) mismatch repair activity in biallelic mismatch repair deficiency syndrome (bMMRD). bMMRD is a childhood cancer syndrome that causes hematological, brain, and gastrointestinal tumours. The researcher from Toronto’s Hospital for Sick Children (SickKids) talked passionately about the team’s newly developed G-T repair assay, and pointed out that the assay could be a useful diagnostic indicator, especially in early cancer management decisions.

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