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Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

For a paper appearing in JAMA Network Open, researchers at Sun Yat-sen University and other centers in China present findings from a molecular and clinical analysis of a relatively rare form of colorectal cancer known as synchronous multiple primary colorectal cancer (sMPCC). With targeted next-generation sequencing, immunohistochemistry, and other approaches, the team profiled mismatch repair (MMR) status, microsatellite instability (MSI), and tumor mutational burden in 239 cases of sMPCC, comparing features to those found in single primary colorectal cancer cases enrolled over nearly a decade, from late 2012 to the spring of 2021. Along with higher-than-usual MMR deficiency and MSI in the sMPCC cases, the authors found frequent EGFR and PIK3CA alterations in the CRCs involving multiple primary tumors, while flagging three distinct sMPCC subgroups based on MMR and MSI status. "We propose that the MMR/MSI status of each lesion in patients with sMPCC should be verified before treatment," they suggest, adding that the current findings "indicate that patients with sMPCC with different MMR/MSI statuses may be treated with personalized therapies for better disease management."

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.