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genetic risk variants

A Myriad Genetics-funded team found that an 86-SNV polygenic score could modify breast cancer risk in women with pathogenic mutations in cancer risk genes.

Polygenic risk scores have the potential to impact cancer screening, autoimmune disease testing, and therapeutics development, but more diverse data is needed.

An analysis of pediatric cancer survivors suggests subsequent neoplasm risk can increase after certain genotoxic treatments in those with DNA repair gene changes.

Breast cancer risk in carriers of pathogenic CHEK2 variants may be classified as low, moderate, or high by adding in polygenic risk score and family history data.

Results from the PROMPT registry presented at ASCO showed that 10 to 15 percent of women with variants in genes not linked to ovarian cancer had oophorectomies.

The effort will compare clinical sequencing strategies and explore best practices for educating participants and applying the results to patient care.

Data presented at ACMG's online annual meeting suggests that more than 10 percent of prostate cancer patients across disease stages carry inherited cancer-related variants.

A more accurate, integrated risk model for pancreatic cancer included not only clinical risk factors, but also blood markers and pancreatic cancer loci from genome-wide association studies.

The HOPE-Genomics tool features patient-friendly genetic test reports and virtual educational resources to explain the implications of results.

Women with breast cancer from Peru, Mexico, or Colombia who had greater Indigenous American ancestry were more likely to have HER2-positive tumors.

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