Search Results - "Matoy, Evanjalina J."

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies by Plowman, Jocelyn N., Matoy, Evanjalina J., Uppala, Lavanya V., Draves, Samantha B., Watson, Cynthia J., Sefranek, Bridget A., Stacey, Mark L., Anderson, Samuel P., Belshan, Michael A., Blue, Elizabeth E., Huff, Chad D., Fu, Yusi, Stessman, Holly A.F.

“…Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%–25% of cases. Historically,…”
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In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk by Matoy, Evanjalina J., Plowman, Jocelyn N., Watson, Cynthia J., Belshan, Michael A., Blue, Elizabeth E., Huff, Chad D., Stessman, Holly A.F.

“…Lynch syndrome (LS) is the most common hereditary cancer syndrome. Heterozygous loss-of-function variants in PMS2 are linked to LS. While these variants are…”
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