Catchings A

ORCID: 0000-0002-6005-4778 · 2 papers in corpus · active 2022
2022
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics ·doi:10.1016/j.gim.2022.02.016

PurposeThis study aimed to characterize MSH6/PMS2-associated mismatch repair-deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines suggesting more modest phenotypes.MethodsPatients who consented to Insti…

2022
Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.
JCO oncology practice ·doi:10.1200/op.21.00382

Pathogenic germline variants underlie up to 20% of ovarian cancer (OC) and are associated with varying degrees of risk for OC. For mutations in high-penetrance genes such as BRCA1/2, the role of risk-reducing bilateral salpingo-oophorectomy…