Publications by authors named "Melanie Corbman"
Background: Lynch syndrome, or hereditary nonpolyposis colorectal cancer, is an autosomal dominant genetic syndrome that predisposes individuals to multiple cancer types. The known cancers associated with Lynch syndrome include colorectal and endometrial cancers as well as cancers of the stomach, ovary, urinary tract, hepatobiliary tract, pancreas, small bowel, and brain. There are no searchable cases of malignant phyllodes of the breast associated with Lynch syndrome.
View Article and Find Full Text PDFThe increasing availability of next-generation sequencing for clinical research dramatically improved our understanding of breast cancer genetics and resulted in detection of new mutation variants. Cancer risk data relating to some of these variants are insufficient, prompting the designation of variants of uncertain significance (VUS). The histopathologic characteristics of these variants have not been previously described.
View Article and Find Full Text PDFArticle Synopsis
- - Genetic testing for diseases like cancer is becoming more common, driven by consumer interest and the availability of complex genomic tests, but access to genetic specialists can't keep up with the demand.
- - The goal of the pilot study was to create and assess a telephone communication protocol for delivering BRCA1/2 test results, which could be adapted for other genetic tests.
- - Analysis of stakeholder feedback and audio recordings from these calls highlighted various challenges, including non-private environments and issues like low health literacy among patients.
Objectives: With an increasing demand for genetic services, effective and efficient delivery models for genetic testing are needed.
Methods: In this prospective single-arm communication study, participants received clinical BRCA1/2 results by telephone with a genetic counselor and completed surveys at baseline, after telephone disclosure (TD) and after in-person clinical follow-up.
Results: Sixty percent of women agreed to participate; 73% of decliners preferred in-person communication.
Purpose: Although not currently recommended, genetic testing of minors for adult hereditary cancer syndromes, along with risks and benefits, is still being debated. Thus, we evaluated parent opinions regarding BRCA1/2 testing of minors, in general, and hypothetically, for parents' own minor child.
Methods: Semistructured interviews were conducted to assess parent opinions regarding BRCA1/2 testing in minors, along with parent rationale for and factors associated with these opinions.