Use of Co-Segregation Evidence in VUS Resolution for Oncology-Focused Genes with Jennifer Herrera-Mullar, MGC, CGC, DMA and Marcy Richardson, PhD

This webinar will explore how co-segregation can be used as a line of evidence in variant assessment for hereditary cancer genes. Due to the variable penetrance and later-onset phenotypes associated with many cancer syndromes, co-segregation analysis can prove to be a complex endeavor. Reviewing the literature and specific case examples, the presenters will discuss when co-segregation analysis is most useful in VUS resolution for hereditary cancer genes and also when this line of evidence does not garner significant information, or can be misleading, for classification.

Jennifer Herrera-Mullar, MGC, CGC, DMA | Presenter

Sr. Genetic Counselor, Cancer Reporting, Ambry Genetics

Jeni Herrera-Mullar is a Senior Oncology Reporting Genetic Counselor at Ambry Genetics, where she also coordinates the cancer division of the free family studies program. Prior to this position, she was a genetic science liaison for Ambry Genetics. She also worked as a clinical genetic counselor at WellSpan Hospital in York, Pennsylvania. Jeni is a graduate of the genetic counseling program at the University of Maryland Medical School in Baltimore, MD. She has interest in the complexities of variant assessment, particularly in the context of newer oncology genes, and is as a guest lecturer for the University of Maryland Medical School genetic counseling training program where she speaks about variant assessment and interpretation.

Marcy Richardson, PhD | Presenter

Variant Assessment Scientist, Ambry Genetics

Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology with research focused on the Wnt and Vitamin D pathways. Following a post-doctoral fellowship at the University of California, San Diego focusing on epigenetics, she began working as a Variant Assessment Scientist at Ambry Genetics in 2015. She focuses on cancer predisposition genes including BRCA1 and BRCA2, among others, and also participates in numerous ClinGen efforts including as an expert for the BRCA1/2 VCEP (ENIGMA), the Polyposis VCEP (InSiGHT) and as the coordinator of the Hereditary Breast, Ovarian and Pancreatic Cancer VCEP.

Sarah Campian, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Sarah Campian joined Ambry Genetics in 2018 as the Oncology Genetic Specialist for the Great Lakes territory. She previously worked as a clinical genetic counselor at the Grosfeld Cancer Genetics Center at Beaumont Health. Her research interests include Lynch syndrome and identification of gene mutation carriers in minority populations. Sarah received her Bachelors of Science degree in Biology from Saginaw Valley State University. She earned her Masters of Science degree in Genetic Counseling from Wayne State University and is certified by the American Board of Genetic Counseling.