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APC: New Takes on an Old Gene

Thursday, April 13, 2023
4:00am PDT
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

APC was identified as the gene responsible for Familial Adenomatous Polyposis in the early 1990s. Since then, we have learned about some interesting features of APC. For example, the last exon of APC is incredibly large, and because of this, unlike most genes, the majority of nonsense and frameshift mutations in APC are not subject to nonsense mediated decay (albeit still pathogenic). We have also identified genotype-phenotype relationships that exist between the location of a pathogenic mutation and a constellation of associated phenotypes that includes not only attenuated or classic burden of adenomatous polyps but also desmoid tumors, CHRPE, hepatoblastoma and thyroid tumors (and more). But that’s all old news. In this talk we will look at the current state of APC variant interpretation and the molecular causes of more recently discovered features for APC including multiple promoters, extremely attenuated phenotypes, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), 5’ involved gross duplications, missense variation, and some updates from the APC ClinGen Variant Curation Expert Panel.

Level of Instruction: Intermediate

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Marcy Richardson
Associate Director, Clinical Research, 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 […]

Dr. Marcy Richardson graduated from Georgetown University with her PhD in Tumor Biology in 2009. Dr. Richardson then joined the University of California, San Diego as post-doctoral fellow researching epigenetics. She began working as a Variant Assessment Scientist at Ambry Genetics in 2015 where she focused on developing variant classification guidelines and investigating complex variants in cancer predisposition genes. Currently, as Associate Director of Clinical Research and Collaborations, Dr. Richardson leads a team that is focused on the analysis and dissemination of genetic data to advance science and medicine. In this role, she guides both independent research and fosters collaborations around the globe. Dr. Richardson participates in and has a leadership role in several expert panels including ENIGMA, GA4GH, and the BRCA1/2 and APC ClinGen Variant Curation Expert Panels (VCEPs).

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Shabnam Asgari
Genomic Science Liaison II, Ambry Genetics
Shabnam Asgari joined Ambry in 2019 as the Oncology Genomic Science Liaison for the Southern California territory. She previously worked as a clinical genetic counselor at the High-Risk Cancer Genetics Program at the Perlmutter Cancer Center in New York. In her current role, she serves as a clinical liaison for the field team to educate […]

Shabnam Asgari joined Ambry in 2019 as the Oncology Genomic Science Liaison for the Southern California territory. She previously worked as a clinical genetic counselor at the High-Risk Cancer Genetics Program at the Perlmutter Cancer Center in New York. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. She is also a program coordinator and student supervisor for Ambry’s Genomic Science Liaison industry rotation. Shabnam received her Bachelors of Science degree in Biology with a minor in psychology from the University of Colorado, Denver. She earned her Masters of Science degree in Genetic Counseling from the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and is certified by the American Board of Genetic Counseling.