An update on APC I1307K homozygosity: observations from a large multigene panel testing cohort.

Leah Zaretsky¹, Marcy E Richardson², Taylor Coleman², Carrie Horton², Magan Trottier², Maggie Feng³, Linda M Polfus², Aimee L Lucas⁴

¹Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Leah.Zaretsky@mssm.edu.

²Ambry Genetics, Aliso Viejo, CA, USA.

³WCG Clinical Inc, Cary, NC, USA.

⁴Division of Gastroenterology and Hepatology, Mount Sinai Morningside and Mount Sinai West, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

PubMed DOI

Abstract

Numerous studies have demonstrated that Ashkenazi Jewish individuals heterozygous for APC c.3902T > A; p.Ile1307Lys have 1.7-fold increased odds of colorectal adenocarcinoma (CRC). The cancer risk for homozygotes is unknown, and published data is based on small sample sizes. Here, we aim to quantitatively evaluate the odds of CRC in homozygotes from a clinical diagnostic setting. Analyses comparin…

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