Article
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
JAMA oncology - 1 Jun 2022
Zeng Chenjie, Bastarache Lisa A, Tao Ran, Venner Eric, Hebbring Scott, Andujar Justin D, Bland Sarah T, Crosslin David R, Pratap Siddharth, Cooley Ayorinde, Pacheco Jennifer A, Christensen Kurt D, Perez Emma, Zawatsky Carrie L Blout, Witkowski Leora, Zouk Hana, Weng Chunhua, Leppig Kathleen A, Sleiman Patrick M A, Hakonarson Hakon, Williams Marc S, Luo Yuan, Jarvik Gail P, Green Robert C, Chung Wendy K, Gharavi Ali G, Lennon Niall J, Rehm Heidi L, Gibbs Richard A, Peterson Josh F, Roden Dan M, Wiesner Georgia L, Denny Joshua C
Abstract excerpt
Importance: Knowledge about the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals. Objective: To identify phenotypes associated with hereditary cancer genes through a phenome-wide association study. Design, Setting, and Participants: This phenome-wide association study used health data from...
Topics
- Acute Disease
- Female
- Gastritis
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Neoplastic Syndromes, Hereditary