Gastroenterologist Sonia Kupfer, MD, is a skilled specialist in all types of digestive system disorders. As a physician in the Comprehensive Cancer Risk and Prevention Clinic and the Celiac Center, she is particularly focused on diagnosing and treating patients with genetic disorders such as hereditary gastrointestinal cancer syndromes and celiac disease.
She has received funding from the National Institutes of Health/National Cancer Institute for studies of genetic associations in African-American colorectal cancer patients. She is an active member of the American Gastroenterological Association and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC), and served as CGA-ICC President in 2016-17.
Somatic Mutation Profiles of Colorectal Cancer by Birth Cohort.
Somatic Mutation Profiles of Colorectal Cancer by Birth Cohort. JCO Precis Oncol. 2025 Oct; 9:e2500717.
PMID: 41075301
Clinical decision tree for optimizing endoscopic assessment of signet ring cell carcinoma in hereditary diffuse gastric cancer surveillance.
Clinical decision tree for optimizing endoscopic assessment of signet ring cell carcinoma in hereditary diffuse gastric cancer surveillance. Endoscopy. 2025 Oct; 57(10):1118-1127.
PMID: 40506018
In Our Scope of Practice: Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis in Gastroenterology.
In Our Scope of Practice: Genetic Risk Assessment and Testing for Gastrointestinal Cancers and Polyposis in Gastroenterology. Gastroenterology. 2025 Nov; 169(6):1147-1165.
PMID: 40484140
Prevalence of Pathogenic Germline Variants in Patients With Gastric Cancer Ascertained Through Multigene Panel Testing.
Prevalence of Pathogenic Germline Variants in Patients With Gastric Cancer Ascertained Through Multigene Panel Testing. JCO Precis Oncol. 2025 Jun; 9:e2400620.
PMID: 40466029
Gastric Polyposis and Cancer in Western Patients With Familial Adenomatous Polyposis: Epidemiology, Detection, and Management.
Gastric Polyposis and Cancer in Western Patients With Familial Adenomatous Polyposis: Epidemiology, Detection, and Management. J Natl Compr Canc Netw. 2025 Jun; 23(6).
PMID: 40499589
Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment.
Upper GI polyposis and cancer in FAP: diagnosis, surveillance and treatment. Fam Cancer. 2025 May 26; 24(2):49.
PMID: 40418521
Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes.
Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes. Virchows Arch. 2025 Dec; 487(6):1213-1222.
PMID: 40358740
Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer.
Advancing the Evaluation and Management of CDH1-Associated Gastric Cancer. J Natl Compr Canc Netw. 2025 04; 23(4).
PMID: 40203872
Genomic and cellular responses to aspirin in colonic organoids from African- and European-Americans.
Genomic and cellular responses to aspirin in colonic organoids from African- and European-Americans. Physiol Genomics. 2025 Mar 01; 57(3):103-114.
PMID: 39812338
Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology.
Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology. J Natl Compr Canc Netw. 2024 12; 22(10):695-711.
PMID: 39689429