Germline Determinants of Esophageal Adenocarcinoma

Minyi Lee¹, George Eng², Anna Handte-Reinecker³; MGH-MIT Gastrointestinal Cohorts Working Group; Vikram S Deshpande¹¹, Omer H Yilmaz¹², Manish K Gala¹³

Collaborators, Affiliations

Collaborators

MGH-MIT Gastrointestinal Cohorts Working Group:
Alvin Jeon³, Eugeniu Stratulat³, Rachid Zagani³, Martin S Taylor⁴, Steffen Rickelt⁵, Dmitriy Kedrin³, Anupam Batra⁶, Ardeshir Hashmi⁷, Norman S Nishioka³, Chin Hur⁸, Lipika Goyal⁹, Fateh Bazerbachi¹⁰, Lawrence Zukerberg⁴

Affiliations

¹ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; MD-PhD Program, Boston University School of Medicine, Boston, Massachusetts.
² Division of Gastroenterology and Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
³ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
⁴ Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
⁵ David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
⁶ Massachusetts General Hospital Division of Senior Health and Harvard Medical School, Boston, Massachusetts; Department of Oncology, Cambridge Memorial Hospital, Cambridge, Ontario, Canada; Department of Oncology, Grand River Regional Cancer Center, Kitchener, Ontario, Canada.
⁷ Massachusetts General Hospital Division of Senior Health and Harvard Medical School, Boston, Massachusetts; Center for Geriatric Medicine, Cleveland Clinic, Cleveland, Ohio.
⁸ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, New York; Division of Digestive and Liver Diseases, Columbia University Vagelos School of Medicine, New York, New York.
⁹ Division of Oncology, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, Massachusetts.
¹⁰ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Interventional Endoscopy Program, CentraCare and St. Cloud Hospital, St. Cloud, Minnesota.
¹¹ Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts.
¹² Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts.
¹³ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address: mgala@mgh.harvard.edu.

PMID: 37507074
PMCID: PMC10592248
DOI: 10.1053/j.gastro.2023.07.015

Germline Determinants of Esophageal Adenocarcinoma

Minyi Lee et al. Gastroenterology. 2023 Nov.

. 2023 Nov;165(5):1276-1279.e7.

doi: 10.1053/j.gastro.2023.07.015. Epub 2023 Jul 26.

Authors

Minyi Lee¹, George Eng², Anna Handte-Reinecker³; MGH-MIT Gastrointestinal Cohorts Working Group; Vikram S Deshpande¹¹, Omer H Yilmaz¹², Manish K Gala¹³

Collaborators

MGH-MIT Gastrointestinal Cohorts Working Group:
Alvin Jeon³, Eugeniu Stratulat³, Rachid Zagani³, Martin S Taylor⁴, Steffen Rickelt⁵, Dmitriy Kedrin³, Anupam Batra⁶, Ardeshir Hashmi⁷, Norman S Nishioka³, Chin Hur⁸, Lipika Goyal⁹, Fateh Bazerbachi¹⁰, Lawrence Zukerberg⁴

Affiliations

¹ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; MD-PhD Program, Boston University School of Medicine, Boston, Massachusetts.
² Division of Gastroenterology and Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
³ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
⁴ Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
⁵ David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts.
⁶ Massachusetts General Hospital Division of Senior Health and Harvard Medical School, Boston, Massachusetts; Department of Oncology, Cambridge Memorial Hospital, Cambridge, Ontario, Canada; Department of Oncology, Grand River Regional Cancer Center, Kitchener, Ontario, Canada.
⁷ Massachusetts General Hospital Division of Senior Health and Harvard Medical School, Boston, Massachusetts; Center for Geriatric Medicine, Cleveland Clinic, Cleveland, Ohio.
⁸ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, New York; Division of Digestive and Liver Diseases, Columbia University Vagelos School of Medicine, New York, New York.
⁹ Division of Oncology, Massachusetts General Hospital Cancer Center and Harvard Medical School, Boston, Massachusetts.
¹⁰ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Interventional Endoscopy Program, CentraCare and St. Cloud Hospital, St. Cloud, Minnesota.
¹¹ Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts.
¹² Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; David H. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts; Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts.
¹³ Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts; Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address: mgala@mgh.harvard.edu.

PMID: 37507074
PMCID: PMC10592248
DOI: 10.1053/j.gastro.2023.07.015

No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of Interest Statement: The authors have no relevant conflicts to disclose.

Figures

**Figure 1:. Germline Mutational Landscape Across Esophageal Adenocarcinoma.**
**(A)** Clinical characteristics of study participants from public genomic and MGH cohorts. ICGC-ARGO refers to International Cancer Genome Consortium Project Accelerating Research in Genomic Oncology; Broad/MSKCC Cohort refers to the pooled public exomes of esophageal adenocarcinoma available on dbGAP; TCGA refers to The Cancer Genome Atlas; Wellderly refers to healthy nonagenarians without history of gastrointestinal neoplasia. **(B)** Number of pathogenic mutations itemized by cancer-predisposing genes across multiple cohorts. Color-coding of entries demonstrates carrier-frequency in their respective cohorts. **(C)** Histogram showing the age at diagnosis of Barrett’s esophagus with high-grade dysplasia or esophageal adenocarcinoma. Mutation carriers and non-carriers are color-coded by blue and gray, respectively. **(D)** Correlation of germline pathogenic mutations with somatic *TP53* status in tumors, segregated by exomes and genomes. **(E)** Correlations between individual genes mutated in the germline and somatic *TP53* status. *** designates P < 0.001 and * designates P = 0.06.

See this image and copyright information in PMC

References

1. Hvid-Jensen F, et al. N Engl J Med 2011;365:1375–83. - PubMed
1. Parasa S, et al. Gastroenterology 2018;154:1282–1289 e2. - PubMed
1. Fitzgerald R, et al. OCCAMS-UK. ICGC-ARGO. 2022. https://platform.icgc-argo.org/
1. The Cancer Genome Atlas Network. Esophageal Carcinoma. dbGAP. 2022. phs000178.v10.
1. Bass A, et al. Exome Sequencing of Esophageal Adenocarcinoma. dbGAP. 2021. phs000598.v2.

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Germline Determinants of Esophageal Adenocarcinoma

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Germline Determinants of Esophageal Adenocarcinoma

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