Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis

Peter P. Stanich; Dareen Elgindi; Elena Stoffel; Erika Koeppe; Ajay Bansal; Rachel Stetson; Debra L. Collins; Dana Farengo Clark; Eve Karloski; Beth Dudley; Randall E. Brand; Michael J. Hall; Yana Chertock; Brian A. Sullivan; Charles Muller; Alice Hinton; Bryson W. Katona; Sonia S. Kupfer

doi:10.14309/ajg.0000000000001996

Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis

Peter P. Stanich, Dareen Elgindi, Elena Stoffel, Erika Koeppe, Ajay Bansal, Rachel Stetson, Debra L. Collins, Dana Farengo Clark, Eve Karloski, Beth Dudley, Randall E. Brand, Michael J. Hall, Yana Chertock, Brian A. Sullivan, Charles Muller, Alice Hinton, Bryson W. Katona, Sonia S. Kupfer

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

INTRODUCTION:Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.METHODS:This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.RESULTS:Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).DISCUSSION:CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.

Original language	English
Pages (from-to)	1877-1879
Number of pages	3
Journal	American Journal of Gastroenterology
Volume	117
Issue number	11
DOIs	https://doi.org/10.14309/ajg.0000000000001996
State	Published - Nov 1 2022

Keywords

Antigens, CD/genetics
Breast Neoplasms
Cadherins/genetics
Colonoscopy
Colorectal Neoplasms/genetics
Female
Germ-Line Mutation
Humans
Middle Aged
Retrospective Studies

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10.14309/ajg.0000000000001996

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Stanich, P. P., Elgindi, D., Stoffel, E., Koeppe, E., Bansal, A., Stetson, R., Collins, D. L., Clark, D. F., Karloski, E., Dudley, B., Brand, R. E., Hall, M. J., Chertock, Y., Sullivan, B. A., Muller, C., Hinton, A., Katona, B. W., & Kupfer, S. S. (2022). Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis. American Journal of Gastroenterology, 117(11), 1877-1879. https://doi.org/10.14309/ajg.0000000000001996

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title = "Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis",

abstract = "INTRODUCTION:Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.METHODS:This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.RESULTS:Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).DISCUSSION:CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.",

keywords = "Antigens, CD/genetics, Breast Neoplasms, Cadherins/genetics, Colonoscopy, Colorectal Neoplasms/genetics, Female, Germ-Line Mutation, Humans, Middle Aged, Retrospective Studies",

author = "Stanich, {Peter P.} and Dareen Elgindi and Elena Stoffel and Erika Koeppe and Ajay Bansal and Rachel Stetson and Collins, {Debra L.} and Clark, {Dana Farengo} and Eve Karloski and Beth Dudley and Brand, {Randall E.} and Hall, {Michael J.} and Yana Chertock and Sullivan, {Brian A.} and Charles Muller and Alice Hinton and Katona, {Bryson W.} and Kupfer, {Sonia S.}",

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year = "2022",

month = nov,

day = "1",

doi = "10.14309/ajg.0000000000001996",

language = "English",

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Stanich, PP, Elgindi, D, Stoffel, E, Koeppe, E, Bansal, A, Stetson, R, Collins, DL, Clark, DF, Karloski, E, Dudley, B, Brand, RE, Hall, MJ, Chertock, Y, Sullivan, BA, Muller, C, Hinton, A, Katona, BW & Kupfer, SS 2022, 'Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis', American Journal of Gastroenterology, vol. 117, no. 11, pp. 1877-1879. https://doi.org/10.14309/ajg.0000000000001996

TY - JOUR

T1 - Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers

T2 - A Multicenter Analysis

AU - Stanich, Peter P.

AU - Elgindi, Dareen

AU - Stoffel, Elena

AU - Koeppe, Erika

AU - Bansal, Ajay

AU - Stetson, Rachel

AU - Collins, Debra L.

AU - Clark, Dana Farengo

AU - Karloski, Eve

AU - Dudley, Beth

AU - Brand, Randall E.

AU - Hall, Michael J.

AU - Chertock, Yana

AU - Sullivan, Brian A.

AU - Muller, Charles

AU - Hinton, Alice

AU - Katona, Bryson W.

AU - Kupfer, Sonia S.

PY - 2022/11/1

Y1 - 2022/11/1

N2 - INTRODUCTION:Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.METHODS:This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.RESULTS:Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).DISCUSSION:CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.

AB - INTRODUCTION:Germline variants in CDH1 are associated with elevated risks of diffuse gastric cancer and lobular breast cancer. It is uncertain whether there is an increased risk of colorectal neoplasia.METHODS:This was a retrospective analysis of colonoscopy outcomes in patients with germline CDH1 pathogenic/likely pathogenic variants.RESULTS:Eighty-five patients were included with a mean age of 46.9 years. Initial colonoscopy found adenomatous polyps in 30 patients (35.3%), including advanced adenomas in 9 (10.6%). No colorectal cancers were identified on index or subsequent colonoscopies (when available).DISCUSSION:CDH1 carriers have colorectal neoplasia identified at similar rates as in the general population. Despite potential difficulties after gastrectomy, colorectal cancer screening remains important in this population.

KW - Antigens, CD/genetics

KW - Breast Neoplasms

KW - Cadherins/genetics

KW - Colonoscopy

KW - Colorectal Neoplasms/genetics

KW - Female

KW - Germ-Line Mutation

KW - Humans

KW - Middle Aged

KW - Retrospective Studies

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DO - 10.14309/ajg.0000000000001996

M3 - Article

C2 - 36087100

SN - 0002-9270

VL - 117

SP - 1877

EP - 1879

JO - American Journal of Gastroenterology

JF - American Journal of Gastroenterology

IS - 11

ER -

Colorectal Neoplasia in CDH1 Pathogenic Variant Carriers: A Multicenter Analysis

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Keywords

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