Next Article in Journal
A Population-Based Analysis of Breast Cancer Incidence and Survival by Subtype in Ontario Women
Previous Article in Journal
HPV Sampling Options for Cervical Cancer Screening: Preferences of Urban-Dwelling Canadians in a Changing Paradigm
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Current Oncology
Volume 27
Issue 2
10.3747/co.27.5663
curroncol-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
Current Oncology is published by MDPI from Volume 28 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Multimed Inc..
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer

by
M. Aronson
1,*,
C. Swallow
2,
A. Govindarajan
2,
K. Semotiuk
1,
Z. Cohen
1,
P. Kaurah
3,
L. Velsher
4,
I. Ambus
4,
K. Buckley
5,
C. Forster-Gibson
6,
W.S. Meschino
7,
A. Blumenthal
8,
R.H. Kim
9 and
S. Brar
2
1
Sinai Health System, Zane Cohen Centre for Digestive Diseases, University of Toronto, Toronto, ON, Canada
2
Sinai Health System, Department of Surgery, University of Toronto, Toronto, ON, Canada
3
BC Cancer, Vancouver, BC, Canada
4
North York General Hospital, Toronto, ON, Canada
5
Grand River Hospital, Kitchener, ON, Canada
6
Trillium Health Partners, Mississauga, ON, Canada
7
Porcupine Health Unit, Timmins, ON, Canada
8
Lakeridge Health, Oshawa, ON, Canada
9
Sinai Health System, Department of Medicine, Division of Medical Oncology, University of Toronto, Toronto, ON, Canada
*
Author to whom correspondence should be addressed.
Curr. Oncol. 2020, 27(2), 182-190; https://doi.org/10.3747/co.27.5663
Submission received: 8 February 2020 / Revised: 7 March 2020 / Accepted: 6 April 2020 / Published: 1 May 2020

Abstract

Background: CDH1 pathogenic variants (pvs) cause most cases of inherited diffuse gastric cancer (dgc), but have low detection rates and vary geographically. In the present study, we examined hereditary causes of dgc in patients in Ontario. Methods: CDH1 testing through single-site or multi-gene panels was conducted for patients with dgc meeting the 2015 International Gastric Cancer Linkage Consortium (igclc) criteria, or with isolated dgc at less than 50 years of age, or with a strong family history of cancer identified at the Zane Cohen Centre (zcc). All CDH1-positive patients at zcc, regardless of cancer history, were summarized. Results: In 15 of 85 patients with dgc (17.6%), a pv or likely pv was identified through CDH1 single-site (n = 43) or multi-gene panel (n = 42) testing. The detection rate was 9.4% overall (8 of 85) and 11% using igclc criteria (7 of 65). No CDH1 pvs were identified in patients with isolated dgc at less than 40 years of age, but 1 pv was identified in a patient with isolated dgc at less than 50 years of age. Multi-gene panels identified 9 pvs (21.4%), including CDH1, STK11, ATM, BRCA2, MLH1, and MSH2. Review of 81 CDH1 carriers identified 10% with dgc (median age: 48 years; range: 38–59 years); 41% were unaffected (median age: 53 years; range: 26–89 years). Observed malignancies other than dgc or lobular breast cancer (lbc) included colorectal, gynecologic, kidney or bladder, prostate, testicular, and ductal breast cancers. Lobular-breast cancer was seen only in 3 families. Conclusions: In Ontario, the detection rate of CDH1 pvs in patients with dgc was low: no pvs were identified in patients with isolated dgc at less than 40 years of age, and 1 was identified in a patient with isolated dgc at less than 50 years of age. Isolated lbc with no dgc was observed in CDH1-positive families, as were pathology-confirmed non-dgc or non-lbc malignancies, which had not previously been reported. Given a phenotype that overlaps with other hereditary conditions, multi-gene panels are recommended for all patients with dgc at less than 50 years of age and for those meeting igclc criteria.
Keywords: hereditary diffuse gastric cancer; hdgc; early-onset disease; breast cancer; lobular hereditary diffuse gastric cancer; hdgc; early-onset disease; breast cancer; lobular

Share and Cite

MDPI and ACS Style

Aronson, M.; Swallow, C.; Govindarajan, A.; Semotiuk, K.; Cohen, Z.; Kaurah, P.; Velsher, L.; Ambus, I.; Buckley, K.; Forster-Gibson, C.; et al. Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer. Curr. Oncol. 2020, 27, 182-190. https://doi.org/10.3747/co.27.5663

AMA Style

Aronson M, Swallow C, Govindarajan A, Semotiuk K, Cohen Z, Kaurah P, Velsher L, Ambus I, Buckley K, Forster-Gibson C, et al. Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer. Current Oncology. 2020; 27(2):182-190. https://doi.org/10.3747/co.27.5663

Chicago/Turabian Style

Aronson, M., C. Swallow, A. Govindarajan, K. Semotiuk, Z. Cohen, P. Kaurah, L. Velsher, I. Ambus, K. Buckley, C. Forster-Gibson, and et al. 2020. "Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer" Current Oncology 27, no. 2: 182-190. https://doi.org/10.3747/co.27.5663

APA Style

Aronson, M., Swallow, C., Govindarajan, A., Semotiuk, K., Cohen, Z., Kaurah, P., Velsher, L., Ambus, I., Buckley, K., Forster-Gibson, C., Meschino, W. S., Blumenthal, A., Kim, R. H., & Brar, S. (2020). Germline Variants and Phenotypic Spectrum in a Canadian Cohort of Individuals with Diffuse Gastric Cancer. Current Oncology, 27(2), 182-190. https://doi.org/10.3747/co.27.5663

Article Metrics

Back to TopTop