Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant-Reference-Cited by-同舟云学术

Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant

Published:2023-08-04 Issue:4 Volume:22 Page:521-526
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Fillman Corrine,Anantharajah Arravinth,Marmelstein Briana,Dillon Monica,Horton Carolyn,Peterson Candace,Lopez Joseph,Tondon Rashmi,Brannan Terra,Katona Bryson W

Funder

DeGregorio Family Foundation

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10689-023-00346-z.pdf

Reference42 articles.

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2. Hansford S, Kaurah P, Li-Chang H et al (2015) Hereditary diffuse gastric Cancer syndrome: CDH1 mutations and Beyond. JAMA Oncol 1:23–32. https://doi.org/10.1001/jamaoncol.2014.168

3. Lobo S, Benusiglio PR, Coulet F et al (2021) Cancer predisposition and germline CTNNA1 variants. Eur J Med Genet 64:104316. https://doi.org/10.1016/j.ejmg.2021.104316

4. Clark DF, Michalski ST, Tondon R et al (2020) Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer. Genet Med 22:840–846. https://doi.org/10.1038/s41436-020-0753-1

5. Pharoah PD, Guilford P, Caldas C, International Gastric Cancer Linkage Consortium (2001) Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology 121:1348–1353. https://doi.org/10.1053/gast.2001.29611