2020
DOI: 10.3390/cancers12061598
|View full text |Cite
|
Sign up to set email alerts
|

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Abstract: E-cadherin (CDH1 gene) germline mutations are associated with the development of diffuse gastric cancer in the context of the so-called hereditary diffuse gastric syndrome, and with an inherited predisposition of lobular breast carcinoma. In 2019, the international gastric cancer linkage consortium revised the clinical criteria and established guidelines for the genetic screening of CDH1 germline syndromes. Nevertheless, the introduction of multigene panel testing in clinical practice has led to an increased i… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
4
1

Citation Types

1
25
0

Year Published

2020
2020
2024
2024

Publication Types

Select...
5
4
1

Relationship

5
5

Authors

Journals

citations
Cited by 43 publications
(26 citation statements)
references
References 158 publications
1
25
0
Order By: Relevance
“…Although environmental risk factors account for variations in incidence and mortality rates worldwide, family history is a major risk factor for gastric cancer [ 13 ]. A number of genetic loci have been associated with GC risk, which may directly impact disease progression or interact with environmental factors in the causal pathway [ 1 , 14 ].…”
Section: Introductionmentioning
confidence: 99%
“…Although environmental risk factors account for variations in incidence and mortality rates worldwide, family history is a major risk factor for gastric cancer [ 13 ]. A number of genetic loci have been associated with GC risk, which may directly impact disease progression or interact with environmental factors in the causal pathway [ 1 , 14 ].…”
Section: Introductionmentioning
confidence: 99%
“…With the widespread introduction of MultiGene Panel Testing (MGPT) in clinical practice, we are observing an increased rate of CDH1 germline mutations in apparently healthy individuals and without any correlation with the classic HDGC syndrome [ 8 ]. The identification of unexpected CDH1 germline mutations in the absence of specific clinical criteria suggests that HDGC syndrome may be a more complex syndrome than the one originally defined [ 9 ]. A cross-sectional prevalence study from the University of Southern California, Los Angeles, included all patients who underwent MGPT between 2012–2014.…”
Section: Future Perspectivesmentioning
confidence: 99%
“…[4] Lifetime BC risks associated with other BC predisposition genes vary from at least a 4-fold increase for the high-risk genes (CDH1, PALB2, PTEN, STK11, and TP53) to a 2-to 3-fold increase for the moderate-risk genes (ATM, CHEK2, NBN, and NF1). [4][5][6][7][8][9][10][11][12] Breast cancer associated with a hereditary predisposition may also be diagnosed at earlier ages; in particular, women with BRCA1/2 or TP53 PVs are often diagnosed with premenopausal BC. [4,13] Contralateral BC risks are influenced by multiple factors, including age at first BC diagnosis, family history of BC, previous treatments, and underlying genetic predisposition.…”
Section: Introductionmentioning
confidence: 99%