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Pleiotropic cancer manifestations of germline CDH1 mutations: Risks and management

JOURNAL OF SURGICAL ONCOLOGY (2022)

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Summary: This study aimed to estimate the sensitivity of IGCLC's 2020 criteria for identifying carriers of CDH1 pathogenic variants and to propose a new set of criteria that is simpler and more sensitive. The medical histories of 112 CDH1 mutation carriers and their 649 family members were reviewed, and the percentages of subjects fulfilling the IGCLC 2015 and 2020 criteria were calculated.

JOURNAL OF MEDICAL GENETICS (2023)

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CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome

Giovanni Corso et al.

Summary: This study aimed to determine the frequency of different pathogenic CDH1 germline mutations in healthy and asymptomatic individuals from families with HDGC syndrome. The results showed that splicing and missense mutations in CDH1 were more commonly found in healthy individuals compared to those with gastric cancer in families meeting HDGC criteria. This suggests that not all pathogenic CDH1 germline mutations confer the same risk of developing gastric cancer.

JOURNAL OF MEDICAL GENETICS (2022)

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Association Between Hereditary Lobular Breast Cancer Due to CDH1 Variants and Gastric Cancer Risk

Lauren A. Gamble et al.

Summary: The study found high rates of occult signet ring cell gastric cancer among carriers of CDH1 P/LP variants with no family history of gastric cancer, suggesting that the germline CDH1 P/LP variants have a highly penetrant gastric phenotype regardless of family history. This data may be useful for counseling families with CDH1 variants presumed to have hereditary lobular breast cancer.

JAMA SURGERY (2022)

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Review Oncology

CDH1 germline mutations in families with hereditary lobular breast cancer

Antonia Girardi et al.

Summary: Pathogenic CDH1 germline mutations are associated with lobular breast cancer, and there are two subgroups of CDH1 mutant carriers: one with both diffuse gastric cancer and lobular breast cancer, and another with lobular breast cancer only. The HLBC syndrome has a higher frequency of CDH1 mutations and early onset of lobular breast cancer. These findings provide insights into the pathophysiological mechanisms and potential for personalized prophylactic and screening measures.

EUROPEAN JOURNAL OF CANCER PREVENTION (2022)

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Customizing local and systemic therapies for women with early breast cancer: the St. Gallen International Consensus Guidelines for treatment of early breast cancer 2021

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ANNALS OF ONCOLOGY (2021)

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Article Oncology

Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast

Siddhartha Yadav et al.

Summary: The study found that ATM, BRCA2, CDH1, CHEK2, and PALB2 pathogenic variants are associated with an increased risk of ILC, while BRCA1 pathogenic variants are not. CDH1 pathogenic variants are significantly enriched in ILC, while BRCA1 pathogenic variants are substantially reduced.

JOURNAL OF CLINICAL ONCOLOGY (2021)

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Review Oncology

Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review

Giovanni Corso et al.

Summary: E-cadherin germline mutations, particularly CDH1 gene mutations, are associated with hereditary diffuse gastric cancer syndrome. The frequency of CDH1 mutations varies across different geographical areas, with a higher incidence in low-prevalence countries. The type and relative frequency of CDH1 mutations also differ between study groups and regions, with missense variants more common in high-incidence areas. Identifying individuals with clinically significant CDH1 mutations is crucial for effective genetic screening and patient management in gastric cancer.

CANCERS (2021)

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Review Oncology

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers

Giulia Massari et al.

Summary: This study aimed to assess the frequency of CDH1 mutations in non-gastric tumors and found that CDH1 mutations are most commonly identified in breast cancer. The results show a higher frequency of missense mutations in non-gastric tumors, and suggest that CDH1 genetic testing should be considered in other cancers, especially breast tumors.

CANCERS (2021)

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E-cadherin deregulation in breast cancer

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JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2020)

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

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CANCERS (2020)

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Hereditary diffuse gastric cancer: updated clinical practice guidelines

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LANCET ONCOLOGY (2020)

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Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

Rosa M. Xicola et al.

JOURNAL OF MEDICAL GENETICS (2019)

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Article Oncology

Comparison of CDH1 Penetrance Estimates in Clinically Ascertained Families vs Families Ascertained for Multiple Gastric Cancers

Maegan E. Roberts et al.

JAMA ONCOLOGY (2019)

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Review Genetics & Heredity

Clinical spectrum and pleiotropic nature of CDH1 germline mutations

Joana Figueiredo et al.

JOURNAL OF MEDICAL GENETICS (2019)

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Review Genetics & Heredity

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Giovanni Corso et al.

JOURNAL OF MEDICAL GENETICS (2018)

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Article Oncology

Prognostic value of reduced E-cadherin expression in breast cancer: a meta-analysis

Zhan Li et al.

ONCOTARGET (2017)

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Review Genetics & Heredity

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

Rachel S. van der Post et al.

JOURNAL OF MEDICAL GENETICS (2015)

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Article Oncology

Hereditary Diffuse Gastric Cancer Syndrome CDH1 Mutations and Beyond

Samantha Hansford et al.

JAMA ONCOLOGY (2015)

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Review Oncology

E-cadherin germline mutation carriers: clinical management and genetic implications

Giovanni Corso et al.

CANCER AND METASTASIS REVIEWS (2014)

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Article Oncology

Somatic Mutations and Deletions of the E-Cadherin Gene Predict Poor Survival of Patients With Gastric Cancer

Giovanni Corso et al.

JOURNAL OF CLINICAL ONCOLOGY (2013)

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EGFR regulates RhoA-GTP dependent cell motility in E-cadherin mutant cells

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HUMAN MOLECULAR GENETICS (2007)

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Review Gastroenterology & Hepatology

E-cadherin in gastric cancer

Annie On On Chan

WORLD JOURNAL OF GASTROENTEROLOGY (2006)

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Review Cell Biology

The ins and outs of E-cadherin trafficking

DM Bryant et al.

TRENDS IN CELL BIOLOGY (2004)

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Article Biochemistry & Molecular Biology

E-cadherin germline missense mutations and cell phenotype: evidence for the independence of cell invasion on the motile capabilities of the cells

G Suriano et al.

HUMAN MOLECULAR GENETICS (2003)

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