Bibliographies thématiques / CDH1 germline mutation

Littérature scientifique sur le sujet « CDH1 germline mutation »

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Publié le 11 mars 2023

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Articles de revues sur le sujet "CDH1 germline mutation"

Yanjun, Xu, Cao Wenming, Xu Qi, Guo Jianmin, Wang Xinbao, Cheng Xiangdong et Ying Jieer. « Searching for CDH1 gene mutations in early-onset diffuse gastric cancer in Chinese patients. » Journal of Clinical Oncology 32, n^o 3_suppl (20 janvier 2014) : 23. http://dx.doi.org/10.1200/jco.2014.32.3_suppl.23.

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23 Background: CDH1 germline mutations are found to be associated with the development of hereditary diffuse gastric cancer (HDGC) and the early-onset diffuse gastric cancer (EODGC). But the impact of CDH1 gene mutations and large deletions on HDGC and EODGC has not been fully determined in Asians. Although the incidence of gastric cancer is relatively high in China, the detection rate of CDH1 germline mutations in Chinese patients with EODGC is rare compared to that in European patients. Methods: We investigated the mutation status of the CDH1 gene in 57 Chinese EODGC patients younger than 40 years old who met the clinical criteria for HDGC. Polymerase chain reaction-direct sequencing was performed, and multiplex ligation-dependent probe amplification (MLPA) was used to evaluate the patients with negative sequencing results. Associations between mutation, clinicopathologic, and overall survival data were analyzed by SPSS 19. Results: The germline mutations of CDH1gene were identified in 51 (89.5%) of the 57 EODGC patients. The nonsense mutation in exon 13 (c.2200T>C, p.Ala692*) occurred in fourty-six EODGC patients. The missense mutations were detected in twenty patients (Eighteen in exon 5: c.778G>C, p.Glu218Asp; Two in exon 12: c.2012C>G, p.Leu630Val). No deletion or duplication in any patient. Most of the patients carrying the CDH1 mutation in exon 13 had lymph node metastasis when compared with patients lacking CDH1 mutation (87.2% vs 60.0%) ( P < 0.05 ). EODGC patients, lacking germline CDH1 alterations, showed a longer median overall survival (mOS) than patients carrying CDH1 mutation in exon 13 ( P < 0.05 ). Moreover, the presence of CDH1 mutation in exon 13 was associated with the incidence of neural invasion ( P < 0.05 ). Conclusions: This study reveals novel CDH1 mutations in Chinese EODGC patients which had been poorly investigated. The presence of CDH1 mutation in EODGC patients may result in lymph node metastasis and poor prognosis. More research is needed to determine additional genetic targets that trigger EODGC.

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Massari, Giulia, Francesca Magnoni, Giorgio Favia, Nickolas Peradze, Paolo Veronesi, Carlo La Vecchia et Giovanni Corso. « Frequency of CDH1 Germline Mutations in Non-Gastric Cancers ». Cancers 13, n^o 10 (12 mai 2021) : 2321. http://dx.doi.org/10.3390/cancers13102321.

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Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that CDH1 mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant CDH1 mutation affects the extracellular domain. Our data suggest that CDH1 genetic testing should be considered also in other cancers, especially breast tumors.

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Wang, Hai-Dan. « CDH1 germline mutation in hereditary gastric carcinoma ». World Journal of Gastroenterology 10, n^o 21 (2004) : 3088. http://dx.doi.org/10.3748/wjg.v10.i21.3088.

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Graziano, Francesco, Anna Maria Ruzzo, Italo Bearzi, Enrica Testa, Vittorio Lai et Mauro Magnani. « Screening E-Cadherin Germline Mutations in Italian Patients with Familial Diffuse Gastric Cancer : An Analysis in the District of Urbino, Region Marche, Central Italy ». Tumori Journal 89, n^o 3 (mai 2003) : 255–58. http://dx.doi.org/10.1177/030089160308900304.

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Aims & Background Hereditary diffuse gastric cancer is a recently defined cancer syndrome caused by inactivating, heterozygous germline mutations in the E-cadherin gene (CDH1). To date, 16 truncating germline CDH1 mutations have been described in hereditary diffuse gastric cancer families in different ethnic groups, but so far, no investigation has been addressed to Italian patients. In the District of Urbino, Region Marche, Central Italy, gastric cancer is the most common tumor in men and it is the second in women after breast cancer. In this area, we investigated CDH1 mutations in patients who fulfilled the hereditary diffuse gastric cancer criteria. Material and Methods Consecutive patients with diffuse gastric cancer were considered eligible for the study. After pedigree analysis, patients who met the International Gastric Cancer Linkage Consortium criteria were studied for CDH1 mutations. After blood samples collection and DNA extraction, standard polymerase chain reaction and sequencing techniques were used for CDH1 analysis. Results In a study population of 98 patients with diffuse gastric cancer, 11 patients (11%) showed familial clustering and 3 of them met the International Gastric Cancer Linkage Consortium criteria for hereditary diffuse gastric cancer. None of the 3 patients showed inactivating germline mutation in CDH1. Conclusions According to recent studies, the frequency of CDH1 inactivating germline mutations in patients who fulfil the hereditary diffuse gastric cancer criteria may be lower than that reported in early investigations. The results of the present study in a population of Italian patients seem to confirm these data. It is likely that unidentified mutations in CDH1 or other involved genes contribute to diffuse gastric cancer susceptibility.

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Figueiredo, Joana, Soraia Melo, Patrícia Carneiro, Ana Margarida Moreira, Maria Sofia Fernandes, Ana Sofia Ribeiro, Parry Guilford, Joana Paredes et Raquel Seruca. « Clinical spectrum and pleiotropic nature of CDH1 germline mutations ». Journal of Medical Genetics 56, n^o 4 (19 janvier 2019) : 199–208. http://dx.doi.org/10.1136/jmedgenet-2018-105807.

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CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is involved in major cellular processes such as embryogenesis and maintenance of tissue architecture, it is no surprise that deleterious effects arise from its loss of function. E-cadherin is recognised as a tumour suppressor gene, and it is well established that CDH1 genetic alterations cause diffuse gastric cancer and lobular breast cancer—the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that CDH1 mutations can be associated with lobular breast cancer and/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype–phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of CDH1-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin’s pleiotropic effects. Ultimately, this knowledge will impact genetic counselling and will be relevant to the assessment of risk of cancer development or congenital malformations in CDH1 mutation carriers.

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Masciari, S., K. A. Schrader, J. Senz, N. Tung, J. Balmana, A. R. Razzak, P. Miron, D. G. Huntsman et J. E. Garber. « Prevalence of CDH1 germline mutations in subjects with early onset or familial lobular breast cancer, a multicenter collaboration ». Journal of Clinical Oncology 27, n^o 15_suppl (20 mai 2009) : 11042. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.11042.

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11042 Background: Invasive lobular breast carcinoma (LBC) is part of the hereditary diffuse gastric cancer (HDGC) syndrome, associated with germline mutations in the E-cadherin (CDH1) gene. CDH1 mutations can be identified in 80% of families ascertained by DGC. The risk of DGC in CDH1 mutation carriers is 67% in males, and 83% in females; the estimated risk of LBC in women is 39–50% to age 80. Management of HDGC includes prophylactic gastrectomy. In this study, we estimated the prevalence of germline CDH1mutations among women with LBC who were either diagnosed at young age or had family history of breast cancer (BC). Methods: Germline DNA was collected from 383 women with LBC or mixed, lobular/ductal, BC from breast cancer programs, familial cancer clinics, and population-based cohorts. Germline BRCA1or BRCA2mutations carriers were excluded. Eligible women had (1) LBC before age 45 or (2) LBC at any age with at least two 1st or 2nd degree relatives with BC of any type. Denaturing high pressure liquid chromatography was undertaken, followed by direct sequencing of exons displaying changes. Results: At the time of submission 310 of 383 samples have been fully sequenced. One previously characterized missense mutation and four novel non-synonymous variants (1.6%) were found. Three of these women had LBC before 45 years and no family history of BC; two had BC family history. No gastric cancers were reported in these families. Functional assays to assess the pathogenicity of the variants are in process. Conclusions: These results confirm that CDH1 is responsible for a small proportion of familial and early onset LBC. Given the difficulty of identifying CDH1 mutations from BC history alone and the importance of managing the gastric cancer risk in CDH1carriers, these findings should underscore the need to obtain an accurate abdominal cancer family history from women with LBC. No significant financial relationships to disclose.

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Pandalai, Prakash K., Greg Y. Lauwers, Daniel C. Chung, Devanshi Patel et Sam S. Yoon. « Prophylactic total gastrectomy for individuals with germline CDH1 mutation ». Surgery 149, n^o 3 (mars 2011) : 347–55. http://dx.doi.org/10.1016/j.surg.2010.07.005.

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Corso, Giovanni, Giacomo Montagna, Joana Figueiredo, Carlo La Vecchia, Uberto Fumagalli Romario, Maria Sofia Fernandes, Susana Seixas et al. « Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation : A Multidisciplinary Clinical Review ». Cancers 12, n^o 6 (17 juin 2020) : 1598. http://dx.doi.org/10.3390/cancers12061598.

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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 identification of E-cadherin mutations in individuals without a positive family history of gastric or breast cancers. This observation motivated us to review and present a novel multidisciplinary clinical approach (nutritional, surgical, and image screening) for single subjects who present germline CDH1 mutations but do not fulfil the classic clinical criteria, namely those identified as—(1) incidental finding and (2) individuals with lobular breast cancer without family history of gastric cancer (GC).

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Corso, Giovanni, Federica Corso, Federica Bellerba, Patrícia Carneiro, Susana Seixas, Antonio Cioffi, Carlo La Vecchia et al. « Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer : A Systematic Review ». Cancers 13, n^o 6 (12 mars 2021) : 1269. http://dx.doi.org/10.3390/cancers13061269.

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Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited cancer predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current CDH1 genetic screening recommendations disregard an unbalanced worldwide distribution of CDH1 variants, impacting testing efficacy and patient management. In this systematic review, we collected and analyzed all studies describing CDH1 variants in gastric cancer patients originating from both high- and low-prevalence countries. Selected studies were categorized as family study, series study, and unknown study, according to the implementation of HDGC clinical criteria for genetic testing. Our results indicate that CDH1 mutations are more frequently identified in gastric cancer low-incidence countries, and in the family study group that encompasses cases fulfilling criteria. Considering the type of CDH1 alterations, we verified that the relative frequency of mutation types varies within study groups and geographical areas. In the series study, the missense variant frequency is higher in high-incidence areas of gastric cancer, when compared with non-missense mutations. However, application of variant scoring for putative relevance led to a strong reduction of CDH1 variants conferring increased risk of gastric cancer. Herein, we demonstrate that criteria for CDH1 genetic screening are critical for identification of individuals carrying mutations with clinical significance. Further, we propose that future guidelines for testing should consider GC incidence across geographical regions for improved surveillance programs and early diagnosis of disease.

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Pogodina, Jelena, Roberts Ribenieks, Dace Berzina, Genadijs Trofimovics et Edvins Miklasevics. « CDH1 Mutation in Two Patients with Hereditary Gastric Cancer ». Acta Chirurgica Latviensis 14, n^o 1 (24 novembre 2014) : 35–37. http://dx.doi.org/10.2478/chilat-2014-0107.

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Summary CDH1 is currently the only gene in which mutations are known to cause hereditary diffuse gastric cancer (HDGC). Hereditary diffuse gastric cancer is defined as a syndrome of inherited predisposition to cancer with autosomal dominant inheritance pattern. Specific criteria are used to identify patients with suspected HDGC and who should be investigated for CDH1 germline mutations. Accurate screening is mandatory for unaffected carriers ofCDH1 mutations and selected high-risk individuals could be considered for prophylactic gastrectomy.

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Chapitres de livres sur le sujet "CDH1 germline mutation"

Ferrara, Francesco, Giovanni Corso et Franco Roviello. « Prophylactic Total Gastrectomy in CDH1 Germline Mutation Carriers ». Dans Spotlight on Familial and Hereditary Gastric Cancer, 167–76. Dordrecht : Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-6570-2_14.

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Pinheiro, Hugo, Joana Carvalho et Carla Oliveira. « Alternative Mechanisms to Germline CDH1 Mutations in Hereditary Diffuse Gastric Cancer ». Dans Spotlight on Familial and Hereditary Gastric Cancer, 87–96. Dordrecht : Springer Netherlands, 2013. http://dx.doi.org/10.1007/978-94-007-6570-2_8.

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Actes de conférences sur le sujet "CDH1 germline mutation"

Hebbard, P., A. MacMillan, J. McCarthy, K. Laing, N. Wadden, J. Green, B. Fernandez, A. Kwan et D. Wirtzfeld. « Breast Cancer Events Associated with Germline Mutations of the CDH1 Gene (Hereditary Diffuse Gastric Cancer). » Dans Abstracts : Thirty-Second Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 10‐13, 2009 ; San Antonio, TX. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-09-904.

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