Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

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ID: 1124
2019
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Abstract
The contribution of CDH1 germline variants to gastric cancer burden among young adults is unknown in Brazil. We aimed to evaluate the frequency of CDH1 germline variants and the diet/lifestyle habits in early age onset gastric cancer (EOGC, ≤ 55 years old) patients.From 2013 to 2015, a total of 88 unrelated and consecutive patients diagnosed with EOGC were enrolled. All CDH1 exons and intronic boundaries were sequenced, and large genomic rearrangements were screened by MLPA. CDH1 transcription analysis was performed for variants that could potentially induce an effect on splicing. The diet and lifestyle habits of EOGC patients were compared to Brazilian population diet and lifestyle, obtained from governmental databases.Of 88 patients, the mean age at EOGC diagnosis was 39 years and 55% fulfilled the criteria for hereditary diffuse gastric cancer. The majority of the tumors were diffuse (74%) and poorly differentiated (80%). In total, 4 novel missense variants of uncertain significance (VUS) were identified: c.313T>A, c.387G>T, c.1676G>A, and c.1806C>A. The MLPA results revealed no rearrangements and CDH1 transcription analysis for variants of interest were inconclusive. EOGC patients had a higher red (OR:2.6, 95%CI:1.4-4.9) and processed (OR:3.1, 95%CI:1.6-6.0) meat intake and higher fruit consumption (OR:0.4, 95%IC:0.3-0.7) compared to eating habits of the Brazilian population.No unequivocal pathogenic germline CDH1 variants were identified in Brazilian EOGC patients. Dietary habits may be associated with the EOGC development.
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guindalini2019frequency Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Guindalini, Rodrigo Santa Cruz;Cormedi, Marina Cândido Visontai;Maistro, Simone;Pasini, Fátima Solange;Branas, Priscila Cristina Abduch Adas;Dos Santos, Liliane;de Lima Pereira, Gláucia Fernanda;de Bock, Geertruida Hendrika;Saccaro, Daniela Marques;Katayama, Maria Lucia Hirata;Faraj, Sheila Friedrich;Safatle-Ribeiro, Adriana;Ribeiro Junior, Ulysses;Diz, Maria Del Pilar Estevez;de Gouvêa, Ana Carolina Ribeiro Chaves;Chammas, Roger;Folgueira, Maria Aparecida Azevedo Koike;
Journal gastric cancer : official journal of the international gastric cancer association and the japanese gastric cancer association
Year 2019
DOI
10.1007/s10120-019-00945-9
URL
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