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

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Santa Cruz Guindalini, Rodrigo ^{[1, 2]} ; Visontai Cormedi, Marina Candido ^[1] ; Maistro, Simone ^[1] ; Pasini, Fatima Solange ^[1] ; Abduch Adas Branas, Priscila Cristina ^[1] ; dos Santos, Liliane ^[1] ; de Lima Pereira, Glaucia Fernanda ^[1] ; de Bock, Geertruida Hendrika ^[3] ; Saccaro, Daniela Marques ^[1] ; Hirata Katayama, Maria Lucia ^[1] ; Faraj, Sheila Friedrich ^[4] ; Safatle-Ribeiro, Adriana ^[4] ; Ribeiro Junior, Ulysses ^[4] ; Estevez Diz, Maria Del Pilar ^[1] ; Ribeiro Chaves de Gouvea, Ana Carolina ^[1] ; Chammas, Roger ^[1] ; Azevedo Koike Folgueira, Maria Aparecida ^[1]

Afiliação do(s) autor(es)

^[1] HCFMUSP, Ctr Invest Translac Oncol CTO, ICESP, Av Dr Arnaldo 251, 8th Floor, BR-01246000 Sao Paulo, SP - Brazil

^[2] Grp CAM, CLION, Salvador, BA - Brazil

^[3] Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen - Netherlands

^[4] HCFMUSP, ICESP, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: GASTRIC CANCER; v. 22, n. 5, p. 920-931, SEP 2019.
• Citações Web of Science: 0

Resumo

Introduction 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. Methodology 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. Results 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. Conclusions No unequivocal pathogenic germline CDH1 variants were identified in Brazilian EOGC patients. Dietary habits may be associated with the EOGC development. (AU)

• Processo FAPESP: 12/11337-3 - Hábitos e condições sócio ambientais de pacientes adultos jovens com Câncer gástrico
• Beneficiário: Priscila Cristina Abduch Adas Branas
• Modalidade de apoio: Bolsas no Brasil - Iniciação Científica