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

• DOI: 10.1007/s10120-019-00945-9
• Publication Date: 2019-03-20T08:09:05Z
• Authors: Rodrigo Santa Cru...; Marina Cândido Vi...; Simone Maistro; Fátima Solange Pa...; Priscila Cristina...; Liliane dos Santos; Gláucia Fernanda ...; Geertruida Hendri...; Daniela Marques S...; Maria Lucia Hirat...; Sheila Friedrich ...; Adriana Safatle-R...; Ulysses Ribeiro J...; Maria Del Pilar E...; Ana Carolina Ribe...; Roger Chammas; Maria Aparecida A...
• Keywords: Surgical oncology

The contribution of CDH1 germline variants to gastric cancer burden among young adults is unknown in Brazil. We aimed evaluate the frequency and diet/lifestyle habits early age onset (EOGC, ≤ 55 years old) patients.From 2013 2015, a total 88 unrelated consecutive patients diagnosed with EOGC were enrolled. All exons intronic boundaries sequenced, large genomic rearrangements screened by MLPA. transcription analysis was performed for that could potentially induce an effect on splicing. diet lifestyle compared Brazilian population lifestyle, obtained from governmental databases.Of patients, mean at diagnosis 39 55% fulfilled criteria hereditary diffuse cancer. majority tumors (74%) poorly differentiated (80%). In total, 4 novel missense uncertain significance (VUS) identified: c.313T>A, c.387G>T, c.1676G>A, c.1806C>A. MLPA results revealed no interest inconclusive. had higher red (OR:2.6, 95%CI:1.4-4.9) processed (OR:3.1, 95%CI:1.6-6.0) meat intake fruit consumption (OR:0.4, 95%IC:0.3-0.7) eating population.No unequivocal pathogenic identified patients. Dietary may be associated development.