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

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art_GUINDALINI_Frequency_of_CDH1_germline_variants_and_contribution_of_2019.PDF (926.34 KB)
Citações na Scopus
9
Tipo de produção
article
Data de publicação
2019
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
SPRINGER
Autores
BOCK, Geertruida Hendrika de
Citação
GASTRIC CANCER, v.22, n.5, p.920-931, 2019
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
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.
Palavras-chave
CDH1, Diet, Hereditary diffuse gastric cancer, E-cadherin, Risk factors
URI
https://observatorio.fm.usp.br/handle/OPI/33484
Referências
  1. Adzhubei IA, 2010, NAT METHODS, V7, P248, DOI 10.1038/nmeth0410-248
  2. [Anonymous], SISV WEB
  3. Ascano JJ, 2001, MODERN PATHOL, V14, P942, DOI 10.1038/modpathol.3880416
  4. Bray F, 2018, CA-CANCER J CLIN, V68, P394, DOI 10.3322/caac.21492
  5. Brito LA, 2015, HUM MUTAT, V36, P1029, DOI 10.1002/humu.22827
  6. Brooks-Wilson AR, 2004, J MED GENET, V41, P508, DOI 10.1136/jmg.2004.018275
  7. Brunak S, 1991, J MOL BIOL
  8. Caldas C, 1999, J MED GENET, V36, P873
  9. Campos ECR, 2015, HEREDITARY DIFFUSE G
  10. Choi Y, 2012, PLOS ONE, V7, DOI 10.1371/journal.pone.0046688
  11. Corso G, 2012, BMC CANCER, V12, DOI 10.1186/1471-2407-12-8
  12. Corso G, 2011, EUR J CANCER, V47, P631, DOI 10.1016/j.ejca.2010.10.011
  13. Desmet FO, 2009, NUCLEIC ACIDS RES, V37, DOI 10.1093/nar/gkp215
  14. El-Husny A, 2016, GENET MOL BIOL, V39, P189, DOI 10.1590/1678-4685-GMB-2014-0342
  15. Fang XX, 2015, EUR J CANCER, V51, P2820, DOI 10.1016/j.ejca.2015.09.010
  16. Fitzgerald RC, 2010, J MED GENET, V47, P436, DOI 10.1136/jmg.2009.074237
  17. Gaston D, 2014, PLOS GENET, V10, DOI 10.1371/journal.pgen.1004669
  18. Guilford P, 1998, NATURE, V392, P402, DOI 10.1038/32918
  19. Guilford PJ, 1999, HUMAN MUT
  20. Hansford S, 2015, JAMA ONCOL, V1, P23, DOI 10.1001/jamaoncol.2014.168
  21. INCA, 2018, EST 2018 INC CANC BR
  22. Instituto Brasileiro de Geografia e Estatistica (IBGE), 2014, PESQ NAC SAUD 2013 P
  23. Instituto Nacional d, 2012, REL 2012
  24. Kaurah P, 2007, JAMA-J AM MED ASSOC, V297, P2360, DOI 10.1001/jama.297.21.2360
  25. Kupfer SS, 2017, GASTROENTEROLOGY, V152, P926, DOI 10.1053/j.gastro.2017.02.026
  26. Landrum MJ, 2014, NUCLEIC ACIDS RES, V42, pD980, DOI 10.1093/nar/gkt1113
  27. Melo S, 2017, INT J MOL SCI, V18, DOI 10.3390/ijms18122687
  28. Moreira-Nunes CA, 2014, HERED CANCER CLIN PR, V12, DOI 10.1186/1897-4287-12-18
  29. Ng PC, 2001, GENOME RES, V11, P863, DOI 10.1101/gr.176601
  30. Park JY, 2014, CLIN ENDOSC, V47, P478, DOI 10.5946/ce.2014.47.6.478
  31. Puculek Malgorzata, 2018, Oncotarget, V9, P31146, DOI 10.18632/oncotarget.25757
  32. Reese MG, 1997, J COMPUT BIOL
  33. Richards S, 2015, GENET MED
  34. RISINGER JI, 1994, NAT GENET, V7, P98, DOI 10.1038/ng0594-98
  35. Sahasrabudhe R, 2017, GASTROENTEROLOGY, V152, P983, DOI 10.1053/j.gastro.2016.12.010
  36. Schwarz JM, 2014, NAT METHODS
  37. Suriano G, 2005, CLIN CANCER RES, V11, P5401, DOI 10.1158/1078-0432.CCR-05-0247
  38. Suriano G, 2003, ONCOGENE, V22, P5716, DOI 10.1038/sj.onc.1206672
  39. Suriano G, 2003, HUM MOL GENET, V12, P575, DOI 10.1093/hmg/ddg048
  40. Suriano G, 2006, J MOL MED-JMM, V84, P1023, DOI 10.1007/s00109-006-0091-z
  41. Tavtigian SV, 2006, J MED GENE
  42. Theodoratou E, 2017, ANNU REV NUTR, V37, P293, DOI 10.1146/annurev-nutr-071715-051004
  43. Valente AL, 2014, HERED CANCER CLIN PR, V12, DOI 10.1186/1897-4287-12-17
  44. van der Post RS, 2015, J MED GENET, V52, P361, DOI 10.1136/jmedgenet-2015-103094
  45. Van Domselaar Fernando, 2007, Acta Gastroenterol Latinoam, V37, P158
  46. van Roy F, 2008, CELL MOL LIFE SCI, V65, P3756, DOI 10.1007/s00018-008-8281-1
  47. Vogelaar IP, 2012, HERED CANCER CLIN PR, V10, DOI 10.1186/1897-4287-10-18
  48. World Cancer Research Fund/American Institute for Cancer Research, 2016, FOOD NUTR PHYS ACT P
  49. Yeo G, 2004, J COMPUTAT BIOL

Coleções
Artigos e Materiais de Revistas Científicas - FM/MGT
Artigos e Materiais de Revistas Científicas - FM/MDR
Artigos e Materiais de Revistas Científicas - HC/ICESP
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/InRad
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