Pathology & Oncology Research

, Volume 25, Issue 2, pp 811–814 | Cite as

Genetic Analysis of Brazilian Patients with Gallbladder Cancer

  • Cristina Sábato
  • Luciana Bastos-Rodrigues
  • Debora Chaves Moraes
  • Eitan Friedman
  • Luiz De MarcoEmail author
  • Vivian Resende
Letter to the Editor

To the Editor,

Gallbladder cancer (GBC) is a rare neoplasm with poor prognosis and overall survival [1]. Its underlying molecular pathogenesis remains largely elusive and the accumulation of multiple somatic genetic alterations as well as chronic inflammation associated with gallstone formation promotes epithelial dysplasia and progression to adenocarcinoma postulated [2, 3, 4].

It has been shown that some indigenous people and ethnic groups have higher incidence and mortality rates, with differences within the same country and some populations identified as high-risk groups for GBC development. The highest incidence rates are found in populations living west of the Andes, northern India and populations of American and Mexican Indians [1].

The potential association in genetically heterogeneous Brazilian GBC patients has not been previously reported. Based in a comprehensive study [4] and COSMIC database ( we investigated the contribution of TP53, KRAS,...



This work was partially funded by grants from Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq # 405053/2013-4) and Fundação de Amparo a Pesquisa de Minas Gerais (FAPEMIG # APQ-00220-14).

Compliance with Ethical Standards

This work was approved by the University Ethics Committee (CAAE-09135912.6.0000.5149).

Disclosure Statement

Nothing to disclose.


  1. 1.
    Bal MM, Ramadwar M, Deodhar K, Shrikhande S (2015) Pathology of gallbladder carcinoma: current understanding and new perspectives. Pathol. Oncol. Res. 21:509–525CrossRefGoogle Scholar
  2. 2.
    Jain K, Mohapatra T, Das P, Misra MC, Gupta SD, Ghosh M, Kabra M, Bansal VK, Kumar S, Sreenivas V, Garg PK (2014) Sequential occurrence of preneoplastic lesions and accumulation of loss of heterozygosity in patients with gallbladder stones suggest causal association with gallbladder cancer. Ann. Surg. 260:1073–1080CrossRefGoogle Scholar
  3. 3.
    Espinoza JA, Bizama C, García P, Ferreccio C, Javle M, Miquel JF, Koshiol J, Roa JC (2016) The inflammatory inception of gallbladder cancer. Biochim. Biophys. Acta 1865:245–254Google Scholar
  4. 4.
    Nakamura H, Arai Y, Totoki Y, Shirota T, Elzawahry A, Kato M, Hama N, Hosoda F, Urushidate T, Ohashi S, Hiraoka N, Ojima H, Shimada K, Okusaka T, Kosuge T, Miyagawa S, Shibata T (2015) Genomic spectra of biliary tract cancer. Nat. Genet. 47:1003–1010CrossRefGoogle Scholar
  5. 5.
    Bastos-Rodrigues L, Pimenta JR, Pena SD (2006) The genetic structure of human populations studied through short insertion-deletion polymorphisms. Ann. Hum. Genet. 70:658–665CrossRefGoogle Scholar
  6. 6.
    Serra S (2014) Precursor neoplastic lesions of the biliary tract. J. Clin. Pathol. 67:875–882CrossRefGoogle Scholar
  7. 7.
    Nagahashi M, Ajioka Y, Lang I, Szentirmay Z, Kasler M, Nakadaira H, Yokoyama N, Watanabe G, Nishikura K, Wakai T, Shirai Y, Hatakeyama K, Yamamoto M (2008) Genetic changes of p53, K-ras, and microsatellite instability in gallbladder carcinoma in high-incidence areas of Japan and Hungary. World J. Gastroenterol. 14:70–75CrossRefGoogle Scholar
  8. 8.
    Saetta AA (2006) K-ras, p53 mutations, and microsatellite instability (MSI) in gallbladder cancer. J. Surg. Oncol. 93:644–649CrossRefGoogle Scholar
  9. 9.
    Hanada K, Tsuchida A, Iwao T, Eguchi N, Sasaki T, Morinaka K, Matsubara K, Kawasaki Y, Yamamoto S, Kajiyama G (1999) Gene mutations of K-ras in gallbladder mucosae and gallbladder carcinoma with an anomalous junction of the pancreaticobiliary duct. Am. J. Gastroenterol. 94:1638–1642CrossRefGoogle Scholar
  10. 10.
    Bakos RM, Besch R, Zoratto GG, Godinho JM, Mazzotti NG, Ruzicka T, Bakos L, Santos SE, Ashton-Prolla P, Berking C, Giugliani R (2011) The CDKN2A p.A148T variant is associated with cutaneous melanoma in southern Brazil. Exp. Dermatol. 20:890–893CrossRefGoogle Scholar
  11. 11.
    Soufir N, Ribojad M, Magnaldo T, Thibaudeau O, Delestaing G, Daya-Grosjean L, Rivet J, Sarasin A, Basset-Seguin N (2002) Germline and somatic mutations of the INK4a-ARF gene in a xeroderma pigmentosum group C patient. J Invest Dermatol 119:1355–1360CrossRefGoogle Scholar

Copyright information

© Arányi Lajos Foundation 2018

Authors and Affiliations

  • Cristina Sábato
    • 1
  • Luciana Bastos-Rodrigues
    • 2
  • Debora Chaves Moraes
    • 1
  • Eitan Friedman
    • 3
    • 4
  • Luiz De Marco
    • 1
    Email author
  • Vivian Resende
    • 1
  1. 1.Department of SurgeryUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  2. 2.Department of NutritionUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  3. 3.The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical CenterTel-HashomerIsrael
  4. 4.Sackler School of MedicineTel-Aviv UniversityTel-AvivIsrael

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