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Researchers identify a founder mutation in patients with autonomic nervous system tumors

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Researchers identify a founder mutation in patients with autonomic nervous system tumors

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Thursday, 12.12.2013

 

A team of researchers from IPATIMUP and IPO-Porto discovered that a high frequency of paraganglioma (autonomic nervous system tumors) patients from northern Portugal harbored a germline mutation in the SDHB gene, classified as a founder mutation. This mutation was identical in all patients, indicating that it occurred in a single mutagenic event (in one individual) that took place several years ago, having been transmitted throughout generations and settled in the Portuguese population from northern Portugal.

This study involved a team from IPATIMUP that screened and classified the mutation as founder, as well as a team from IPO-Porto that followed the patients and classified the tumors and highlights the existent synergies between both institutions that were reflected in this article published in November in the journal «Endocrine-related cancer».

 

Authors and Affiliations:

  1. 1.Raquel Martins (IPO-Porto, Serviço de Endocrinologia)
  2. 2.Joana Nunes (IPATIMUP, Grupo de Biologia do Cancro)
  3. 3.Valdemar Máximo (IPATIMUP, Grupo de Biologia do Cancro)
  4. 4.Paula Soares (IPATIMUP, Grupo de Biologia do Cancro)
  5. 5.Joana Peixoto (IPATIMUP, Grupo de Biologia do Cancro)
  6. 6.Telmo Catarino (IPATIMUP, Grupo de Biologia do Cancro)
  7. 7.Teresa Rito (IPATIMUP, Grupo de Diversidade Genética)
  8. 8.Pedro Soares (IPATIMUP, Grupo de Diversidade Genética)
  9. 9.Luísa Pereira (IPATIMUP, Grupo de Diversidade Genética)
  10. 10.Manuel Sobrinho-Simões (IPATIMUP, Grupo de Biologia do Cancro)
  11. 11.Ana Paula Santos (IPO-Porto, Serviço de Endocrinologia)
  12. 12.Joana Couto (IPO-Porto, Serviço de Endocrinologia)
  13. 13.Rui Henrique (IPO-Porto, Serviço de Anatomia Patológica)
  14. 14.Joana Matos-Loureiro (IPO-Porto, Serviço de Anatomia Patológica)
  15. 15.Paula Dias (IPO-Porto, Serviço de Anatomia Patológica)
  16. 16.Isabel Torres (IPO-Porto, Serviço de Endocrinologia)
  17. 17.Jorge Lima (IPATIMUP, Grupo de Biologia do Cancro)

 

Journal:

Endocrine-Related Cancer

 

Link: http://erc.endocrinology-journals.org/content/20/6/L23.extract

 

 

 

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