Research activity - 1) Study on the genetic susceptibility to cancer (humans)
 

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1a) The Pisan Large Association Study on Thyroid cancer (PiLASTer)

 
  We are currently running the PiLASTer (the Pisan Large Association Study on Thyroid Cancer). With the collaboration of the "Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro" we are collecting a large series of cases and controls.

We are currently establishing the DNA bank. Samples of peripheral blood are collected from patients affected by thyroid cancer. Healthy controls from the same hospital (Cisanello Hospital, Pisa, Italy) are collected as well. Additional controls (blood donors volunteers) from the nearby centers of Florence (Ospedale Careggi and Meyer, Firenze, Italy) are available. Other healthy controls are planned from other centers.

 
  We are aimed to establish a large case-control association study. A genome-wide association study (GWAS) is planned. The ethic committee (EC) and the internal revisory board (IRB) already approved the study. The study is carried out according to the Helsinki Declaration and the Italian laws on the privacy.

The DNA is extracted within 48 hours after sample collection. The DNA samples are stored at -20°C. Each volunteer gave the informed consent and filled in a questionnaire aimed to collect data on relevant covariates (sex, age, smoking habit, past exposure to ionizing radiations in the head-neck region, familiarity of cancer, familiarity of thyroid diseases, place of born, duration in that place, and place of residence).

At the present, over 2000 cases and 1500 controls have been collected and extracted. Click here if you want to get a summary picture of where volunteers are coming from. The P.I. participants to the study are listed below:

 

 
  Prof. Aldo Pinchera

Prof. Rossella Elisei

Dr. Cristina Romei

Prof. Stefano Landi

Prof. Federica Gemignani

Dr. Lisa Cancemi

Prof. Alfonso Cristaudo

Prof. Rudy Foddis

Dr. Alessandra Bonotti

Dr. Franco Bambi

Dr. Irene Spitaleri

Dr. Giovanni Pellegrini  
     
  Although we believe in GWAS, we have undertaken a series of small/medium-sized projects related to the genetic susceptibility to thyroid using several hypothesis-driven approaches in case-control association studies:

1) we are evaluating the role of genetic polymorphisms within the MAP-kinase circuitry in relation to the risk of thyroid cancer

2) we have selected a group of candidate genes (they must be reported in literature as either over- / under- expressed in malignant thyroid cells AND reported as somatically mutated in any human cancer, at least once) and we are evaluating the role of genetic polymorphisms within them in association with the risk of thyroid cancer.

3) we are evaluating the role of the polymorphisms Arg72Pro and PIN3 within TP53 onco-suppressor gene in relation to the risk of thyroid cancer

4) we are trying to confirm the role of genetic polymorphisms found associated with the risk of thyroid cancer in previous studies

 

 
     
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last update: 15/06/2009