Evidence of tumor microsatellite instability in gastric cancer with familial aggregation |
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Authors: | Corrado Pedrazzani Giovanni Corso Sérgia Velho Marina Leite Valeria Pascale Francesca Bettarini Daniele Marrelli Raquel Seruca Franco Roviello |
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Institution: | (1) Department of Human Pathology and Oncology, Unit of Surgical Oncology, University of Siena, Policlinico ‘Le Scotte’, 53100 Siena, Italy;(2) Istituto Toscano Tumori (ITT), Prato, Italy;(3) Research Group of Cancer Genetics, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal |
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Abstract: | About 90% of gastric cancer (GC) cases appear in a sporadic setting. Nonetheless, in high incidence areas high familial aggregation
rates have been recently described. Microsatellite instability (MSI) is thought to be an important molecular phenotype both
in sporadic GC and in tumors of the HNPCC spectrum. The aim of this study was to assess the frequency of MSI in GC with familial
aggregation. Five quasimonomorphic mononucleotide repeats (BAT-26, BAT-25, NR-24, NR-21 and NR-27) were analyzed in 250 GC
patients. Seventy-five patients (30%) had at least one-first-degree family member affected by GC and 63 patients (25.2%) showed
MSI. The frequency of MSI was significantly higher in patients with a positive family history of GC (38.7%) compared to patients
with other tumor types within the family (15.7%) or with a negative oncological familial history (21.9%, P = 0.004). Within cases with a positive familial oncological history, the MSI frequency in families with GC only was similar
to the one observed in families with GC and colon cancer (P = 0.96). Nonetheless, in families with GC and lung cancer, the frequency of MSI was significantly lower (5.6%, P = 0.007). MSI occurs in GCs with familial aggregation. Similar MSI rates have been observed in GC patients with other family
members affected by GC or colon cancer. The same does not occur in families with other members affected by lung cancer. Our
data seem to suggest that familial aggregation for either GC alone or gastric and colon cancer share common etiological factors
in contrast to families with gastric and lung cancers.
C. Pedrazzani and G. Corso are contributed equally. |
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Keywords: | Gastric cancer Family history Microsatellite instability |
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