PALB2 as a familial gastric cancer gene: is the wait over?
A partir d'échantillons sanguins prélevés sur 39 participants de 22 familles ne présentant pas de variants du gène CDH1 (28 patients atteints d'un cancer diffus de l'estomac de type héréditaire et 11 parents au premier degré), cette étude de séquençage de l'exome entier identifie des gènes de prédisposition à la maladie
Gastric cancer is the third leading cause of cancer-related mortality, accounting for more than 730 000 deaths worldwide each year. The prognosis of patients with gastric cancer is dismal because most gastric tumours are diagnosed in late stages when 5-year survival is less than 20%. Whereas gastric tumours with intestinal histologies are linked to a history of Helicobacter pylori-associated gastritis, the natural history of diffuse gastric cancers is less well understood. New tools for the prevention and early detection of early gastric cancer are needed to improve survival outcomes. Around one in ten patients with gastric cancer report a family history of malignancy, suggesting an underlying genetic predisposition. Thus, genetic information could be used for gastric cancer prevention.