Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocy...

Germline RBBP6 mutations in familial myeloproliferative neoplasms.

Ashot S. Harutyunyan, Roberto Giambruno, Christian Krendl, Alexey Stukalov, Thorsten Klampfl, Tiina Berg, Doris Chen, Jelena D. Milosevic Feenstra, Roland Jäger, Bettina Gisslinger, Heinz Gisslinger, Elisa Rumi, Francesco Passamonti, Daniela Pietra, André C. Müller, Katja Parapatics, Florian P. Breitwieser, Richard Herrmann, Jacques Colinge, Keiryn L. Bennett, Giulio Superti-Furga, Mario Cazzol...

No evidence of germline PTEN mutations in familial prostate cancer

Familial gastric cancer and germline mutations of E-cadherin.

BACKGROUND Most gastric cancer (GC) is sporadic and seem to be mostly related to a cumulative effect of multiple environmental factors. Although the actual importance of genetic factors has not yet been fully documented, GC with familial aggregation has been found to have an incidence of 10% to 30%. MATERIALS AND METHODS Genetic factors contribute to the well-known autosomal dominant syndrome...

Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer

Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the genes responsible for such cases can inform diagnosis and treatment for both hereditary and sporadic cases of gastric cancer. Mutations in the E-cadherin gene, CDH1, account for 40% of the most common form of familial gastric cancer (FGC), h...