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The genomic landscape of testicular germ cell tumours: from susceptibility to treatment.
(NATURE PUBLISHING GROUP, 2016-07-01)
The genomic landscape of testicular germ cell tumour (TGCT) can be summarized using four overarching hypotheses. Firstly, TGCT risk is dominated by inherited genetic factors, which determine nearly half of all disease risk ...
Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility.
(NATURE PUBLISHING GROUP, 2016-12-20)
Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ...
Genomic evolution and chemoresistance in germ-cell tumours.
(NATURE PUBLISHING GROUP, 2016-11-30)
Germ-cell tumours (GCTs) are derived from germ cells and occur most frequently in the testes. GCTs are histologically heterogeneous and distinctly curable with chemotherapy. Gains of chromosome arm 12p and aneuploidy are ...
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.
(AMER SOC HEMATOLOGY, 2016-11-10)
Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where ...