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Chunk #44 — Results — Genome doubling influences progression of ovarian carcinoma

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Absolute quantification of somatic DNA alterations in human cancer.
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We note that 13 of the 15 detected point mutations in the tumor suppressor NF1 occurred in the 93 ovarian samples that had not undergone genome doubling (P = 0.002; Fisher's exact test), and these mutations were uniformly homozygous (not shown). This is consistent with selection for recessive inactivation of NF1, a typical pattern for a tumor suppressor gene. It also suggests that non-genome-doubled ovarian carcinoma samples evolved via a distinct trajectory, rather than being precursors to doubled samples. If not, many NF1 mutations would be homozygous with multiplicity > 1 in doubled samples, as is seen for TP53.