How many of the mutations listed below would lead to excessive cell growth when the cell was either homozygous or heterozygous for the mutation? Increased expression of Myc Constitutively active Rad50/51 A null mutation in Rb Continuous production of cyclin that activates CDK A BRCA1 mutation that prevents phosphorylation of BRCA1 by CDK A BRCA1 mutation that causes the production of BRCA1 that acts as if it is always phosphorylated by CDK

Human Anatomy & Physiology (11th Edition)
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Chapter1: The Human Body: An Orientation
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BRCA1 is mutated in a large percentage of hereditary breast and ovarian cancers. BRCA1 protein serves as a key enzyme in repairing DNA double-strand breaks. More than 800 mutations in the BRCA1 are clinically significant. This collection of mutations include missense mutations, small deletions, and large rearrangements that result in a protein with reduced function or no protein product.

BRCA1 functions by interacting with a variety of proteins, such as Rb, Myc, cyclin-dependent kinase (CDK), and Rad50/51. Rb is important for cell cycle arrest; Myc is a transcription factor that activates genes required for cell proliferation; activated CDK promotes cell cycle progression; and Rad50/51 proteins facilitate repair of DNA double-strand breaks.

How many of the mutations listed below would lead to excessive cell growth when the cell was either homozygous or heterozygous for the mutation?

  • Increased expression of Myc
  • Constitutively active Rad50/51
  • A null mutation in Rb
  • Continuous production of cyclin that activates CDK
  • A BRCA1 mutation that prevents phosphorylation of BRCA1 by CDK
  • A BRCA1 mutation that causes the production of BRCA1 that acts as if it is always phosphorylated by CDK
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