Question

Answer in a few sentences: How can a germline mutation predispose someone to particular types of cancer? How is this similar/different to development of cancer in someone without any such germline mutation?

Answer 1

ANSWER:-

• Individuals with inherited mutation in tumor suppressor genes have a hereditary predisposition for certain cancers. Such individuals inherit a germline mutation in one allele of the gene from either of his parents.
• Somatic mutation of the second allele initiates tumor development. Such cancers constitute about 10% of human cancers.
• An example is Retinoblastoma occurs when both copies of the RB gene are inactivated by various types of lesions. This gene is located in the band q14 of human chromosome 13.
• In the inherited state of the disease, one parental chromosome carries a loss of function mutataion in the RB gene. A somatic mutataion in retinal cells that causes loss of the copyof the RB gene causes a tumor.

A normal individual has two wild type copies of the RB gene. In such individuals loss of both the RB alleles in the same retinal cell is required for transformation.

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