Question

Discuss how fusion genes can originate from chromosomal breaks, and how these fusion genes can lead to cancer.

(b) Within your answer, please discuss in detail the genotype, and how this leads to the phenotype of breast cancer

(c) What genetic screening technique can be used to assess this disorder.

Answer 1

structural rearrangement of the genome such as a deletion, inversion, tandem duplication, or translocation leads in to formation of fusion gene that results in the joining of two unrelated genes.They lead to chimeric transcripts or to deregulation of genes through closeproximity of novel promoter or enhancer regions.For example in breast cancer two genes that both have roles in transcription, such as the ESR1-YAP1 driver fusion in breast cancer.This will lead in to phenotype in breast cancer.

• The genetic screen technique used to assess the desease is BRCA gene test .