Chapter 13 Chromosome 13 DNA Sequence Chromosome 13

Chapter 13: Chromosome 13 DNA Sequence Chromosome 13 Name of Gene BRCA 2 84, 193 transcription m. RNA Name of Protein breast cancer 2, early Amino acid sequence onsetpr o translation What does this protein make up or do? may cause increased pressure in the eye by obstructing the aqueous outflow Condition/Disease Glaucoma

Description of BRCA 2 n Symptoms and characteristics Inherited mutations in BRCA 1 and this gene, BRCA 2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA 1 and BRCA 2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA 2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD 51 recombinase which functions in DNA repair. BRCA 2 is considered a tumor suppressor gene, as tumors with BRCA 2 mutations generally exhibit loss of

Description of BRCA 2. n Who is affected? Anyone, but the following have a higher risk: Lung cancer causes over 1 million deaths each year worldwide 1. Although primarily caused by tobacco smoking, studies have also implicated inherited genetic factors in the etiology of lung cancer; notably, genome-wide association studies (GWAS) in Europeans have consistently identified polymorphic variation at 15 q 25. 1

References http: //www. nature. com/ng/journal/v 46/n 7/full/ng. 3002. html n. https: //davidswart. wordpress. com/2015/03/02/