Chapter Chapter 1313: : Chromosome Chromosome 1313

BCCIP

mRNA

transcription

translation

Amino acid sequence

Name of Protein

DNA Sequence

Name of Gene

Chromosome

What does this protein make up or do?it contains several copies of a 70 aa

motif called BRC Motif and these motif mediate binding to the RAD51

recombinase which function s in DNA REPAIR

Condition/Disease

BRCA2

13

11,385 bp

3418aa

may cause increased pressure in the eye by obstructing the aqueous outflow

Breast cancer

Description of GlaucomaDescription of Glaucoma Symptoms and Symptoms and

characteristicscharacteristicsItchy, scaly sore or rash on the Itchy, scaly sore or rash on the nipple of the breast and nipple of the breast and swelling ,warmth, redness or swelling ,warmth, redness or darkening of the breast. Dimpling or darkening of the breast. Dimpling or puckering of the skin of the breast puckering of the skin of the breast 1.1.The body system affected is the The body system affected is the breast.breast.

2.2.Screening tests (such as yearly Screening tests (such as yearly mammograms) are given routinely to mammograms) are given routinely to people who appear to be healthy and people who appear to be healthy and are not suspected of having breast are not suspected of having breast cancer. cancer.

Normal Vision

As viewed by a person with glaucomaPictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of Glaucoma Description of Glaucoma (cont.)(cont.)

Who is affected?Who is affected? Anyone, but the following have a higher Anyone, but the following have a higher ririsk.sk. Breast cancer is much more common in women than in men . Breast cancer is much more common in women than in men . People who have inherited mutation in certain genes like BRCA2 People who have inherited mutation in certain genes like BRCA2

and BRCA1 are at high risk of getting breast cancer .and BRCA1 are at high risk of getting breast cancer . White woman are silently more likely to get breast cancer than White woman are silently more likely to get breast cancer than

African American women .Africa American women though are more African American women .Africa American women though are more likely to die of breast cancer .likely to die of breast cancer .

Outlook or quality of lifeOutlook or quality of life Without treatment, you can die and go bald. Without treatment, you can die and go bald. With treatment, you will get a life support to live longer.With treatment, you will get a life support to live longer. Treatments include medicine , Chemotherapy, radiation therapy Treatments include medicine , Chemotherapy, radiation therapy

and surgery .radiation therapy.and surgery .radiation therapy.

ResearcherResearcher: CA: CA

                              

Radiation therapy                               

Radiation therapy

ReferencesReferences National Comprehensive Cancer Network. NCCN National Comprehensive Cancer Network. NCCN

Clinical Practice Guidelines in Oncology: Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 4;2013.2. Ovarian. Version 4;2013.2. 2.2. Pal T, Permuth-Wey J, Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma account for a large proportion of ovarian carcinoma cases. cases. CancerCancer. 2005;104(12):2807-2816. . 2005;104(12):2807-2816. 33 National National Cancer Institute. BRCA1 and MRCA2: Cancer risk Cancer Institute. BRCA1 and MRCA2: Cancer risk and genetic testing. and genetic testing. http://www.cancer.gov/cancertopics/factsheet/Risk/http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed June 2, 2014.BRCA. Accessed June 2, 2014.

http://ghr.nlm.nih.gov/gene/BRCA2 National Center for Biotechnology Information, ,

U.S. National Library of Medicine 8600 Rockville 8600 Rockville Pike, Bethesda MD, 20894 Pike, Bethesda MD, 20894 USAhttp://www.ncbi.nlm.nih.gov/protein/?USAhttp://www.ncbi.nlm.nih.gov/protein/?term=BRCA2%20Geneterm=BRCA2%20Gene

.