Gene Sequences and Human Diseases

Breast Cancer (BRCA 1 gene) Breast cancer is asymptomatic of breast cells growing out of control. These cells grow into malignant or benign tumors. It is important to note that, not all tumors are cancerous; they are only termed as cancerous if they invade surrounding tissues. Malignant tumors are invasive of the neighboring cells and tissues. The touch of an affected breast will have a feeling of a lump. African women are at a lower risk in comparison to the white women in contracting breast cancer, however, the former have tumors that are more aggressive once they contract than women of the latter race. Alcohol, obesity, and exposure to radiations on the chest are other breast cancer triggers. BRCA 1 is the breast cancer susceptibility gene.

Its predominant allele works to suppress the tumors that may end up invading other tissues to become breast cancer. BRCA 1 in combination with other protein elements forms a BRCA1-associated genome surveillance complex that is vital in carrying out routine DNA repairs of transcriptional regulation, ubiquitination among other essential functions. A lump in the breasts upon touch or screening is a worrying sign that should necessitate further tests to ascertain whether it’s a malignant or benign tumor. Other important signs to watch include dimpling or skin irritation, swelling of the breast either wholly or partly, pain in the nipples, nipple discharge and reddening of the breast skin. Research breakthroughs have it that tumor breakaways enter the bloodstream as circulating tumor cells (CTCs), which means it, is now possible to detect breast cancers via laboratory tests.

However, the test is limited when it comes to predicting the recurrence after treatment as well as longevity of life of the patient. New Radiology imaging techniques are being advanced and adapted specifically for breast cancer. Ampulla cancer involves malignant tumors growing from the ampulla, the junction between the pancreatic and bile ducts. Endocrine tumors, on the other hand, affect the islets of Langerhans and are less common accounting only for 5% of all the pancreatic tumors. Pancreatic cancers affect both genders though it is slightly skewed to men as more men are diagnosed with pancreatic cancer compared to the number of women. Studies have also shown that diabetics are at a higher risk of contracting the disease than those who are non-diabetic.

This may be explained by the fact that diabetes is related to blood sugar and pancreas is largely responsible for the production of the insulin hormone that controls the sugars. Ras protein as an agent of transduction involves signal transmission between the cells and its nucleus. The transduction pathway activation triggers kinase protein pathway activation for a successful signal transmission, and upon this, protein receptors will act to stop the process through Guanine nucleotide exchange. However, a mutation of the Ras protein may occur and when this happens the pathway will remain open because the mutation lowers the GTPase activity necessary for effective communication. This will render the Ras protein less sensitive to GTPase-accelerating proteins and by extension its functionality of controlling cell growth and cell differentiation.

The next thing will be unregulated cell growth that turns into cancerous cells and hence pancreatic cancer Early stages of pancreatic cancer have almost no symptoms. Other ongoing tests are focusing on whether proteins in the blood from pancreas can help in detection and treatment. There are also many works focusing on treatment using radiotherapy and chemotherapy as well as in developing drugs that target tissues supporting the growth of cancerous cells in the pancreas. Even with these key advances, the treatment of the disease still faces some challenges. Imaging tests and genetic tests are not recommended for patients with average risks because they can trigger other ailments. The selective surgery though the best treatment option is still a difficult process compared to the standard operation.