C.3 For the retinal cancer retinoblastoma, the inheritance of one mutated copy of RBI from one of the parents is often referred to as a mutation that produces a
Define the “two
Explain why cancer is almost certain to develop with the inheritance of one mutated copy of RBI.
Using
What is the genotype of a normal cell in the retina in a person who has sporadic retinoblastoma? What is the normal cell genotype if the person has hereditary retinoblastoma? Explain the reason for the difference between the genotypes.
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Genetic Analysis: An Integrated Approach (3rd Edition)
- Describe how mutations in genome maintenance factors promote tumorigenesis. Why would inactivation of a mis- match repair gene cause colon cancer?arrow_forwardPatients with XP suffer extremely high incidence of skin cancer but have not been found to have correspondingly high incidences of cancer of internal organs (e.g. colon cancer). What might this suggest about the kinds of DNA damage responsible for most internal cancers?arrow_forwardExplain the molecular mechanisms of cancers caused by a P53 gene mutation.arrow_forward
- Loss of p53 function occurs in the majority of human tumors. Name two ways in which loss of p53 function contributes to a malignant phenotype. Explain how benzo(a) pyrene can cause loss of p53 function.arrow_forwardIn Metastatic Breast Cancer [such as in Breast Invasive Ductal Carcinoma; Breast Invasive Carcinoma, NOS; Breast Invasive Cancer, NOS; Invasive Breast Carcinoma; Breast Invasive Lobular Carcinoma; Breast Mixed Ductal and Lobular Carcinoma] what role does the genes Tp53 and Tp63 have? Would one of them affect the other (i.e. mutation, etc) or there is not relationship among the two genes at all.arrow_forwardWhich form of Retinoblastoma typically results in unilateral disease and exhibits 2-hit mutational kinetics?arrow_forward
- Acquired mutation in the p53 gene is the most common genetic alteration found in human cancer (> 50% of all cancers). A germline mutation in p53 is the causative lesion of Li- Fraumeni familial cancer syndrome. In many tumors, one p53 allele on chromosome 17p is deleted and the other is mutated. What type of protein is encoded by the p53 gene? (A) Caspase (B) DNA repair enzyme (C) Membrane cell adhesion molecule (D) Serine phosphatase (E) Telomerase (F) Transcription factor (G) Tyrosine kinasearrow_forwardTalk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.arrow_forwardWhich genetic cancer predisposition syndrome is caused by germ-line mutations in the p53 gene and is associated with the early onset of cancers and the development of multiple malignant lesions of diverse tissue origins?arrow_forward
- Explain why cell injury due to genetic causes are alarmingly increasing each year.?arrow_forwardRelatively few inherited forms of cancer involve the inheritance of mutant oncogenes. Instead, most inherited forms of cancer are defects in tumor-suppressor genes. Give two or more reasons why inherited forms of cancer seldom involve activated oncogenes.arrow_forwardSkin cancer carries a lifetime risk nearly equal to that of allother cancers combined. Following is a graph [modified fromK. H. Kraemer (1997). Proc. Natl. Acad. Sci. (USA) 94:11–14]depicting the age of onset of skin cancers in patients with orwithout XP, where the cumulative percentage of skin cancer is plotted against age. The non-XP curve is based on 29,757 cancerssurveyed by the National Cancer Institute, and the curverepresenting those with XP is based on 63 skin cancers from theXeroderma Pigmentosum Registry.arrow_forward
- Anatomy & PhysiologyBiologyISBN:9781938168130Author:Kelly A. Young, James A. Wise, Peter DeSaix, Dean H. Kruse, Brandon Poe, Eddie Johnson, Jody E. Johnson, Oksana Korol, J. Gordon Betts, Mark WomblePublisher:OpenStax College