What features of family history increase the likelihood that a woman will have a harmful mutation of BRCA1 or BRCA2? family history of breast, ovarian, and other BRCA1/BRCA2-related cancers family history of breast, ovarian, and fallopian tube cancer family history of other cancers associated with harmful BRCA1 or BRCA2 mutations family history of breast cancer in woman and prostate cancer in men Part C With regard to the results of genetic testing for BRCA1 and BRCA2 mutations, what is meant by a "positive result"? A positive result indicates that a person did not inherited an allele of BRCA1 or BRCA2 that contains a harmful mutation. A positive result indicates that a person inherited an allele of BRCA1 or BRCA2 and will develop cancer. A positive result indicates that a person inherited an allele of BRCA1 or BRCA2 but will not develop cancer. A positive result indicates that a person inherited an allele of BRCA1 or BRCA2 that contains a harmful mutation.
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These genes, when mutated, significantly increase the risk of developing breast and ovarian cancer, among others. Show more…
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The risk of developing breast and/or ovarian cancer is greatly increased if men or women inherit a deleterious (harmful) mutation in the BRCA1 gene, because a loss of heterozygosity (LOH) event can lead to cancer. The normal BRCA1 gene codes for a tumor suppressor. True or False? The following could lead to cancer in cells of a person who inherited a mutant copy of BRCA1? Provide explanation if possible. T/F The wild type allele of BRCA1 gene has a nonsense mutation near the start codon. T/F Chromosomal non-disjunction leads to loss of the chromosome with the BRCA1 wild type allele T/F Gene duplication of the BRCA1 wild type allele T/F Wild type BRCA1 allele is moved from euchromatin to heterochromatin T/F A loss of function mutation occurs in a repressor protein for the BRCA1 gene T/F A gain of function mutation makes a hyperactive wild type BRCA1 protein
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Question: Mutations in the tumor suppressor gene BRCA1 can lead to breast and ovarian cancer. A point mutation in the promoter of BRCA1 leads to less efficient translation of the BRCA1 protein. As a result, cells go into uncontrolled proliferation and form tumors. This mutation is most likely (Highlight Answer): A) Dominant Negative mutation B) Nonsense mutation C) Gain-of-function mutation D) Loss-of-function mutation Explain your answer:
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4a. (3 pts) Mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern. Based on Claudia's family history, explain why the genetic counselor said she had a fifty-fifty chance of inheriting the mutation. To explain your answer, assign the BRCA1 gene a letter for wild-type and mutant alleles. 4b. (1 pt) According to the National Cancer Institute, what is the lifetime risk for breast cancer in women with a BRCA1 mutation versus women without the mutation? 4c. (6 pts) Describe one advantage and one disadvantage of using direct-to-consumer genetic medical testing. 4d. (2 pts) What is meant by the term "previvor," and what measures did Claudia undertake to reduce her cancer risk?
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