Posted: September 14th, 2015

Role of BRCA1 and BRCA2 genes in the development of breast cancer.

Linda is a 47-year-old Caucasian woman who enters the clinic with a request for genetic testing. Linda’s 50-year-old sister has just been diagnosed with breast cancer and her mother died of breast cancer at the age of 52. However, her father’s family has no history of cancer and most have lived well into their 90s.

Be prepared to answer questions that pertain to the following.

1. Assuming Linda is concerned about the BRCA1 and BRCA2 genes, explain the role that these genes play when mutated in the development of breast cancer.

2. Predict the likelihood that Linda has the defective gene.

3. Tumors rarely arise from the mutation of a single gene. What other types of genes are implicated in the development of cancer and how do they contribute to the uncontrolled proliferation of a cell.

4. Linda has her blood drawn for genetic testing. Messenger RNA (mRNA) was isolated from her blood cells and sequenced. Her mRNA results are then compared to the normal sequence in the DNA. (Remember, the

mRNA will be complementary to the DNA strand.) The results are as

follows:

Normal BRCA1 DNA: –

AGGAGTAGCTTCTTACCCAGGAACTTGACATGGGAA-

Linda’s BRCA1 mRNA: –

UCCUCAUCGAAGAAUGGGCCCUUGAACUGUACCCUU-

A. How many codons are represented in both sequences?

B. Is there a mutation in Linda’s BRCA1 mRNA? If yes, in which codon is it located? (Count from left to right.)

C. If a change is present what kind of mutation will it induce, i.e., silent, missense, frameshift or nonsense mutation

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