Legend Male Female Proband Deceased Cancer Breast, 62 Ovary, 49 Prostate, 52 Breast, 47 Breast, 44 ovary, 52 Divya Blateral breast, 40 Breast, 45 Ovary, 32
Divya is 32 years old. She has found a small lump in her left breast and decided to go to her GP for a check-up. Her GP examined her and asked whether terse was any family history of cancer. She said her sister had breast cancer and he mother had died of ovarian cancer. Divya said there were also cases of cancer within her extended family. The pedigree below shows 3 generations of Divya’s family. The GP analysed the pedigree and concluded there was likely to be an inherited mutation running through Divya’s family and immediately referred her for a mammogram and a biopsy of the lump. Tissue from the biopsy was set for gene testing. Part 1 What type of inherited cancer syndrome appears to be present in Divya’s family? Part 2 What is the name of the gene being tested for matrons and what gene class does it belong to? Part 3 Are inherited mutations in this gene loss of function, gain of function or silent? Would you expect an individual to inherit a mutation in both parental copies of this gene or in only one copy of the gene? Why? Part 4 Divya’s sister Neha under went genetic testing but was found to not have inherited the mutation. What explanation can you give for Neha’s cancer? What is the name given to individuals like Neha in familial dance pedigrees? Part 5 Divya’s cousin Rupinder developed bilateral breast cancer at age 40 but neither of Rupinder’s parents have developed cancer. What evidence is there to suggest Rupinder has a familial form of this cancer? Would you expect either of Rupinder’s parents to have the mutation if they don’t have cancer? Explain your answer.
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