Using pedigress in the hunt for BRCA1, Mary-Claire King
Interviewee: Mary-Claire King. Mary-Claire King talks about the value of using the centuries-old tool of family pedigrees to gain insight into patterns of inheritance of genetic disorders. (DNAi Location: Applications > Genes and medicine > Gene hunting > Families and pedigrees)
Finding BRCA1 and BRCA2 has relied critically on families who have suffered a great deal of breast and ovarian cancer, being willing to participate in the project. Here is an example. This is a pedigree of a family with whom we've worked for a long while. On this pedigree or family tree, circles represent women, squares represent men, and filled symbols represent cancer. So this is a woman with breast cancer in her forties, a woman with breast cancer at thirty who died of her breast cancer, that's the line through the symbol. This woman and her sister with breast cancer have two other sisters who have still had no cancer, thus far. The mutation in this family must have been inherited through the father, here, who had prostate cancer when he was eighty, because there are so many other relatives through the father, with breast and ovarian cancer, many. This woman and her daughter were concerned for the sake of the grand-daughters about the mutation that might be responsible for breast and ovarian cancer in the family. We have been able by working with this entire family, 150 people in the family, over a long period of time, to sort it out. So now this sister knows that despite all of the breast and ovarian cancer in the family, that she has a completely normal BRCA1 and BRCA2 sequence, she does not share the BRCA1 mutation that was inherited by her two sisters and by this niece, and by all these other breast and ovarian cancer patients. This woman needs to now decide if she wants to find out as well, she has a 50-50 chance of having inherited the family's BRCA1 mutation.
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Mary-Claire King reflects on how knowledge gained from the identification of BRCA1 and BRCA2 could lead to improved cancer treatments.
Mary-Claire King talks about testing for breast cancer.
Mary-Claire King speaks about how much was yet to be understood about the genetic mechanisms of cancer when she began her hunt for genes associated with breast cancer.
Mary-Claire King talks about her first steps toward finding the gene responsible for certain kinds of inherited breast cancer.
Tests are available to detect certain mutations in the BRCA1 and BRCA2 genes.
BRCA1, on chromosome 17, is one of the genes associated with hereditary breast cancer.
Matt Ridley talks about chromosome 13, BRCA2 gene for breast cancer susceptibility.
Mark Skolnick talks about the hunt for BRCA1.
MARY-CLAIRE KING (1946- )
Mary-Claire King talks about the search for a bit of DNA that would shed light on why some members of a family developed cancer while others did not.