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Woman with BRCA1 gene mutation delays preventive surgery to undergo IVF

The BRCA1 gene mutation has been in the news lately, ever since actress Angelina Jolie acknowledged having recently had a preventive double mastectomy after learning that she carries the BRCA1 gene mutation. According to the National Cancer Institute, about 12 percent of women in the general population will develop breast cancer sometime during their lives, and about 1.4 percent will develop ovarian cancer. However, women who carry the BRCA1 gene mutation have about a 70-80% lifetime risk of developing breast cancer, and 40-60% risk of developing ovarian cancer.

MailOnline recently profiled the story of Pat Dowd, a woman in her 40s who has the BRCA1 gene mutation. Pat has a family history of cancer – with both parents having been diagnosed with breast cancer – so she was not shocked when in July 2012 she learned that she had the BRCA1 gene mutation. However, she was surprised to learn that she inherited the gene from her father, not her mother. Pat says it’s important that people who have breast cancer on their fathers’ side of the family are aware that they are also at risk. Her gynecologist, Dr. Adam Rosenthal, echoes Pat’s recommendation and says:

“It is important women don’t ignore cancer history on their father’s side. A family history of cancer on either side should be discussed with their GP…”

To reduce her risk of breast cancer, Pat underwent a double mastectomy. She also had her fallopian tubes removed. However, contrary to the advice of her doctors, Pat has decided not to have her ovaries removed to eliminate the risk of ovarian cancer, in the hope that she might have a child through IVF, using her own eggs. She is also considering using pre-implantation genetic diagnosis, which would involve selecting and transferring only embryos that do not carry the BRCA1 gene mutation. Without this technology, her children would have a 50% chance of carrying the gene mutation.

Read a factsheet on the BRCA1 & BRCA2 genes here. 

Read more about cancer and fertility here. 

Read more about pre-implantation genetic diagnosis here and here.

Read more about Pat’s story here.

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