Tuesday, October 23, 2012

Rare gene prompts daughters to pursue mastectomies ? even ...

The decision to not have a double mastectomy more than 20 years ago may have saved the lives of Nancy Overcash?s children.

Overcash, of Mooresville, was diagnosed with breast cancer in 1991 and underwent a single mastectomy, followed by chemotherapy and reconstructive surgery. At the time, her doctor didn?t recommend a double mastectomy since no cancer was detected in her other breast.

But after running tests again last April, doctors did find a lump. But that alerted the family to an even more worrisome situation ? the existence of a mutant hereditary gene, which is linked to greatly increased chances of breast and ovarian cancer.

?I had a pain in my breast that started last year and just kept getting worse and worse,? said Overcash. ?Nothing was detected in my self-exams or by a doctor, and all four mammograms I had came back clear. They couldn?t see anything but the pain kept getting worse. Finally, my oncologist felt I needed an ultrasound and sure enough, there was a lump attached to my chest wall.?

Because of Overcash?s history with breast cancer, she was immediately given an MRI and a biopsy, which confirmed that she had breast cancer.

?I was told I needed chemotherapy to shrink the tumor before they could do surgery because of its size,? she said, and added that the tumor was the size of a large grape. ?I also found out that this type of cancer is more aggressive and is likely to spread. I had 21 lymph nodes taken out, a CAT scan and a bone scan, and they all came back clear, which was a relief.?

However, doctors told Overcash that she should go in for genetic testing to check for to check for BRCA1 and BRCA2 mutations. According to www.cancer.gov, a woman?s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.

?Such a woman has an increased risk of developing breast and/or ovarian cancer at an early age (before menopause) and often has multiple, close family members who have been diagnosed with these diseases,? said the site. ?Harmful BRCA1 mutations may also increase a woman?s risk of developing cervical , uterine, pancreatic, and colon cancer and harmful BRCA2 mutations may additionally increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma.?

Overcash was discovered to have a BRCA2 mutation and immediately called her daughters, sisters and nieces to have them get tested. Daughters Alana Morton, 38, and Holly Herring, 33, tested positively for the mutated gene, and Kaylee Overcash, 24, is awaiting her test results.

With the mutation, the chances of getting breast cancer increase dramatically -- up to 80 percent -- and the risk of ovarian cancer, which is difficult to detect until it is advanced, also rises sharply.

?The gene mutation is passed down through family members and if you don?t have it, you can?t pass it,? said Overcash. ?I?ve had relatives on both my mother and father?s sides that have passed from breast and ovarian cancer, so it could be either of my parents that gave it to me.?

Preventative treatment for the gene mutation can include increased surveillance (meaning mammograms and MRIs once a year and pap smears, ultrasounds and blood work every six months), chemoprevention (taking the drug tamoxifen for decreased chances of breast cancer), taking oral contraceptives for decreased risk in ovarian cancer (which is not recommended at the same time as chemoprevention) and prophylactic surgery, or a double mastectomy.

After learning she was positive for the gene mutation, Herring, a hospice and palliative care nurse in Florida with three young boys, immediately made an appointment for a double mastectomy.

?In my mind, even before the results were back, I had already prepared that it was more than likely that I had the gene, so I researched my options,? she said. ?I?m not saying what I chose to do is for everyone, but you have to do what you feel is appropriate for you and your family.

?I didn?t want to go through what my mother went through when she was 37, and as a palliative care nurse I see what chemo does to people. I have three kids and I have to think about being there for them. I won?t die without my breasts, but I could die if I keep them.?

For Herring, it has been five weeks since surgery, and she says she is healing beautifully. She is currently undergoing reconstructive surgery.

Her sister, Alana, said she wasn?t looking forward to it, but chose the same option for similar reasons. She plans to have surgery next year.

?I have small children and in my opinion, it would be irresponsible not to prevent something like cancer when I have that option,? Morton said. ?I feel like I need to be proactive. Unfortunately, when my girls get older, they?re going to have to be tested and if they?re positive, they?ll have tough decisions to face as well.

?At least we all know that it?s a possibility and by the time they get old enough to worry about it, medicine will have advanced and they might have new options.?

Some family members have said they feel what the girls are doing is ?drastic? as they don?t have cancer yet, but Herring disagrees.

?The odds are stacked against me,? said Herring. ?Screenings just let you know that you have cancer earlier; it doesn?t prevent the cancer from happening. I want to live a long, healthy life and be the best mom I can be. With our family history and learning about this gene, I don?t want to risk it.?

Overcash underwent her second mastectomy on Oct. 19 and is unsure of whether she needs radiation just yet. She said at first, she was upset knowing had she underwent a double mastectomy, she would have avoided having cancer a second time, but then realized it was ?a blessing in disguise.?

?Without having cancer again, I would have never known about the gene and couldn?t have had my daughters tested,? she said. ?They might have ended up with the same fate as me.?

For anyone with a significant family history of breast and ovarian cancer, Overcash highly recommended having the gene testing.

?If you know that you have lost loved ones to breast or ovarian cancer, it?s best to know for sure and get the testing,? she said. ?If you don?t, I feel like it?s playing Russian Roulette or waiting on a ticking time bomb. You can be young or old and get cancer with this gene; I?ll tell you that at any age, you don?t want it.?

Source: http://www2.mooresvilletribune.com/news/2012/oct/22/rare-gene-prompts-daughters-pursue-mastectomies-ev-ar-2715245/

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