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Posts with tag discovered

1600 year old cancer gene discovered in Scotland

1600 years ago, about 400AD, an inherited form of melanoma began from a genetic mutation that occurred in a single ancestor, according to Glasgow University researchers who traced the genetic mutation back 88 generations. Upon further investigation, a number of Scottish families, presently living in Scotland, as well as Australia, Canada and America, were found to carry the specific genetic mutation that puts them at an increased risk for a certain type of melanoma.

According to the researchers, one in ten patients diagnosed with melanoma have a strong family history of the disease and between 20 to 40 percent of those patients carry a high-risk faulty gene known as CDKN2A. The Scottish mutation in this gene is known as M53I. With these genetic discoveries, there is hope that gene therapy can be developed to repair damaged genes in cancer cells.

Sunday Seven: Seven not-so-fun, oh-so-necessary rituals

On Friday, I had my annual OB/GYN appointment. It's the appointment known by all women for (1) its blood pressure check and humbling weigh-in, (2) the pee-in-a-cup ritual, (3) the get naked and change-into-a-paper-dress routine, (4) the finger-stick-iron-check, (5) the clinical breast exam, (6) the manual internal pelvic exam, and (7) the ever popular feet-in-stirrups Pap test. It's all so uncomfortable, so not fun. Yet it's all so necessary.

It was a visit with my OB/GYN that resulted in my breast cancer diagnosis two years ago this month. It was the clinical breast exam that confirmed the hard little lump I had found in the shower the previous day. It's what prompted my emergency mammogram a day later. It's what sent me on the wildest ride of my life. It's what keeps me going back for repeat yearly visits -- because I know if something goes wrong with my female parts, this doctor is likely the one who will make the discovery. He is likely the one who will save me from a late diagnosis of something terrible, the doctor who will set the wheels in motion for whatever comes after something terrible is detected.

I know already that (1) my blood pressure and weight are normal, (2) my urine is normal, (3) the paper dress is so not flattering, (4) my iron is normal, (5) my breasts are normal, and (6) my ovaries and uterus feel normal. I am only waiting on (7) the results of my Pap test that will reveal any abnormalities in the tissue of my cervix. This is the one test that can save me from cervical cancer or detect the disease in a stage that is completely curable. It's one of the best cancer screening tests around -- and I plan to receive it every year, year after year -- even if I have not one ounce of modesty left when it's said and done.

It's not so bad really. I'm accustomed to the rituals of the annual exam. I know the drill, know I will survive it all, know it's all critical for maintaining my health. So it's good really. Good -- compared to what could happen if something went undiscovered.

Sunday Seven: Seven hidden treasures found through cancer

If I could go back in time, I would not repeat my journey with breast cancer. I would choose a different path -- one free of disease and treatment and the fear that comes with it all. I would choose the route where my children would never hear me say, "mommy has cancer." The route where there would be less worry about dying, less worry about how my kids would do without me, less worry about how all my loose ends would be tied up without me here to tie them. I would choose another direction in a heartbeat. But there are some things I do treasure about my trip down breast cancer lane -- some things I do not wish to give back, even if given the chance to choose a different path. They are the hidden treasures I discovered along the way, in the midst of a harrowing, sometimes horrendous battle. There are many treasures that have come my way -- and I'm sure there are more to come. Here are seven of my valuable finds.

Continue reading Sunday Seven: Seven hidden treasures found through cancer

Crippling emotion diminished by comfort of counseling chair

When I first started going to counseling, I was told I would need eight to 10 sessions of cognitive behavioral therapy to help me deal with my anxiety, my panic, my fear of breast cancer recurrence. My first session was in May 2005 -- and I am still going. Those initial sessions are possibly all I really needed -- and perhaps I could have stopped the therapy long ago. But stopping never came up and no one told me I had to call it quits so I kept on marching into territory I had never before traveled. I have a degree in counseling -- but I'd never been counseled. I know how to listen to others and share empathy and ask open-ended questions -- but I'd never been the one talking and sharing and venting and crying and answering questions. Until last May -- when I discovered the appeal and the comfort of the counseling chair.

I marched into one of my sessions yesterday and plopped into a brown faux leather recliner. I talked about my recent graduation from Herceptin therapy and about how I might manage in life now that treatment is over. I talked about my jobs -- as a writer and a preschool teacher -- and how they fit into my world. I talked about the level of stress in my days and about how my once constant fear that cancer was trailing me has largely diminished. I talked about how breast cancer is no longer my constant companion -- about how it is now just an acquaintance. And I talked about how counseling was once so necessary and about how it is now just a luxury that helps me maintain peace as I live forward.

I am not sure when I will stop going to counseling. But I'm not completely sure of much anymore. And I've learned from counseling to not really question the future -- to just live in the moment and to give thought primarily to the here and now. And right here, right now, I'm sticking with my sessions, my one hour every month, my comforting counseling chair.

New gene tied to added breast cancer risk

It is not yet clear how -- or if -- this will affect American women but a piece of the breast cancer puzzle has been located for Icelandic women. Scientists reported this week that women with a bad gene that raises their risk of breast cancer were almost certain to develop the disease if they also had a mutation of second gene. This gene -- BARD1 -- seems to add a large risk for these women.

Two genes -- BRCA1 and BRCA2 -- were discovered 10 years ago and account for 10-15 percent of total breast cancer cases. Scientists have been searching for other genes that act alone or with these two genes to raise the risk for breast cancer. BARD1 appears to be one of the genes they were looking for.  Women with a BARD1 mutation and also a BRCA2 mutation -- the  most common in Iceland -- have a 50 percent increase in risk. In the United States, BRCA1 is most common so the puzzle is not quite the same. So for the 213,000 American cases of breast cancer that will emerge this year -- making it the most common major cancer in women and the second leading cause of deaths in women -- it is uncertain if BARD1 will be significant. But the discovery of this gene will help unravel the mystery of breast cancer -- and that is a step in the right direction for sure.

Prostate cancer gene discovered

Researchers have discovered a specific genetic mutation in men, that when present, indicates the increase in the chance of developing an aggressive form of prostate cancer by 60 percent. This gene affects twice as many men of African American descent than it does men of European descent, which could explain why the incidence of prostate cancer is higher in African American men. Until now, the only established risk factors for prostate cancer have been age, family history and ethnicity. Scientists at deCODE genetics -- with academic colleagues in Iceland, the US and Sweden -- made the discovery of the genetic mutation which will alert physicians to the need for more aggressive treatment of prostate cancer for men with the gene. The study is published online at  Nature Genetics.

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