MedWorm provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest medical blog items that have been tagged with 'gene mutation'. Sat, 03 Sep 2011 02:22:03 +0100 http://www.medworm.com/index.php?rid=3946452&cid=t_149954_87_f&fid=39187&url=http%3A%2F%2Fgetbetterhealth.com%2Fjamas-breast-and-ovarian-cancer-article-getting-the-facts-straight%2F2010.09.08 Journalist Andrew Holtz has been a colleague for longer than probably either one of us wants to remember. He is currently one of our story reviewers on HealthNewsReview.org. In fact, he was one of the reviewers on four stories we analyzed last week on the same study. He thought there were some important take-home messages that rose above the walls of our formal systematic review, so he wrote this guest blog post, and we thank him for it: The Sept. 1 issue of the Journal of the American Medical Association included an article that is likely to have a strong influence on the advice given to women who have a very high risk of breast and ovarian cancer linked to mutations of the BRCA1 and BRCA2 genes. Of the four stories we reviewed, only the AP report scored well on our review criteria. I kno... Better Health blogs http://www.medworm.com/rss/comments.php?id=3946452 Wed, 08 Sep 2010 21:00:38 +0100 3946452 http://www.medworm.com/index.php?rid=3790886&cid=t_149954_136_f&fid=37846&url=http%3A%2F%2Fhealthinfoispower.wordpress.com%2F2010%2F07%2F26%2Fyale-identifies-kras-gene-variant-in-ovarian-cancer-patients-with-non-brca-family-history-of-breastovarian-cancer%2F A team of Yale researchers have identified a genetic marker that can help predict the risk of developing ovarian cancer, a hard to detect and often deadly form of cancer. A team of Yale researchers have identified a genetic marker that can help predict the risk of developing ovarian cancer, a hard to detect and [...] (Source: Libby's H*O*P*E*) Libby's H*O*P*E* blogs http://www.medworm.com/rss/comments.php?id=3790886 Tue, 27 Jul 2010 05:00:00 +0100 3790886 http://www.medworm.com/index.php?rid=3052345&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fbeating-cancer-is-a-family-affair%2F This Thanksgiving I did something a little different; I went to Canada to see family. Although they had already had their feast last month, it was really nice to have the time with them. Sister was a little under the weather and hasn’t been sleeping well lately. I think there is a lot going on with her since the hysterectomy to reduce her risk for ovarian cancer. As a BRCA carrier she has taken steps to address her risks for breast and other cancers due to the gene mutation. I have to say I worry about her. I also got to see my niece and her new baby. Nicole also tested positive for the BRCA II gene mutation and having her babies in her twenties is something we have heard can help reduce her risk. More importantly, once she has had all her children she can turn her efforts to other w... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=3052345 Wed, 02 Dec 2009 21:53:39 +0100 3052345 http://www.medworm.com/index.php?rid=2920415&cid=t_149954_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2F0esKTEQkzKA%2F Scientists found a tiny mutation on a key gene that could potentially lead to type 1 diabetes, rheumatoid arthritis, lupus and celiac disease and many autoimmune diseases. The interleukin-21 protein has been associated with the development of type 1 diabetes in mice. Scientists from the Garvan Institute in Sydney, Australia discovered that mice carrying the mutation spontaneously developed type 1 diabetes. When the mice DNA were sequenced they found a mutation, only two base pairs of DNA long, on the promoter region of IL-21 gene. Dr Cecile King, PhD student Helen McGuire and their colleagues then inserted the mutated DNA segment into a healthy IL-21 gene and observed that more IL-21 molecules were produced. When the gene segment was removed, production of the IL-21 slowed down. “Our... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2920415 Fri, 23 Oct 2009 04:32:20 +0100 2920415 http://www.medworm.com/index.php?rid=2912374&cid=t_149954_131_f&fid=34989&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FGeneticsHealth%2F%7E3%2FwfK90aoXZSQ%2F This is such a cool application of genetics! By sequencing all the genes of a patient, scientists diagnosed a congenital disease that could not be identified using clinical observations. Because of the “molecular diagnostics technique”, doctors were able to provide a treatment tailored for the disease.   The patient, an infant, was persistently dehydrated and failing to gain weight, and researchers uncovered a gene mutation that was responsible to the infant’s condition called congenital chloride diarrhea. Instead of sequencing all the thousand base pairs in a genome, researchers focused only on DNA that encodes proteins, about 1% of the total genome. DNA mutations in this region can result in a nonfunctional protein, and would have far-ranging effects on health. According to H... Genetics and Health blogs http://www.medworm.com/rss/comments.php?id=2912374 Wed, 21 Oct 2009 03:57:31 +0100 2912374 http://www.medworm.com/index.php?rid=2725221&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fwww.everydayhealth.com%2Fblog%2Flife-with-breast-cancer%2Fgenetic-counseling-and-its-influence-on-breast-cancer-decisions%2F Genetic counseling was a choice I made.  I decided to have genetic counseling to determine if I had a genetic predisposition to breast cancer; it was in conjunction with my decision to have reconstructive surgery. My oncologist and I were discussing the options available to reconstruct the breast that had been removed. After having a breast cancer diagnosis I had questions as to whether I should consider prophylactic removal of my other breast to reduce the risk of breast cancer in my remaining breast. He was aware of the other cancers in my family and so suggested that genetic counseling could help me determine the risk for another breast cancer diagnosis. Testing positive for the BRCA II gene mutation created new issues. How my sister would be affected, her girls and my children was the... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=2725221 Fri, 21 Aug 2009 21:46:29 +0100 2725221 http://www.medworm.com/index.php?rid=1783012&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fhigh-health-insurance-costs-mean-no-vacation%2F Sister is in Italy swimming in the Mediterranean Sea. She and her husband have taken a much-deserved vacation, but who doesn’t deserve a vacation? After five and a half years of marriage I am still waiting for a honeymoon. When I got married I was an immigrant from Canada so I couldn’t leave the country for three months while I was being processed. Then that very summer while we were planning our romantic trip, I was diagnosed with breast cancer and the rest is well-documented on this Life with Breast Cancer blog. I want a vacation and a honeymoon, and I don’t want to take them at the same time. Travel is great fun, but not when you’re sick or recovering. Even the car travel after reconstructive surgery in Baltimore (a ten hour drive from Detroit) was a challenge. Baltimore is a di... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1783012 Wed, 10 Sep 2008 21:39:47 +0100 1783012 http://www.medworm.com/index.php?rid=1404275&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fchoosing-to-pass-on-your-cancer-genes%2F While Sister and I are dealing with the issue of being BRCA carriers, I was asked to participate in a study being done at the University of Michigan about this very subject. The timing of course is conspicuous and is turning genetic testing not only into a current theme for this blog, but also for my life. The research team at the U of M is trying to determine how testing positive for genetic predisposition to breast cancer affects decisions to procreate. For me that point is moot; I have two teenage boys, so the decision was made, and without all the facts I might add. I would not remake that decision differently based on the positive result for BRCAII, but I may have floundered if someone had told me that my sons would not be so adorable once they hit puberty. In fact, if someone were to... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1404275 Mon, 28 Apr 2008 20:43:52 +0100 1404275 http://www.medworm.com/index.php?rid=1389294&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fbrca-ii-testing-saved-my-sisters-life%2F Many of us breast cancer survivors somehow find a blessing in having been diagnosed and treated for breast cancer. Usually the blessing comes in the form of a deeper realization of our selves and an increased desire to impact our world. For me, now, the blessing may very well be my sister’s life. Last Wednesday, Sister went to her surgeon for the follow-up appointment from the hysterectomy in March that she had to lesson her risks of developing breast and ovarian cancer as a BRCA II carrier. Her surgeon discussed the pathology report from the organs that had been removed, and we were shocked by the results. The report showed changes in cells in the fallopian tubes near her ovaries. These changes are consistent with someone who develops ovarian cancer (see image below). It was the doctor�... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1389294 Mon, 21 Apr 2008 20:13:38 +0100 1389294 http://www.medworm.com/index.php?rid=1325548&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Flosing-healthy-body-parts-to-stay-alive%2F I think a hysterectomy is a tough surgery on any woman. Even deciding on having the surgery is a tough one. Having to deal with making the decision to cut out healthy parts can’t be easy. For me it truly meant battling breast cancer head on, for Sister it is about preparing for battle that you hope won’t come. Because she tested positive for the BRCA2 gene mutation, there is the constant looming threat of the disease, so the hysterectomy is just one step in her vigil against breast cancer. Surgery wasn’t easy for Sister, she didn’t come out of anesthetic whistling Dixie, and I think she blames me for making it look easy since I seldom have a problem and wake up looking for the party. She felt sick and queasy and miserable for several days but I am happy to say that she is well on h... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1325548 Tue, 25 Mar 2008 16:29:26 +0100 1325548 http://www.medworm.com/index.php?rid=1292366&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fliving-with-brca-breast-cancer-gene-mutation%2F Sister goes for a prophylactic oophorectomy this week. That is the medical way of saying that she is having her ovaries removed because of the increased risk of ovarian cancer she has from being a BRCA2 carrier. She was tested after I was diagnosed with breast cancer and tested positive for the gene mutation. She is determined to keep her breasts however and will just be very vigilant about testing for breast cancer. Ovarian cancer is really more insidious only because there is no standardized testing to catch it at an early stage. In addition, Sister has had a colonoscopy and will continue to get this test on a regular basis. She has an MRI on her breasts yearly and is part of a study monitoring high risk candidates for breast cancer being conducted in Canada. Living with the BRCA II gene... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1292366 Tue, 11 Mar 2008 01:13:30 +0100 1292366 http://www.medworm.com/index.php?rid=1294839&cid=t_149954_117_f&fid=36026&url=http%3A%2F%2Fblog.healthtalk.com%2Fzimney%2Factor-patrick-swayze-has-cancer-of-the-pancreas%2F The big celebrity news this week is that, unfortunately, Patrick Swayze has pancreatic cancer. It’s unclear what the extent of his disease is because early reports that he might be terminal have been squelched by his team who say that his disease is “limited” and that he has responded well to treatment. We all wish him well, but only time will tell. What’s so unfortunate are the statistics on cancer of the pancreas, which typically has a very high mortality rate with only 15 to 20 percent of people alive after five years. The biggest problem with pancreatic cancer is that the organ is hidden away and its cancer doesn’t usually cause any symptoms until it’s far advanced. That coupled with the facts that there’s no good screening methods and that treatments for cancer of the pa... Dr. Z's Medical Report blogs http://www.medworm.com/rss/comments.php?id=1294839 Fri, 07 Mar 2008 17:28:37 +0100 1294839 http://www.medworm.com/index.php?rid=1179324&cid=t_149954_136_f&fid=36032&url=http%3A%2F%2Fblog.healthtalk.com%2Fbreast-cancer%2Flife-with-breast-cancer%2Fif-i-had-only-known-i-was-a-brca-carrier-sooner%2F What if I had known earlier that I was a target for breast cancer? Would that have impacted my decisions? You bet! I would not have put off that one mammogram for an additional six months while I moved, I would not have taken birth control in my forties; I would have opted instead for a hysterectomy or oophorectomy. Would that have been enough to prevent the diagnosis? I can’t answer that for sure, but perhaps it would have allowed cancer to get only as far as the ducts in my breast, known as insitu, or stage 0. This week I found out that I could have known for certain that I was a genetic candidate for breast cancer with a very high risk of developing the disease. I could have known about this years before diagnosis. Sister had a conversation with a cousin who was well aware of the fami... Life with Breast Cancer blogs http://www.medworm.com/rss/comments.php?id=1179324 Fri, 25 Jan 2008 23:05:09 +0100 1179324 http://www.medworm.com/index.php?rid=926263&cid=t_149954_133_f&fid=35096&url=http%3A%2F%2Ffeeds.b5media.com%2F%7Er%2Fb5media%2FAutismVox%2F%7E3%2F165127314%2F Studies that indicate that autism is genetic are often roundly decried by those who believe that autism is caused by vaccines, or thimerasol, or other environmental, “extra-genetic” factors. Remarks such as “there can’t be a genetic epidemic” and “what is causing genes to mutate” are frequently offered. On the other hand, such statements suggest that more education in genetics and its terminology would be helpful in understanding why it is highly unlikely that some single “autism gene” can be found, and even some one factor that is causing genes to “mutate.” Epidemiologist and biotech consultant Dr. Hsien-Hsien Lei notes how a recent article on cancer risk in the LA Times confused the terms “gene” and “gene... Autism Vox blogs http://www.medworm.com/rss/comments.php?id=926263 Thu, 04 Oct 2007 09:47:42 +0100 926263