#brca mutations

[gozzter]

The Body's Clock

The Body Clock

Scientists –well, all of us- have been suspicious about the health risks of shift work for a long time now. Perhaps there is a reason buried somewhere in our genes that suggests night is for sleeping and daytime for working. Originally, no doubt, it was because it was difficult to see things in the dark and lighting, even when it became available, wasn’t very good.

But there is another reason:…

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[orrca1014]

Experts Say Universal Screening For BRCA Mutations Is Worthless: 'Like Looking For A Needle In A Haystack'

Experts Say Universal Screening For BRCA Mutations Is Worthless: ‘Like Looking For A Needle In A Haystack’

Universal screening to identify women carrying BRCA gene mutations is a “questionable” idea with little to no clinical value given the “extraordinarily low prevalence” of the mutations, experts say in a new article published in JAMA Oncology. The decision-analysis study, conducted by Elisa F. Long, PhD, and Patricia Ganz, MD, of the University of California Los Angeles, shows that for every…

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[orrca1014]

Scientists Discover New Gene Strongly Linked To Breast Cancer

Scientists Discover New Gene Strongly Linked To Breast Cancer

Researchers have uncovered a new gene mutation that is strongly linked to the development of breast cancer. The findings, reported in a new study in the journal Nature Genetics, add to our current understanding of the causes of hereditary breast cancer and could pave the way for new approaches to preventing and treating the disease.

Breast cancer is the most common cancer in women worldwide. In…

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[hchlitsstweetchat-blog]

#hchlitss tweet chat with Universal Screening BRCA--Andrea Downing & Robert West On September 8th, Dr. Marie-Claire King, discoverer of the BRCA1 gene mutation that causes breast cancer, received a prestigious award and made a remarkable statement and proposal. “many women with mutations in these genes are identified as carriers only after their first cancer diagnosis b ... http://goo.gl/rg036Y

#hchlitss tweet chat with Universal Screening BRCA--Andrea Downing & Robert West On September 8th, Dr. Marie-Claire King, discoverer of the BRCA1 gene mutation that causes breast cancer, received a prestigious award and made a remarkable statement and proposal. “many women with mutations in these genes are identified as carriers only after their first cancer diagnosis b ... http://goo.gl/rg036Y

Universal Screening BRCA--Andrea Downing & Robert West

On September 8th, Dr. Marie-Claire King, discoverer of the BRCA1 gene mutation that causes breast cancer, received a prestigious award and made a remarkable statement and proposal.

“many women with mutations in these genes are identified as carriers only after their first cancer diagnosis because their family history of cancer was not sufficient to suggest genetic testing. To identify a woman as a carrier only after she develops cancer is a failure of cancer prevention.”

She proposed that all women age 30 and up should be tested for the BRCA1 and BRCA2 gene mutations to prevent cancer.

The day before, I had watched target=”_blank”>Andrea Downing’s Ignite Talk at Stanford MedX. Andrea’s story became part of the post that I wrote on Medivizor’s website. Andrea tested positive for the BRCA1 mutation which she inherited from her great-grandmother and grandmother who both died of breast cancer. Andrea’s mother was diagnosed in her thirties with Stage 3 breast cancer. For Andrea, her lifetime risk of getting breast cancer was 87% and of getting ovarian cancer 60%.

With this information, Andrea followed the aggressive surveillance strategy of mammograms and MRI’s every 6 months for 6 years. Only upon finding a group of other previvors did she learn that these tests might not detect the cancer in her dense tissue. She realized that she had started living a life of expectation…when would she get breast cancer? She did not have an answer to that question but found information and support through the Previvor Community to make the right decision for her about prophylactic bilateral mastectomy (PBM).

Skip forward to Saturday and a check on what was happening on Twitter.

With a PhD in Genetics from University of California, Davis and 30 years (as of 2014) experience working as a professor at SUNY Upstate Medical University training medical students in the practice of “21st Century Medicine,” Robert West can say just about anything he wants about genetics and medicine and people take notice. On Twitter, he provides insights into genetics, cancer, medicine, training students, that educate, engage and enlighten. He is an ardent advocate for predictive, preventive, personalized and participatory medicine. He is also an e-patient with personal expertise in asthma, allergies, autoimmune disorders and chronic pain. So, when I saw that Andrea and Bob were tweeting about the idea of screening all women age 30 and up for the #BRCA mutations, I knew I had to bring them to our “after-summer break” return chat on Thursday, September 18th at 8pm ET.

Please join us for this informative and lively discussion of genetics, breast cancer and health. Please check out these sites for more information about this topic.

BRCA Genetic Screening For All Women: What Do You Think? Population Based Screening for BRCA1 and BRCA2 Universal BRCA Screening? NSGC Responds to Journal of the American Medical Association Study

Join us at 8pm ET/7pm CT/ 5pm PT using Tweetchat.com or Twubs.com We can’t wait to welcome you to The Health Communication, Health Literacy and Social Science Tweet Chat #HCHLITSS.

[hchlitss]

Universal Screening BRCA--Andrea Downing & Robert West

Universal Screening BRCA–Andrea Downing & Robert West

On September 8th, Dr. Marie-Claire King, discoverer of the BRCA1 gene mutation that causes breast cancer, received a prestigious award and made a remarkable statement and proposal.

“many women with mutations in these genes are identified as carriers only aftertheir first cancer diagnosis because their family history of cancer was not sufficient to suggest genetic testing. To identify a woman as a…

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[talkabouthealth-blog]

Re: BRCA mutations. How many have been positively identified as cancer causers? And, how many more are "left" to look at? I have "unknown" mutations on both.

Expert answer of the day on TalkAboutHealth by @DrAttai.

Re: BRCA mutations. How many have been positively identified as cancer causers? And, how many more are "left" to look at? I have "unknown" mutations on both.

Myriad Genetics (http://www.myriad.com/) has had BRCA 1 and 2 testing available since 1996. Currently there are over 2000 variations in BRCA 1 and 2 genes that have been shown to be "deleterious" mutations, in that they are responsible for an increased risk in breast and ovarian cancer. New deleterious mutations are being discovered and confirmed with some regularity.  At this point, approximately 5% of mutations identified are labeled "mutations of undetermined significance" - this means that there is a gene abnormality, but there is not enough data to know if the mutation is a harmful one or not - realize that many gene mutations do not confer an increased risk. According to one of the researchers at Myriad, when they first started testing in 1996, "15 to 40% of the people getting tested had a variant of uncertain significance. That is now under 5%, because we have made enormous progress in our ability to study variants and figure out if they cause an increased risk for cancer. But there are still a lot of variants for which we need more information".