PALB2, or PAL for short, is our new friend. She's a newly discovered breast cancer gene who hangs out closest to our old friend BRCA2, or B2. She also hangs with B1 but not as much. But what does PAL do? According to some new research:
"Overall, the researchers found, a PALB2 mutation carrier had a 35 percent chance of developing cancer by age 70. By comparison, women with BRCA1 mutations have a 50 to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 to 60 percent chance..."
"The breast cancer risk for women younger than 40 with PALB2 mutation was eight to nine times higher than that of the general population. The risk was six to eight times higher among women ages 40 to 60 with these mutations, and five times as high among women older than 60...
"The data also indicated that women with the PALB2 mutations were slightly more likely to have “triple-negative” breast cancer — a form resistant to hormone treatment, more aggressive, and more likely to recur than other subtypes...."
A caution was added:
"“This has to be tailored to the patients, who may have other mutations and varying family risk,” she said. “With no family history, the increase they found is 35 percent. If you have two or more family members with cancer, they found a risk of 58 percent.”"
So PAL may be our friend but we don't want her to hang out with our family as well.
You can learn more about PAL here and here (NEJM) and here (Genetics Home Reference).
Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts
Friday, August 7, 2015
Sunday, July 5, 2015
The latest theories
So the latest theory, in case you missed it, is that a daily aspirin will reduce breast cancer deaths. Sho-wah. I'm all in. But I can't take a daily aspirin because I am on prescription anti-inflammatories for my back. I wonder if that is a good substitute.
Actually I ignore all that now because a newer study based on 70,000 adoptees found that if a biological parent had cancer, the child had a 80-100% greater chance of developing one of the three most common cancers - breast, colorectal or prostate.
"The study was led by Bengt Zoller, a reader at Lund University in Sweden. Dr. Zoller says:
So lifestyle doesn't do squat. Not really squat. We know smoking and drinking and sodas and fried foods are bad for us in other ways but in terms of cancer risk, check your family tree.
Actually I ignore all that now because a newer study based on 70,000 adoptees found that if a biological parent had cancer, the child had a 80-100% greater chance of developing one of the three most common cancers - breast, colorectal or prostate.
"The study was led by Bengt Zoller, a reader at Lund University in Sweden. Dr. Zoller says:
“The results of our study do not mean that an individual’s lifestyle is not important for the individual’s risk of developing cancer, but it suggests that the risk for the three most common types of cancer is dependent to a greater extent on genetics.”"
So lifestyle doesn't do squat. Not really squat. We know smoking and drinking and sodas and fried foods are bad for us in other ways but in terms of cancer risk, check your family tree.
Thursday, January 15, 2015
Over-Awareness, Focus, Hype and Expectations
The media did a damn good job about making sure we all knew about Angelina Jolie's double mastectomy. She went public, if I recall correctly, to raise awareness about the BRCA gene. I respect this decision and congratulate her on a brave decision to take something very personal and make it public.
In a recent survey, three quarters of us did know about her surgery and decision. Considering that it happened less than a year ago and and was much less significant than a war, earthquake, typhoon, etc 75% is a pretty good number.
I would also like to point out that all those years of breast cancer awareness and pinkification have allowed this to become a major news topic and not get buried under the carpet or something. However the information stops at awareness.
Only 10% of those asked in the survey knew about Angelina's BRCA diagnosis and why she had the mastectomy. I think I am okay with this. If you are not embedded in the breast cancer world you can't be expected to know chapter and verse about the genetic causes of breast cancer.
For example, I know there is some family genetic trait that leads to Huntington's disease and don't really feel I need to know more about it because it does not affect me directly. If it did, I would be up on it and have read all the research.
I think we have reached a level of breast cancer awareness that is overdone. But I do not think we need to expect that all American's know the great details of a breast cancer diagnosis and all its risk factors. There are many other diseases and ailments that deserve more awareness and shouldn't be hidden behind a pink curtain of over-hype and over-awareness.
I do think Americans need to embrace overall awareness of a healthy lifestyle and not focus on a few diseases at a time - the ones that are closest to them and causing them the most problems.
In a recent survey, three quarters of us did know about her surgery and decision. Considering that it happened less than a year ago and and was much less significant than a war, earthquake, typhoon, etc 75% is a pretty good number.
I would also like to point out that all those years of breast cancer awareness and pinkification have allowed this to become a major news topic and not get buried under the carpet or something. However the information stops at awareness.
Only 10% of those asked in the survey knew about Angelina's BRCA diagnosis and why she had the mastectomy. I think I am okay with this. If you are not embedded in the breast cancer world you can't be expected to know chapter and verse about the genetic causes of breast cancer.
For example, I know there is some family genetic trait that leads to Huntington's disease and don't really feel I need to know more about it because it does not affect me directly. If it did, I would be up on it and have read all the research.
I think we have reached a level of breast cancer awareness that is overdone. But I do not think we need to expect that all American's know the great details of a breast cancer diagnosis and all its risk factors. There are many other diseases and ailments that deserve more awareness and shouldn't be hidden behind a pink curtain of over-hype and over-awareness.
I do think Americans need to embrace overall awareness of a healthy lifestyle and not focus on a few diseases at a time - the ones that are closest to them and causing them the most problems.
Wednesday, January 7, 2015
Say hello to our new pal - PALB2
PALB2, or PAL for short, is our new friend. She's a newly discovered breast cancer gene who hangs out closest to our old friend BRCA2, or B2. She also hangs with B1 but not as much. But what does PAL do? According to some new research:
"Overall, the researchers found, a PALB2 mutation carrier had a 35 percent chance of developing cancer by age 70. By comparison, women with BRCA1 mutations have a 50 to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 to 60 percent chance..."
"The breast cancer risk for women younger than 40 with PALB2 mutation was eight to nine times higher than that of the general population. The risk was six to eight times higher among women ages 40 to 60 with these mutations, and five times as high among women older than 60...
"The data also indicated that women with the PALB2 mutations were slightly more likely to have “triple-negative” breast cancer — a form resistant to hormone treatment, more aggressive, and more likely to recur than other subtypes...."
A caution was added:
"“This has to be tailored to the patients, who may have other mutations and varying family risk,” she said. “With no family history, the increase they found is 35 percent. If you have two or more family members with cancer, they found a risk of 58 percent.”"
So PAL may be our friend but we don't want her to hang out with our family as well.
You can learn more about PAL here and here (NEJM) and here (Genetics Home Reference).
"Overall, the researchers found, a PALB2 mutation carrier had a 35 percent chance of developing cancer by age 70. By comparison, women with BRCA1 mutations have a 50 to 70 percent chance of developing breast cancer by that age, and those with BRCA2 have a 40 to 60 percent chance..."
"The breast cancer risk for women younger than 40 with PALB2 mutation was eight to nine times higher than that of the general population. The risk was six to eight times higher among women ages 40 to 60 with these mutations, and five times as high among women older than 60...
"The data also indicated that women with the PALB2 mutations were slightly more likely to have “triple-negative” breast cancer — a form resistant to hormone treatment, more aggressive, and more likely to recur than other subtypes...."
A caution was added:
"“This has to be tailored to the patients, who may have other mutations and varying family risk,” she said. “With no family history, the increase they found is 35 percent. If you have two or more family members with cancer, they found a risk of 58 percent.”"
So PAL may be our friend but we don't want her to hang out with our family as well.
You can learn more about PAL here and here (NEJM) and here (Genetics Home Reference).
Monday, January 5, 2015
The latest theories
So the latest theory, in case you missed it, is that a daily aspirin will reduce breast cancer deaths. Sho-wah. I'm all in. But I can't take a daily aspirin because I am on prescription anti-inflammatories for my back. I wonder if that is a good substitute.
Actually I ignore all that now because a newer study based on 70,000 adoptees found that if a biological parent had cancer, the child had a 80-100% greater chance of developing one of the three most common cancers - breast, colorectal or prostate.
"The study was led by Bengt Zoller, a reader at Lund University in Sweden. Dr. Zoller says:
So lifestyle doesn't do squat. Not really squat. We know smoking and drinking and sodas and fried foods are bad for us in other ways but in terms of cancer risk, check your family tree.
Actually I ignore all that now because a newer study based on 70,000 adoptees found that if a biological parent had cancer, the child had a 80-100% greater chance of developing one of the three most common cancers - breast, colorectal or prostate.
"The study was led by Bengt Zoller, a reader at Lund University in Sweden. Dr. Zoller says:
“The results of our study do not mean that an individual’s lifestyle is not important for the individual’s risk of developing cancer, but it suggests that the risk for the three most common types of cancer is dependent to a greater extent on genetics.”"
So lifestyle doesn't do squat. Not really squat. We know smoking and drinking and sodas and fried foods are bad for us in other ways but in terms of cancer risk, check your family tree.
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