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Posts with tag BRCA1

Thought for the Day: What would prevent you from taking preventative action?

Here's an interesting story: Women in the Canadian province of Quebec are less likely than women elsewhere to take preventative action after learning that they have a certain gene linked to breast and ovarian cancers. Women who carry the BRCA1 or BRCA2 gene mutations have a higher risk of developing cancer, prompting many women to either have their breast or ovaries removed. Two thirds of women in Quebec took no preventative actions after learning of their risk, while only one third failed to take preventative steps in the rest of the country.

So, my thought for the day is: What would prevent someone from taking action against a disease that could kill them? Religious beliefs? Lack of knowledge about the disease? Lack of money? And if you found out you were at a high-than-normal risk for breast cancer, would you act right before it had the chance to get to you, or would you take your chances?

Do women with BRCA mutations have poorer survival rates?

According to a New England Journal of Medicine article, the answer is no. Women with the breast cancer mutations BRCA1 and BRCA2 seem to have similar survival rates as women without these gene mutations.

A clinical trial was conducted including 1,500 patients. The researchers wanted to see if the patients with gene mutations had worse outcomes then those that did not have the gene mutations.

The researchers found:

  • Overall, deaths rates from breast cancer were not significantly different among patients with BRCA1 and BRCA2 mutations from those without the mutations.
  • Among patients who underwent treatment with chemotherapy, death rates from breast cancer were not significantly different between patients with BRCA1 and BRCA2 mutations from those without the mutations.

Four more breast cancer genes found

Four more breast cancer genes have been uncovered by a team of international scientists, a discovery that may rival in importance the cloning of the BRCA2 gene in 1995. Scientists say women with mutated versions of these genes have a pretty low risk of contracting breast cancer, though, and it's unlikely that screening tests for such mutations will be developed.

Genetic causes of breast cancer account for 5 to 10 percent of all cases. Lifestyle factors, such as smoking and environmental influences, account for the rest.

Until now, only 25 percent of the genes suspected to cause inherited breast cancer had been identified. The four new genes -- FRFR2, TNRC9, MAP3K1, and LSP1 -- are believed to be fairly common yet account for only four percent of all cases. The genes BRCA1 and BRCA2, in contrast, are not very common but indicate a high risk for disease.

Continue reading Four more breast cancer genes found

Breast MRI now officially recommended

I get mammograms every six months. I get ultrasounds every six months. I get a breast MRI every year. That's my typical screening routine, intended to keep breast cancer from invading my life for a second time.

This combination of testing -- primarily the MRI part -- has not been typical for all at-risk women. It's just the plan my doctors have determined is the best insurance policy for me. But as of yesterday, the American Cancer Society began recommending regular use of MRI scans, rather than conventional mammograms, for women facing a breast cancer risk of 15 percent or more.

Family history places one to two percent of women at a 20 percent higher risk of developing the disease than women without such a history. Women carrying a BRCA1 or BRCA 2 gene mutation face a lifetime risk of up to 65 percent. And women with a personal history of the disease are at risk of a repeat diagnosis. These are the women MRI screening can help.

Recent studies show MRI to be much more sensitive than mammograms. And in an investigation of 969 women diagnosed with breast cancer in one breast, MRI found 30 additional tumors in the opposite breast previously missed by mammograms and physical exams.

Not typically used for routine screenings due to cost and a few false alarms -- sometimes the scans detect suspicious areas that once surgically tested turn out to be benign -- MRI is still the best tool for detecting more cancerous tumors earlier.

There is no proof yet that the cancers detected by MRI will translate into longer lives for patients. Life-extending benefits will become clear only after women are followed for a longer period of time.

More risk factors added to breast cancer list

Simply being female puts all women at risk for breast cancer. That and age, race, family history, personal history, genetic make-up, when they had children, when they reach menopause, and a whole host of other possible factors.

Now U.S. doctors are officially calling body mass index, breast density, and alcohol consumption predictors of the disease, says Therese Bevers, medical director of the Cancer Prevention Center, at the University of Texas M.D. Anderson Cancer Center in Houston.

Bevers helped write updated guidelines for the prevention of breast cancer and presented them at the 12th annual National Comprehensive Cancer Network in Hollywood, Florida on Friday.

The guidelines, featuring the revised list of risk factors, also offer treatment options for women -- including bilateral mastectomy for women who have tested positive for the genes BRCA1 and BRCA2 as well as possible medical treatments with drugs such as tamoxifen and raloxifene.

Abortion pill chemical may help prevent breast cancer

A study that appears in the December issue of Science reports that a chemical compound called mifepristone present in the abortion pill may prevent breast tumors from developing. The compound has been found to prevent the growth of breast tumors caused by the mutant gene responsible for breast and ovarian cancers.

Mifepristone showed to prohibit progesterone, a hormone involved with the female reproductive cycle. Women who are diagnosed with BRCA 1 mutation often have their breasts or ovaries removed to reduce the risk of developing cancer.

Eva Lee, lead author of the study and professor of developmental cell biology and biological chemistry, says "We found that progesterone plays a role in the development of breast cancer by encouraging the proliferation of mammary cells that carry a breast cancer gene. Mifepristone can block that response. We're excited about this discovery and hope it leads to new options for women with a high risk for developing breast cancer".

BRCA 1 is widely studied by cancer geneticists because a mutated version of this gene significantly raises the possibility of breast or ovarian cancers. By age 70, more than 50 percent of women with the mutated gene with develop breast or ovarian cancer. The researchers studied mice with the BRCA 1 mutation. The mice that were treated with mifepristone, an anti-progesterone compound did not develop breast cancer by the time they reached one year of age. All of the untreated mice developed tumors by eight months of age.

The researchers found that progesterone encourages the development of cancer when the mutated BRCA 1 gene is present because it speeds up the division of cancer cells. Mifepristone was found to block a binding process that is necessary for progesterone to cause the cell division. The researchers feel that anti-progesterone therapy could provide women with an increased risk for breast cancer with more treatment options in the future.

Abortion drug blocks breast cancer gene

No one is suggesting women use the abortion pill RU-486 to keep a well-known breast cancer gene from doing its dirty work, but scientists have successfully used this pill to keep tumors at bay in mice bred with the BRCA1 gene. And while this breakthrough may not benefit the human population just yet, it does indicate there may be something on the horizon to help women who carry the gene and are destined to develop breast cancer.

The BRCA1 gene spurs the sex hormone progesterone that RU-486 happens to block. If researchers could create a safer hormone blocker, it may offer an alternative for women with the bad gene. Today, there are just a few options for these women -- and all of them are anxiety-producing.

Currently, women can receive more frequent cancer screenings to catch cancer in its earliest form, remove both breasts while they are still healthy, take the hormone-blocking drug Tamoxifen, and remove the ovaries to cut the risk of both breast and ovarian cancers. A better option is necessary for women faced with an almost certainty of developing cancer.

The deputy chief medical officer for the American Cancer Society calls this study elegant research. But he stresses that "it would not be appropriate in any way, shape or form that women start taking RU-486 for this purpose." Long-term use of this abortion drug can cause other side effects, including immune system suppression.

Cancer specialists applaud this development. Yet they caution women to not get their hopes up yet. They say this is an avenue worth pursuing on a research level. But it's clearly too soon to start recommending use of an agent like RU-486 for breast cancer prevention.

Awareness of breast cancer risk is a must, every month

There are various risk factors that can contribute to the development of breast cancer. Being female is the single biggest risk factor that on its own puts all women in jeopardy. But there are other risks -- many beyond our control and some more significant than others -- that can help explain why some women are diagnosed with the most common cancer in women in the United States. And why others are not.

Continue reading Awareness of breast cancer risk is a must, every month

New gene discovery is small piece in breast cancer puzzle

Researchers have identified a damaged gene -- BRIP1 -- that doubles the risk of familial breast cancer in a small percentage of women. BRIP1 is a DNA repair gene that can lead to uncontrollable cell growth if not functioning properly. Researchers have concluded that the damaged gene increases risk for breast cancer from eight to 16 percent by age 70.

These findings won't change patient care but they may offer comfort to women who develop breast cancer and cannot pinpoint the occurrence to the commonly mutated BRCA1 and BRCA2 genes -- mutations that are responsible for the disease 80 percent of the time. And while the study of BRIP1 does add to the pool of research on breast cancer, it does not warrant screening at this time. It's just a small piece of the puzzle that one day may prove significant. For now, the risk of breast cancer resulting from a damaged BRIP1 gene is modest.

Removal of ovaries does not prevent ovarian cancer

This is surprising -- and not good news -- for women. For women who carry one of two specific gene mutations, BRCA1 or BRCA2, linked to an increase in breast and ovarian cancer risk, even if the ovaries and fallopian tubes are surgically removed, they are still at risk for developing a form of ovarian cancer called peritoneal cancer.

According to Dr. Steven Narod, a leading researcher in the field of inherited breast and ovarian cancers, women with the gene mutations still have a cancer risk nine times higher than women without the inherited BRCA1 or BRCA2 gene mutation.

"Is it bad news? Well, one would like to think you have your organs removed and the disease is not going to come," said Dr. Narod. The average Canadian woman has about a 1.4 percent lifetime risk of developing ovarian cancer. The risks for women with the BRCA1 gene mutation is 60 percent and with the BRCA2 gene mutation is 25 percent.

Researchers call the surgical removal of ovaries and fallopian tubes a method of risk-reduction but that it will not completely prevent ovarian cancer. The Hereditary Ovarian Cancer Clinical Study Group have reported the study results in the Journal of the American Medical Association.

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.

Pregnancy protects against genetic breast cancer

Multiple pregnancies for women who carry the inherited mutations in BRCA1 or BRCA2 genes appears to reduce the risk of developing breast cancer, according to researchers from the German Cancer Research Center. The International BRCA1/2 Carrier Cohort Study set out to examine if the same breast cancer protective factors of multiple births and breastfeeding provided to women without the genetic mutations extended to women with the BRCA1 or BRCA2 genes. 

According to the study, women with one child have the same breast cancer risk as childless women. The risk of developing breast cancer after age 40 was lowered by 14 percent with every child. Interestingly, women with a BRCA2 mutation had twice the cancer risk if they had given birth to their first child after age 20 compared to those who had become mothers before age 20. For carriers of BRCA1 mutations, it was the exact opposite. The risk of getting breast cancer was lower in women who had given birth to their first child after age 30. The only thing about research -- it is only correct until the next research study. I only say this because I hear over and over from women who are surprised by a breast cancer diagnosis when they did not have any of the risk factors or they fit the profile of a woman with reduced risk. If you have the inherited BRCA1 or BRCA2 genes, the study results are a generalization, and your individual situation might differ. I would not sit here and read into this study that you are going to get breast cancer because you only gave birth to one child -- or that you didn't have children at the optimum age.

Drinking coffee is breast cancer prevention

For women with the BRCA1 mutation, a specific genetic mutation that puts them at greater risk of developing breast cancer, study results suggest that drinking caffeinated coffee offers a significant level of breast cancer prevention. In a study funded by the Canadian Breast Cancer Research Alliance and National Cancer Institute, researchers examined the records of 1,690 women who have the genetic mutations BRCA1 or BRCA2 and had the women give answers to a questionnaire about coffee consumption. Women who drank one-to-three cups of caffeinated coffee per day reduced their breast cancer risk by 10 percent; women who drank four-to- five cups of caffeinated coffee reduced their breast cancer risk by 25 percent and women who drank six or more cups of caffeinated coffee per day were 69 percent less likely to develop breast cancer than women who drank no coffee. Good news for all of us who jumpstart our morning with a jolt of java.

Mammograms do not increase breast cancer risk

University of Toronto in Ontario, Canada researchers completed a study that concludes radiation exposure during mammography tests does not increase the risk of breast cancer in women with BRCA1 and BRCA2 gene mutations, even when screening begins at an early age.

Radiation exposure can damage DNA. BRCA1 and BRCA2 gene mutations can prevent  DNA from repairing the damage. So, it was feared that any additional radiation exposure to women who carry the BRCA1 and BRCA2 gene mutation were being put in harm's way by having mammograms. The researchers say it isn't so. However, even though the study conclusions report no heightened cancer risk for women with the BRCA gene mutations and mammograms, research into this will continue, to confirm the initial findings of this study.

Unraveling the mystery of missing breast cancer genes

In 2004, the COSMIC database was developed at the Sanger Institute, Cambridge, UK, to provide the latest in genetic data to scientific communities. To date, data in COSMIC has expanded to include data on 538 genes, 124,367 tumors with 23,157 mutations. In centralizing and building on the information from various research communities, the COSMIC database can speed the progress of research in helping genetic scientists identify, and understand, the role of mutated genes to cancer.

In the case of breast cancer diagnosis, researchers have identified that 20 percent of breast cancer is influenced by the inherited risks of BRCA1 and BRCA2 genes. But 80 percent are still without a genetic explanation.

According to missing breast cancer genes may soon be discovered, published in Physorg.com, "This could explain why some smokers get lung cancer and some don't - there must be a combination of faulty genes and harmful exposure to tobacco smoke to activate the cancer cells." The COSMIC database may allow scientists to unravel the genetic mysteries in the development of cancer, in why some people are diagnosed with cancer and others living the same lifestyle are not, and why cancer treatments work for some people, while failing others.

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