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Posts with tag mutation
Posted Jul 14th 2007 3:30PM by Kristina Collins
Filed under: Breast Cancer, Clinical Trials, Research, Daily news
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.
Posted Mar 29th 2007 10:00AM by Jacki Donaldson
Filed under: Breast Cancer, Daily news

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.
Posted Dec 31st 2006 8:18AM by Dalene Entenmann
Filed under: Melanoma, Research, Daily news

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.
Posted Dec 4th 2006 2:00PM by Kristina Collins
Filed under: Breast Cancer, Drug, Prevention, Research
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.
Posted Nov 15th 2006 10:00AM by Jacki Donaldson
Filed under: Drug, Lung Cancer, Research, Daily news

The lung cancer drug Gefitinib has been taken off shelves in the United States due to ineffectiveness. But it remains effective in some Taiwanese lung cancer patients, according to a study published in the journal
Lung Cancer.
The study, conducted by the National Health Research Institutes, involved 65 non-small-cell lung cancer patients and found that more than 50 percent of participants responded to the drug therapy -- while only 10 percent respond in Western studies.
A genetic mutation of the epidermal growth factor receptor (EGFR) was found in most patients who responded to Gefitinib. The mutation is rare in Western countries but much more common in East Asian countries where the mutation increases the likelihood of developing adenocarcinoma.
About 6,800 Taiwanese patients develop non-small-cell lung cancer every year. Of these, 65 percent of cases are adenocarcinoma. Of this group, 57 percent will have the genetic mutation. And roughly half will respond to Gefitinib.
Posted Oct 13th 2006 1:00PM by Kristina Collins
Filed under: Breast Cancer, Young Adult Cancers, Cancer Survivors, Survivor Spotlight
I loved Ann's story, you will too. Ann is a fellow young breast cancer survivor. She lost her mother at a young age to breast cancer. Ann has two sons and when she was diagnosed she knew that she had to handle the situation differently when it came to telling her children what was going on. When she was young and her mother was diagnosed the family tried to protect her by not giving her information about what was going on with her mom. She knows first hand how that approach, though well meaning, only made her more scared and confused. Ann has a lot of good advice to share and feels honored to share her story with us. You can also read more about Ann in her blog called The Life Journal of Geeky Gal.
Continue reading Survival Spotlight: Ann changes family history
Posted Sep 8th 2006 9:00AM by Jacki Donaldson
Filed under: Colon and Rectal Cancer, Prevention, All Cancers, Opinion, Daily news

Chloe is a little girl conceived through in vitro fertilization -- not because her parents could not conceive in the traditional manner but because they wanted to make sure Chloe had no predisposition to cancer in her genetic makeup. And in vitro fertilization is one method of almost ensuring this. There is still a three percent chance of failure but Chloe's parents felt confident in the elective process that would mostly prevent her from inheriting a genetic mutation for colon cancer that has devastated her family -- Chloe's father carries this mutation, and his mother, grandfather, and two uncles have all died from colon cancer.
A growing number of couples are using preimplantation genetic makeup to detect a predisposition to cancers that may or may not develop later in life. Using this procedure, parents subject their tiny embryos to genetic tests to determine whether or not they harbor defective genes. Essentially, parents get to pick and choose from embryos in a petri dish which one they want. Since the embryo that became Chloe did not test positive for any defective genes, she was the chosen one. And she is now a healthy two-year-old girl.
It's an ethical minefield -- this scientific creation of human life and the picking and choosing of which embryos will survive and which ones will not. One expert says the issue centers around what is considered serious enough to warrant such testing -- and who gets to make this decision. Ethical dilemmas surrounding this issue will only continue to grow as more and more options become available. Already embryos are tested for predisposition for obesity and deafness and a mild skin condition. Some clinics even screen for gender. Some fear this practice may lead to a genetic class divide where the wealthy will become more genetically pure than the poor -- because this process is difficult and expensive, costing tens of thousands of dollars without insurance coverage.
Chloe's parents are happy they made the choice they did. Her father says he doesn't know if he could handle being told his daughter has cancer -- especially with the knowledge that he could have prevented it.
Posted Aug 20th 2006 7:00PM by Kristina Collins
Filed under: Breast Cancer, Stress Reduction, Books, Cancer Caregivers, Cancer Survivors
Breast Cancer Daughters Tell Their Stories is a book that looks at how mothers and daughters change when facing breast cancer. The book addresses the daughters' experiences based on how old they were when their mothers died. It also has chapters on women whose mothers survived breast cancer and looks at genetic risk.
The author Dr. Oktay explains the process of interviewing women whose mothers had died and their reactions. This book is a good source for someone facing mortality issues. It examines four phases a daughter may experience. The period prior to a mother's illness, the period during the mother's illness and treatment, the period following a mothers death and long term impact.
Posted Aug 15th 2006 1:00PM by Dalene Entenmann
Filed under: Colon and Rectal Cancer, Prevention, Research

I hesitate to bring this up, as the hot dog is a bonafide American icon, associated so closely as it is to the all-American pastimes of baseball and backyard barbeques -- and to sacrilegiously make the suggestion or malign the hot dog on any level I realize puts me at risk of having my patriotism brought into question.
Still, knowing this, I have chosen to throw pickle relish caution to the wind in the name of science and better health.
According to
University of Nebraska researchers (you note I point directly to the researchers as the originators of this news) some hot dogs might cause DNA mutation and increase colon cancer risks. Not all hotdogs, but they cannot tell you at this time which hotdogs are a cancer menace.
Hot dogs do not stand alone as culprits to cancer. Salted dried fish and soy sauce have been identified as potential offenders. But I am not nearly as skittish in mentioning the latter two.
The National Hot Dog and Sausage Council estimates that more than seven billion hot dogs will be eaten by Americans between Memorial Day and Labor Day. Statistics estimate the breakdown of hot dog consumption per American is 60 hot dogs a year.
Next? Brushing up on my French.
Posted Aug 4th 2006 11:45AM by Kristina Collins
Filed under: Endometrial Cancer, Prevention, Uterine Cancer, Research, Cancer Survivors
A study led by scientists at the Ohio State University Comprehensive Cancer Center found that women who developed endometrial, or uterine, cancer had a one in fifty chance of having an inherited mutation that could lead to high risk of other cancers.
Those that have the inherited mutation called Lynch syndrome have a higher risk of developing colon, endometrial, ovarian and gastric cancer. The most common cancer for this condition is endometrial cancer.
It is important for women diagnosed with endometrial cancer to be tested for the Lynch syndrome mutation. These women can benefit from knowing that they are at high risk for other cancers by being proactive and making sure they get the correct screening tests on an annual basis.
Posted Aug 3rd 2006 12:10PM by Kristina Collins
Filed under: Breast Cancer, Ovarian Cancer, Chemotherapy, Prevention, Research, Young Adult Cancers, Cancer Survivors
FORCE: Facing Our Risk of Cancer Empowered is a nonprofit organization for women with increased risk of cancer due to family history and genetic status, and for members and families in which BRCA mutation may be present.
You can find information on risk management, health care, advocacy and also join in on a chat line or message board. There is also a help line to call for those who need support and are concerned about hereditary cancer.
One aspect of the site that I really like is the section for pre-vivors. These individuals have not been diagnosed with cancer but have a predisposition to cancer because of a genetic mutation. This section of the website talks about chemoprevention for breast and ovarian cancer, risk management, family history, genetic counseling and much more.
This is a great resource for those with an increased risk for cancer because they too have to make medical decisions and they face some of the same fears that cancer survivors do.
Posted Jul 11th 2006 9:00PM by Dalene Entenmann
Filed under: Breast Cancer, Ovarian Cancer, Prevention, Research

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.
Posted Jun 23rd 2006 10:00AM by Jacki Donaldson
Filed under: Breast Cancer, Research, Daily news

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.
Posted Jun 19th 2006 7:00AM by Dalene Entenmann
Filed under: Prevention, Stomach Cancer, Daily news

What would you do if you tested positive for a gene that caused the death of many of your family members? The descendants of Golda Bradfield, who died of gastric cancer and from whom the defective gene was inherited, made a radical decision based on knowing they had inherited the gene that killed their grandmother. Eleven cousins in all had their
stomachs removed to avoid the certain fate of dying from gastric cancer. Some of the cousins had already watched their parents, aunts and uncles, die from gastric cancer. It is a decision they do not regret. After the stomachs were surgically removed and sent to the lab for analysis, the stomach tissue had already begun to develop cancerous growths. Without surgical removal of the stomach, this would not have been discovered in time as there are no tests to detect early stage gastric cancer.
According to experts, in the near future, doctors may do routine DNA tests to detect disease risks that can be lowered. "We do not yet have a general DNA test that fits into that category, but we're headed for it at a pretty good clip," said Dr. Francis Collins, head of the National Human Genome Research Institute.
The CDH1 gene mutation, first discovered about eight years ago in a New Zealand family with a history of stomach cancer, is extremely rare. It is estimated only 100 families worldwide carry the flawed gene that leads to hereditary gastric cancer.
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