cancer

Mutations in BRCA1 and BRCA2 genes and breast cancer

In a study published in the journal Science 24 October 2003, the New York Breast Cancer Study Group (New York Group for the study of breast cancer) not only confirms that every woman carries a mutation in the genes BRCA1 and BRCA2 is at a high risk of breast cancer but, against what had been held so far of this risk involving women from families with low breast cancer or those who have inherited the mutant gene from his father.

For this reason is very important that women try to get as much information as possible about whether there had been breast cancers in young women not only in the maternal family, but his father’s family (which can inherit a BRCA gene mutation).

In practice only under investigation are those women who develop breast cancer at an early age or relatives who developed breast cancer or ovarian cancer when they were young.

The women included in the study were Jewish “Ashkenazi”, an ethnic group that includes 90% of the six million Jews living in the U.S. The researchers chose this population because mutations that occur more often in this group have been identified, making genetic testing have been more easily done. However, in view of the Dr. Mari-Claire King, Director of the study, the findings apply to all women with BRCA gene mutations.

The study shows that at the age of 80 years, a woman with a mutation in one of the two BRCA genes has endured a 82% risk of developing breast cancer, whereas in women without this mutation the average risk of developing breast cancer at age 80 is around 13%.

Broken down by decades of his life is a risk that a woman with BRCA1 or BRCA2 breast cancer development is as follows:

At the age of 40 years ——– 20%
At the age of 60 years ——– 55%
At the age of 80 years ——– 82%

Although similar numbers of risk had been already published in previous studies, those figures were merely estimates, while the results of the study published in Science are based on diagnoses of breast cancer and genetic determinations performed in 104 women carrying mutations in BRCA genes and more than 800 relatives of these women.

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A new study finds that women who carry BRCA gene mutations have the same mortality rates for malignancies those women who do not have this variant DNA.

These findings were published in the July 12 edition of New England Journal of Medicine, and contradict much of the current medical belief.

“Our main finding that female carriers have similar survival rates, or even better, partly undermined, though not all, previous publications on the subject,” noted study author Dr. Gad Rennert, National Center Clalit for cancer control and Caramel Medical Center in Haifa, Israel. “However, we use a design ‘clean’ it was not possible for other research groups and therefore the results of our study is closer to ‘truth’ than any other study on the issue.”

Practically speaking, the findings may impact treatment decisions for women who have one of two genetic mutations, called BRCA1 or BRCA2.

Many previous studies on the subject have suggested that the cancer that resulted from these mutations had a worse prognosis than other types of breast tumors.

BRCA mutations are more common among Ashkenazi Jewish women, which could help determine why breast cancer is the leading cause of all deaths from cancer among Israeli women. About 60 percent of Israeli Jews are Ashkenazi. About 2 percent of all women of Ashkenazi origin and 12 percent of Ashkenazi women with breast cancer carry one of these two mutations.

Breast cancers associated with BRCA1, in particular, tend to occur in younger women, are high grade and are not estrogen receptor-positive and all these factors are associated with a worse outcome.

However, the information about how BRCA status would affect a woman’s prognosis had been “inconsistent,” wrote the authors.

To clarify the picture, the authors analyzed all cases of invasive breast cancer diagnosed between 1 January 1987 and 31 December 1988 and registered in the Israeli National Center for registration. This accounted for the majority of women who had been diagnosed with breast cancer in Israel during that time period. The researchers examined tumor samples from patients and analyzed DNA, and also categorized the deaths over 10 years from diagnosis.

The authors were able to analyze the tumor samples of 1.794 and 2.514 participants obtained the medical records of 1,545 women. Ten percent of participants who were Ashkenazi Jewish had a BRCA1 or BRCA2.

The risk of dying from breast cancer was not significantly different among carriers and non-carriers, the researchers found. Moreover, both groups responded similarly well to chemotherapy.

“The importance of the study is that it demonstrates that despite the profile of prognostic factors, the carriers of [BRCA] get good results, something that is important for female carriers and doctors,” said Rennert. “It also demonstrates that chemotherapy is very effective in the carriers and that oncologists should not deny to the carriers, even with small tumors, the potential benefits of treatment.”

The next step is to customize treatments, “as it is likely that some treatments work best for carriers, while others may be resistant,” said Rennert.

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A current alternative for the management of patients with breast cancer has been the study of the BRCA gene (BRCA 1 and BRCA 2), as a hereditary mutation is present in approximately 5 to 8% of cases. The risk of breast cancer increases significantly in women with BRCA 1 and BRCA 2 mutant. These genetic mutations also influence the onset of ovarian cancer with an association of about 5% of cases, particularly associated with BRCA 1.

The clinical management of these findings must be guided through a detailed medical history in which clearly must include a family history of cancer and age of onset (at least 2 generations including parenting), the development of genetic counseling and implementation of clearly defined protocols, together with appropriate treatment options and the strict surveillance of family members considered as risk group.

For the first time, a team of Canadian researchers have calculated the risk for women who do not have a faulty BRCA gene, but close relatives who have had a cancer of that type.

Women who inherit a faulty BRCA1 or BRCA2 have a 80 percent chance of developing breast cancer sometime in her life.

But experts also know that families exist in other genes associated with the disease.

The team from the University of Toronto led by Steven Naron, studied women who had a first degree relative less than fifty years with cancer and three of any age who suffer from the same condition.

Despite not having a defective gene, more than one in three of these women developed breast cancer compared with an average probability of one in nine among the general population.

Although the risk of developing breast cancer among this group of women is not as high as among those who carry the gene (defective) is significant enough for doctors to consider applying appropriate preventive therapies.

It’s the first time it has measured the risk of breast cancer in this group of women, and significantly higher than the general population, so it is important that appropriate measures be considered.

The Canadian study published in the new issue of British Journal of Cancer.

According to Professor Jack Cuzick, an epidemiologist from Cancer Research UK, about 15 percent of British women suffering breast cancer have a family history of disease.

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Digital Mammograms Emit Less Radiation

New digital mammograms emit significantly lower doses of radiation the conventional study, especially in women with breast cancer, U.S. researchers said.

A study of 50,000 women, filed Thursday, mammography compared both systems and found that the dose of radiation was 22 percent lower with the digital system with the traditional method.

“Reducing the radiation dose is another step forward in the control of breast cancer with mammograms, which saves thousands of lives every year, “said Dr. Edward Hendrick, of University of Colorado-Denver and a consultant to General Electric.

The study results are part of Digital Mammography Imaging Screening Trial, about 49,528 women in 2005 found that the digital system detects up to 28 percent more tumors than the conventional version in women under 50 menopausal years there and with dense breast tissue.

Dr. Carol Lee, who chairs the Committee on Studies Breast Imaging American College of Radiology, clarified that the previous study had shown that digital results were equivalent or slightly better in certain groups.

What is new is “to be obtained with a dose of lower radiation.

Both systems generate X-ray breast imaging, but digital mammography is stored in a computer, which easier to access compared with mammography traditional.

Lee said that in general, the radiation dose in both systems is not so high and that women should not skip The study recommended if there is a digital system where live.

But he said that in general it is better to reduce the dose of radiation. “We want to keep it as low as possible and achieve the target, which is get a good picture, “Lee said in a telephone interview.

In the study, researchers used equipment Fischer Imaging Corp Digital, Fujifilm Medical Systems, GE Healthcare and Hologic Inc.

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Francis Levi, cancer (1), just to show that we can improve chemotherapy

Cross. You have just published an article (2) showing interest in patients with cancer receiving treatment, taking into account the biological clock of each individual. What is this therapy?
Francis Levi: We have shown that taking into account the biological clock of patients in the administration of drugs can reduce their toxicity on healthy cells. This is called chronotherapy. It aims to determine the ideal time to administer a drug during chemotherapy, taking into account the internal biological rhythms of the body: rectal temperature, rate of secretion of hormones, the rate of activity of detoxification enzymes liver…

What is the initial idea?
Today, most cancers are treated with chemotherapy alone or in combination with surgery or radiotherapy. Side effects of the chemotherapy are many and can sometimes lead to discontinuation of treatment due to a risk-benefit balance against. The chronotherapy is a solution to minimize these possible effects, or improve the effectiveness of treatment.

Has shown your last job?
Within the European project tempo, we tested the chronotoxicite two molecules, irinotecan, used for the treatment of colorectal cancer, and Seliciclib, under development. In humans, the adverse effects of irinotecan are manifested by severe diarrhea in 30% of patients, a decrease in white blood cells in almost half of cases and a state of extreme tiredness. As for Seliciclib, it can also cause severe fatigue and metabolic disorders. In mice, we administered these drugs at different periods of sleep-wake rhythm that lasts about twenty-four hours. Results: The harmfulness of these molecules varies at least from one to three depending on time of administration. Thus, it is likely that, in humans, irinotecan should be administered at about 5 o’clock in the morning and Seliciclib to 2 am. We have also shown that chronotoxicite depends on sex and genetic makeup of animals.

What this will change for patients?
Based on these results, we will adapt the treatment of patients with programmable pumps (chronopompes). Currently, a dozen cancer services in Europe, the chronopompe is set to profile chronobiological means. Now it will be based on chronobiological profile of each patient. This will enable personalized medicine and ambulatory treatment better tolerated psychologically. Furthermore, we are developing a thermometer implanted that will provide physicians the internal biological rhythm of each patient. This will fit even better treatment. Seven teams are European and testing from 2010 therapeutic methods based on these rhythms.

Collected by Denis Sergent

(1) Research Director at Inserm (Paul Brousse Hospital in Villejuif).
(2) Annual Review of Pharmacology and Toxicology.

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Barrett’s esophagus

Barrett’s esophagus is the squamous epithelium replaced by columnar epithelium in the distal esophagus.

Barrett’s esophagus is a condition in which an abnormal columnar epithelium replaces the normal stratified squamous epithelium of the distal esophagus, a condition that results when there is reflux and gastric juice injures the stratified squamous epithelium, and mucus and heals injured by metaplastic process in which the squamous cells are replaced by columnar cells.

The Gastroesophageal Reflux Disease is one of the more frequent cause of medical Consultation in the erevyday attachment And This Can Reflux Esophagitis go with (Is the Inflammation of the esophagus from reflux Because of the gastricus Towards the esophagus content). Reflux Esophagitis The diagnosis is by Means of Endoscopy, And This method permit the biopsy, That permit us confirm the Presence Barrett `s Esophagus of, a complication often misdiagnosed But whit big FEW clinical relevance.

Barrett’s Esophagus is a premalignant lesion, predispose to Esophageal Adenocarcinoma That, That Is INCREASED preneoplastic pathology STI Incidence in the last years, Even Epidermoid Carcinoma desplacing to.

This work is an study of Barrett `s About Esophagus, emphasizing the Endoscopy with take of biopsy diagnostic model for STIs, and STI Treatment of About, Has Been tested differents alternative of therapeutics, the ones That search the to evade the regression or progression to Esophageal Adenocarcinoma, in Addition Has Been Assayed the indication of endoscopy to followment in the Patients with Barrett `s Esophagus in account the cost HAVING-beneficent relation.

Barrett’s esophagus is a clinical entity that is considered pre-cancerous.

of this statement we must prevent the development of cancer by detecting the disease
because we have ways to remove these lesions.

All patients with chronic gastroesophageal reflux you should look through the endoscope to the tissue at the gastroesophageal junction.

Due to chronic irritation caused by the abnormal reflux of stomach acid into the esophagus, then after several years of irritation the tissues of the esophagus joins the stomach, covering with a defense develop stomach tissue to resist the acid burned .

In these new tissues develop goblet cells resembling those of the small intestine, but with the difference that these new cells are not the same and have the potential to become a union gastric cancer of the esophagus to the stomach.

Lung cancer enzyme

A group of Australian scientists investigating a new treatment for lung cancer through an enzyme capable of controlling the proliferation of hormones that influence the body’s response to the disease, reported the Australian National University.

The researchers, led by Chris Easton and Lucy Cao, working with the monooxygenase enzyme peptidyl-glycine amidante (PAM, for short) and their ability to activate peptide hormones, according to the website HealthCanal.

It is proven that an imbalance in these hormones is the origin of some forms of cancer, and inflammatory diseases and asthma.

Cao said that the greater number of calcitonin, a peptide hormone class, is a patient under your chance to overcome lung cancer.

“So we work on trying to reduce the amount of calcitonin, particularly the control of the PAM enzyme activity,” explained the expert.

“Our results are promising, although we are in the initial stage,” said Easton, explaining that many of the components used in the tests are effective in reducing calcitonin.

“We hope to provide a new drug that improves and extends the life of many patients with lung cancer,” added the scientist.

The work has been published in the latest issue of the journal The Royal Society Chemistry.

Lung cancer is an abnormal growth of cells in the lung and is the most common cause of cancer death in people.

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The largest study to date of prostate cancer test provided further evidence that undergo these tests will not reduce the chances of dying from the disease.

In a study of 20 years to more than 9,000 Swedes, the researchers found no difference between the death rate from prostate cancer among patients who were examined regularly and those who were not.

Routine testing for prostate cancer are controversial and the new results probably will not end with the debate on the merits of that evidence. Opponents argue that such analysis ending in unnecessary biopsies and treatment with little evidence that save lives. The tests are performed by physical examination and blood tests for prostate specific antigen (PSA).

“It can not be ignored the fact that we need a better way … to help detect prostate cancers that require treatment, compared to the innocent who did not require it,” he said in a statement Dr. Malcolm Mason, a specialist in oncology Institute of Cancer Research in Britain.

“Meanwhile, men should be fully informed about the pros and cons of being quantified the PSA,” he added.

The standard blood test to detect prostate antigens detected high levels of a specific antigen. The test is controversial because the PSA level can be elevated for many reasons. A positive result must be confirmed by biopsy.

To be detected prostate cancer, there is no agreement on how best to treat it. Most tumors grow so slowly they never threaten the lives and treatment can have serious side effects, from impotence to incontinence.

“The prostate cancer test did not seem to have had a significant effect on mortality,” wrote Gabriel Sandblom, the Karolinska Institute in Sweden.

The study was funded by the Swedish Cancer Foundation and other groups and published online Thursday by the British Medical Journal.

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It is known as the “silent murderer, but now medical schools and research centers have joined to make a fuss against the theme and bring awareness to the world’s population. Daily Mirror reveals the results of investigations by 10 revealing facts that may help early detection.
FACT 1: This is the fifth most common cancer in women

Although ovarian cancer is technically classified as a rare cancer (the most common are breast, colon, lung and prostate), still affects around 6,700 women each year in the UK.

The risk varies from woman to woman and depends on your age, your genes and your lifestyle. Each woman has between 50 chance of developing the disease during their lifetime, according Target Ovarian Cancer. The risk increases as age increases, with four out of five cases occurring after age 50.

FACT 2: It is a bigger threat than cervical cancer

We’ve all heard of cancer of the cervix, through the NHS screening Pap test.

No wonder a survey conducted by Target Ovarian Cancer found that nearly half of women think that cervical cancer is more of a threat than ovarian cancer.

Unfortunately, this is not true. Ovarian cancer kills about 4,500 women per year compared with just fewer than 1,000 deaths from cervical cancer.

The rate of deaths from cervical cancer are so low is because most women do regular smears – Cancer Research UK estimates that the test saves 4,500 lives a year.

FACT 3: There are some early signs

It was thought that the symptoms do not appear until the cancer had become advanced. But now we know that this is not true.

Research shows that women have symptoms in the early stages of the disease, but lack of knowledge, coupled with the fact that the symptoms are so general that it often overlooked until too late.

In 2008, the NHS National Awareness and Early Diagnosis Initiative identified the three symptoms of ovarian cancer:

- Upset stomach or pelvis.

- Enlargement of the abdomen and persistent swelling in front of the swelling that comes and goes.

- Difficulty eating and feeling full quickly in almost every day.

Less common symptoms are:

- Changes in bowel habits, such as constipation or diarrhea.

- Feeling tired all the time.

- Back pain. But a survey by Ovarian Cancer Action found that 80% of women do not recognize any of these symptoms.

The gynecologist and oncologist Dr. Khalil Razvi Southend University Hospital reports: “Ask your doctor if symptoms persisted for four weeks or more. The most likely not be ovarian cancer, but the symptoms, especially pain. And if it be ovarian cancer, the sooner you are diagnosed and treated, the better your chances of survival.

FACT 4: Over 70% survive – if detected early

If diagnosed in its early stages, the good news is that over 70% of women survive this disease. But right now we have the worst survival rate in Europe – two thirds of women diagnosed with ovarian cancer do not survive beyond five years. Knowing the symptoms is essential – if you are worried, keep track of their own with the new daily symptoms of ovarian cancer.

Visit www.ovarian.org.uk Read the rest of this entry

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The detection of more than one hundred breast cancer gene mutation (BRCA1 and BRCA2 genes), the two major susceptibility to breast and ovarian cancer, it is now possible using a fast and affordable test results are available within approximately 30 days.

The objective of the test BREC 100, marketed in Spain by CGC Genetics is increasing the identification of carriers of mutations in these two genes so they can make early detection techniques appropriate to their risk.

Inheritance of a single mutation of these genes confers a high risk of developing the disease throughout life (between 45 and 85% of breast cancer and 16-63% of ovarian cancer).

Under current protocols, most of the people you identify BRCA1 and 2 mutations in non-high-risk families, so they would not have participated in screening programs appropriate CGC Genetics reported in a statement.

This new test is aimed at men and women with a personal and family history are included within the group of “moderate risk.”

Within this group are, for example, women with two relatives with breast cancer or a family member with ovarian cancer or with several male relatives with prostate cancer.

The study was performed in groups of people including “high risk” is slow and expensive, and so far only 2,000 families have been identified carriers, when it is estimated that at least one of every 300 or 400 people is a carrier of mutation of these genes.

BREC test 100 is made from a blood sample and analysis requires no preparation, and that can be done even without the patient has fasted.

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