Ashkenazi Women & the BRCA Gene

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Who are Ashkenazi Jews?

Ashkenazic Jews are the Jews of France, Germany, and Eastern Europe and their descendants. The adjective “Ashkenazic” and corresponding nouns, Ashkenazi (singular) and Ashkenazim (plural) are derived from the Hebrew word “Ashkenaz,” which is used to refer to Germany. Most American Jews today are Ashkenazim, descended from Jews who emigrated from Germany and Eastern Europe from the mid 1800s to the early 1900s. The pages in this site are written from the Ashkenazic Jewish perspective.

What is the BRCA gene? 

Women who carry the BRCA gene mutation face a much greater chance of developing breast and / or ovarian cancers. More than 200 mutations have been identified, three of which are typical to Ashkenazi Jews. There is a 2.5% risk of carrying this mutation.

BRCA STATS

1 in 40

Ashkenazi Jews – men and women – that carry a BRCA gene mutation

10%

Ashkenazi Jewish women that are diagnosed with breast cancer in the US who have a BRCA 1 or 2 mutation

1 in 800

People in the general population that have a BRCA 1 or 2 mutation

19%

Jewish male breast cancer cases that carry the germline BRCA mutation

12%

The average woman in the United States has about a 12 percent risk of developing breast cancer over a 90-year life span

15% to 40%

Women with a BRCA1 or BRCA2 gene mutation have a lifetime risk of 15 to 40 percent for developing ovarian cancer

79%

The 5-year survival rate for relatives of carriers of BRCA1 mutations

New Breast Cancer Treatment Options

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New breast cancer blood test could improve treatment options in more serious cases

‘Liquid biopsy’ detects tumor DNA and can track alterations in 13 different genes.

 

Women with advanced stages of breast cancer could receive potentially life-extending personalized treatment after taking a new blood test that detects tumor DNA.

The test, known as a “liquid biopsy”, can detect and track alterations in 13 different genes, including some of the most important drivers of the disease.

For patients whose cancer has spread beyond the breast and nearby glands – the most deadly stage of the disease – the new test could be used to improve and individualize their treatment as the disease progresses, researchers have said.

Around 10 percent of women have metastatic, or stage four, breast cancer at the time of their diagnosis, according to cancer support charity Macmillan. The average survival rate is around two years.

This is the first time scientists have been able to analyze two kinds of acquired DNA mutation in a single blood test. In addition, the test can spot mutations in the estrogen receptor gene ESR1, linked to resistance to anti-hormone therapies such as aromatase inhibitors.

“This study represents proof of concept, and further validation is now needed to confirm the clinical usefulness of this test before any test could be rolled out…The researchers may have developed a way to track breast cancer as it grows, allowing doctors to act swiftly and give patients the treatments that are right for them as early as possible. On top of that, such a tailored approach could spare patients receiving drugs, and the side effects that go with them, that aren’t likely to work.”

Source: http://www.independent.co.uk/news/health/breast-cancer-blood-test-new-treatment-improve-detect-tumour-dna-liverpool-uk-advanced-metastatic-a7862241.html

Tumor Test Helps Identify Which Breast Cancers Don’t Require Extra Treatment

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Tumor Test Helps Identify Which Breast Cancers Don’t Require Extra Treatment

For years, doctors have focused on detecting breast cancer at the earliest possible moment after a tumor develops so treatment can start right away. But more and more studies are showing many small, early tumors don’t present a danger.

So, when is it safe to remove a tumor but skip additional treatments like tamoxifen, chemotherapy and radiation?

study published Thursday in JAMA Oncology suggests that it may be possible to distinguish fairly precisely between “ultra low-risk” tumors that are unlikely to cause problems and those that are more aggressive and likely to spread — thus allowing some patients to avoid unnecessary treatments.

Researchers in the U.S. and Sweden used a diagnostic test called MammaPrint to measure a tumor’s genomic “fingerprint” and compared it with survival time after a tumor was removed. They say they were able to pinpoint patients who had a very low risk of death from breast cancer — even up to 20 years after the first diagnosis.

MammaPrint is a genomic test that looks at a set of 70 genes in a tumor, showing how the genes are controlling the production of the proteins that drive a tumor’s growth. A genomic test of the tumor, which measures how genes are functioning, differs from other genetic tests that determine someone’s hereditary risk of cancer.

The tumor test was approved by the Food and Drug Administration in 2007 to predict whether an existing cancer has the ability to spread. It’s priced at $4,200 and is covered by some insurance plans in the U.S.

 

Source: http://n.pr/2s6VO4v

Effective Immunotherapy Steps Closer With New T Cell Study

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Effective Immunotherapy Steps Closer With New T Cell Study 

In a recent study, researchers report some progress in developing an immunotherapy for ovarian cancer. However, they also outline the considerable challenges that remain before the treatment can be made effective for this and other cancers that have solid tumors.

The researchers presented the findings at the annual meeting of the American Association of Cancer Research in Washington, D.C. Estimates from the American Cancer Society  suggest that, in the United States, around 22,440 women will be diagnosed with ovarian cancer and approximately 14,000 will die from the disease during 2017.

The cancer begins in cells of the ovaries – reproductive glands found only in women. Each woman normally has two ovaries, situated on each side of the uterus inside the pelvis. The ovaries produce eggs that travel to the uterus through the fallopian tubes.

Dr. Kristin Anderson, an immunotherapy researcher who presented the findings at the meeting, says that while ovarian cancer is not as common in the U.S. as other cancers with solid tumors, it has a low rate of survival and a high rate of relapse. The main reason is that the cancer does not cause obvious symptoms and is often advanced by the time it is diagnosed.

Immunotherapy is a relatively new area of medicine that is showing promising results in the treatment of cancer. The approach uses the patient’s own immune system to fight disease.

The new study concerns a method called adoptive T cell transfer. In this approach, immune cells called T cells are taken from the patient’s own blood and trained to target and destroy cancer cells. Then, after multiplying in the laboratory, the primed cells are returned to the patient’s body. Sometimes donor cells are used instead.

The team hopes to start a human clinical trial of adoptive T cell transfer for ovarian cancer in the next few years.

My Breast Cancer Story by Rebecca Guenther

 

In March of 2013 after a routine mammogram I received a diagnosis of breast cancer. After discovering that I was a carrier of the BRCA2 mutation I had a bilateral mastectomy in April, breast reconstruction and ovarian removal in May. Fortunately, the cancer was small, only in one breast, and hadn’t spread to the lymph nodes, so I didn’t have to undergo chemotherapy. The reconstruction was difficult and long, but I recuperated fairly quickly from the multiple surgeries (probably due to my high level of fitness as a runner). I celebrated my recovery by running the New York City Marathon on Nov. 3, 2013, between stages of breast reconstruction. I raised about $5,000 for the Dublin Breast Center at Mount Sinai Hospital.

Running the marathon was a way for me to say to breast cancer that I would fight it and not let it get me, and it gave me a sense of control over my body. It made me constantly reflect on my mortality and the lack of control over my body, even though I’ve done everything I could to be fit and healthy my entire adult life. I’ve been a runner since the late 1970s, when I was in my 20s, and have always eaten a healthy, low-fat diet. During the marathon, I felt strong and determined. When I ran up 5th Ave by Mount Sinai Hospital where I had been treated I was overcome by emotion.

A few days after the 2013 marathon I had the tissue extenders replaced with implants, which involved another recovery period. After that I continued to run, improving my times until in late September of 2015 my son, then age 34, suddenly died of a burst ulcer while he was living in Peru. The overwhelming grief and anxiety affected my running and stamina and I realized the strong connection between emotional and physical health. While experiencing chest pain (that ultimately was determined to be related to the grief), I found out that I had yet another hereditary condition—a high percentage of Lipoprotein-A, which is a particle in the blood that carries cholesterol, fats and proteins, causing a build-up of fatty deposits in the arteries and thus an increased risk for heart attack and stroke. It isn’t affected by diet and exercise– another thing that gave me less control over my body. Shortly before my son’s death, my then 29-year old daughter tested positive for the BRCA2 mutation, which is a source of anxiety for both of us.

We never know what the next big test in life will be, and many things are out of our control—but knowing that people are willing to make sacrifices to help combat cancer and other diseases can give us some comfort.

Weight Linked to Prostate Cancer Diagnosis

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Prostate cancer is one of the most common types of cancer among men over the age of 60 in the U.S.

According to David Levy, M.D., of Cleveland Clinic, “for the last couple of decades, one of the prevailing correlations has been weight and it seems over a number of different studies that have been done, higher weight correlates with more aggressive prostate cancer,” said Dr. Levy.

A study conducted by Cleveland Clinic looked at 69,873 men over the course of of 13 years. Researchers found that fatal prostate cancer risk was increased in men who had a normal BMI or who were overweight at age 20 and later became obese, compared with men who maintained a normal BMI.

However, lesser aggressive forms of prostate cancer did not show an association to BMI.

Dr. Levy said it’s difficult to point to any one specific factor of being diagnosed with prostate cancer, such as a person’s weight by itself, as a determining factor for prostate cancer risk. He says that exercise, diet and supplements all play a role as well.

“Dietary factors- meat and dairy – high fat diets from animal proteins, in other words, high omega-6 fatty acid diets from the hamburgers, the hot dogs, the fried chicken, the chicken wings, those sorts of things, play a significant role in the genetics of prostate cell behavior,” said Dr. Levy.

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Source: KDRV.com, Fox News,  http://bit.ly/2mskp4g

New Gene Linked to Greater Risk of Brain & Ovarian Cancers

New Gene Linked to Greater Risk of

Brain & Ovarian Cancers 

Genetic changes and variants linked to the development of brain and ovarian cancers have been discovered in two new studies. This significant development offers researchers the chance to understand more about how these cancers develop and how they may one day be treated or even prevented.

The two studies scanned the genomes of tens of thousand of individuals with and without these forms of cancer and revealed 13 new gene mutations linked to increased risk of glioma — the most common form of brain cancer — and 12 new gene variants that increase the risk of developing ovarian cancer.
One of the genetic changes discovered increases risk of brain cancer by as much as a third, with the rest by at least 15%.
Prior to the new study, 23 gene variants were already known to be linked to an increased risk of ovarian cancer, said Kuchenbaecker. This study identified an additional 12. The findings might also one day help people with a family history become better informed about their risk of developing a brain tumor so they can be aware of any signs of the disease.
“We urgently need to find new ways to tackle hard-to-treat cancers like brain tumors. Finding new genetic changes linked to brain tumors could give us important new clues about how and why these cancers develop,” said Dr. Catherine Pickworth, Cancer Research UK’s science information officer.
“The next steps will [be] finding out if any of these clues help to develop effective treatments for people with brain tumors.”

HELP ERADICATE

BREAST AND OVARIAN CANCER

Join us for the seventh annual Cheryl Diamond NYC 5K SCHLEP: Breast & Ovarian Cancer Run / Walk on Sunday, June 4th, 2017 at Battery Park, NYC.

The NYC 5K SCHLEP raises global awareness for BRCA genetic screening for breast & ovarian cancer, supports global research studies on breast and ovarian cancer cures, and BRCA mutation carriers, and benefits the BRCA Multidisciplinary Clinic at Israel’s Rabin Medical Center, the premier hospital in the Middle East.

To register your team, please visit http://www.afrmc.kintera.org/SCHLEP17 or call the American Friends of Rabin Medical Center office at 212-279-2522 or email afrmc@afrmc.org.

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Source: cnn.com

FDA Approves New Drug For Advanced Breast Cancer

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U.S. regulators have approved a new drug called Kisqali as an initial treatment for postmenopausal women with a type of advanced breast cancer . The U.S. Food and Drug Administration confirmed the approval on March 13. Novartis said it will offer patients several types of financial assistance and many won’t have to make co-payments.

Kisqali, developed by Novartis AG, is a pill that works to slow the spread of cancer by blocking two proteins that can stimulate growth and division of cancer cells for women who have metastatic breast cancer known as HR+/HER2-.

According to the American Cancer Society, about 40% of U.S. women diagnosed with breast cancer have this type.

“This is an important therapy for these patients” who have limited options, said Dr. Vas Narasimhan, chief medical officer and head of drug development at Novartis.

Kisqali, part of the drug class called kinase inhibitors, is taken daily for three weeks, followed by a one-week break. Meanwhile, patients also take either letrozole or another aromatase inhibitor, depending on the characteristics of their disease, for the entire four-week cycle.

A four-week supply of Kisqali, or 21 pills, will have a list price of $10,950 for the strongest dose — 600 milligrams. The 400-milligram dose will cost $8,760 and the 200-milligram dose $4,380, Novartis said.

A study of 668 women funded by Novartis found that Kisqali reduced the risk of death or the cancer worsening by 44 percent, compared to those receiving only letrozole.

Novartis said it’s conducting additional Kisqali studies in combination with other treatments, and in women who haven’t yet begun menopause. Results should be available late this year or early next year, the company said.

WHAT ARE WE DOING TO ERADICATE THIS DISEASE?

Join American Friends of Rabin Medical Center for the seventh annual Cheryl Diamond NYC 5K SCHLEP: Breast & Ovarian Cancer Run / Walk on Sunday, June 4, 2017 at Battery Park, NYC.

This vital event raises global awareness for BRCA genetic screening for breast & ovarian cancer, benefits global research studies on breast and ovarian cancer cures, and BRCA mutation carriers and benefits the BRCA Multidisciplinary Clinic at Israel’s Rabin Medical Center, the premier hospital in the Middle East.

Run / Walk / Donate TODAY! Register here: www.afrmc.kintera.org/SCHLEP17

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Source: The Associated Press