A World Without Cancer – Guest Post

Dr. Margaret Cuomo is the author of “A World Without Cancer: The Making of a New Cure and the Real Promise of Prevention;” she is a board-certified radiologist who served as an attending physician in diagnostic radiology at North Shore University Hospital in Manhasset, N.Y. for many years. She was the keynote speaker at the T.J. Martell Foundation’s inaugural Women of Influence Awards at Riverpark in New York City.

We are honored to share her perspective here on Angelina Jolie’s courageous decision regarding the discovery of her BRCA1 genetic mutation and subsequent bilateral (aka “double”) mastectomy, as well as the implications for the cancer community.

Dr. Margaret Cuomo is the author of “A World Without Cancer: The Making of a New Cure and the Real Promise of Prevention.”

Angelina Jolie has my admiration for her courage in publicly describing her decision to undergo a bilateral (aka “double”) mastectomy. Her BRCA1 genetic mutation significantly increases her risk of developing breast cancer and ovarian cancer.

According to Jolie’s New York Times op-ed piece, her doctors estimated that she has an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer. Women who have inherited BRCA1 and BRCA2 mutations account for 5 to 10 percent of breast cancers and 10 to 15 percent of ovarian cancers (for white women) in the United States, according to the National Cancer Institute.

Knowing that her own mother died at the age of 56 following her battle with cancer, Angelina Jolie, the mother of six children, decided to be pro-active, and decided to sharply reduce her risk of breast cancer by undergoing the mastectomy.

The question that I hope many women are asking is: “Is this the best that we can do in the 21st century?” After 41 years and more than 90 billion dollars spent since the War on Cancer was declared, we should expect more effective and less invasive solutions to reducing breast cancer, and all cancers.

Are the National Cancer Institute and the pharmaceutical industry committing enough of their intellectual and financial resources to the discovery of safe, new ways of detecting breast cancer and ovarian cancer in their earliest stages?  If a patient has a BRCA1 or BRACA2 mutation, are there techniques available to “turn-off” the faulty genes?

Is there a sense of urgency about finding new tests to detect breast cancer and ovarian cancer, and other cancers, that do not involve radiation – a known carcinogen?

The prevention of cancer should be our ultimate goal and it should have the full benefit of the National Cancer Institute’s and industry’s vast resources.

Our children are our future, and we should expect that their generation will prevent cancer without the traumatic solution that Angelina Jolie felt obliged to accept.

Genetic Evaluation and Testing for Cancer – Guest Post

Many thanks to Georgia L. Wiesner, M.D., Director, Vanderbilt Hereditary Cancer Program, for this informative guest blog post.

Recent headlines about Angelina Jolie, a well-known actress and movie producer, and her decision to have a prophylactic bilateral mastectomy to reduce risk for breast cancer have taken the world by surprise. In a recent article, Ms. Jolie outlined her genetic evaluation in which she was found to be the carrier of a mutation in a gene called BRCA1. Because of her gene status, she decided to reduce risk for breast cancer by removing her normal breast tissue.

Why would someone choose to have such a “radical” response to cancer risk? In order to understand the dilemma that many people face, it is important to know that Ms. Jolie’s situation is relatively unusual. In fact, mutations in BRCA1 and BRCA2 only account for 5 percent to 10 percent of breast cancers and 10 percent to 15 percent of all ovarian cancers every year. If a person is found to have a high-risk mutation, then prophylactic surgeries are one of several high-risk management options.  In addition to surgery, there are certain medications as well as enhanced screening and surveillance available for these patients. An important point is that anyone considering this option should be evaluated by a specialist prior to making such an important decision.

The next question might be “how does someone know whether they are at high-risk for cancer?” Fortunately, there are genetic specialists and other health professionals who can help patients understand whether they are at high risk for cancer and then guide patients through the process of genetic testing. The process of genetic evaluation risk assessment and counseling is a new area of medicine called cancer genetics. Genetic professionals will use details from the family history to determine whether testing is a reasonable option.

The Vanderbilt-Ingram Cancer Center, a recognized leader in genetic medicine for cancer, has recently established the Clinical and Translational Hereditary Cancer Program with the primary mission to care for patients and families at high risk for cancer. Importantly, after patients are seen in the Hereditary Cancer Clinic, they can be referred to other caregivers, such as surgeons or high-risk nurse practitioners for further care.

Main Points

  • A small number of people will have an inherited risk for cancer
  • It is important to know your family history of cancer
  • Genetic evaluation and counseling is the first step in understanding cancer risk
  • The VICC Hereditary Cancer Clinic at Vanderbilt University Medical Center is open to all patients for full evaluation and counseling
  • Appointments can be made by calling (615) 343-7400

Georgia L. Wiesner, M.D.
Director, Vanderbilt Hereditary Cancer Program
Ingram Professor of Cancer Research and Professor of Medicine

Vanderbilt Researchers Find Potent Genetic Risk Factor for Breast Cancer

Researchers at Vanderbilt University have found a powerful new genetic risk factor for breast cancer.

Using data from population-based studies of women in Shanghai, China, Jirong Long, Ph.D., assistant professor of Medicine, and colleagues discovered a deletion in a cluster of genes, called APOBEC3 genes, that are known to trigger DNA mutation and which have previously been implicated in cancer.

If a woman has a deletion in one of the two sets of genes she inherits from her parents, her risk of breast cancer increases by 31 percent. If the deletion is present in both sets of genes, her risk increases by 76 percent.

“This is the first copy number variation or CNV identified for breast cancer and is one of the strongest common genetic risk variants identified so far for breast cancer,” the researchers reported in the Journal of the National Cancer Institute.

For the full article, please click here.

Coping with a Cancer Diagnosis

October is Breast Cancer Awareness Month, and we are excited to feature several guest bloggers on this topic. Today’s post is from Jimmie C. Holland, MD, Wayne E. Chapman Chair in Psychiatric Oncology and Attending Psychiatrist at Memorial Sloan-Kettering Cancer Center. She offers these tips for families who are dealing with a recent diagnosis:

1)      Communication is critically important between all members of the family. The more open and transparent it is, the better. Secrets usually turn out not to be helpful.

2)      Recognition of the stress on all family members. There is often a need for a family member to take on a new role (eg managing the household, cooking and caring for the patient) while also assuring that the job of the breadwinner continues. The role changes are difficult, both for those taking the new role, and for the person who is ill who must relinquish control and prior role to others; a “new normal” must be accepted by all.

3)      Frustration and even anger are going to occur; it should be identified as normal in these circumstances and become a topic for discussion among family members, often bringing them closer to one another by understanding how it feels to each one.

4)      There are families who pull together under stress and become all the stronger for it. They usually manage without help. However, some families lack cohesiveness and members are unable to support one another as would be helpful. It is important that these families ask for help. The American Psychosocial Oncology Helpline can help you find counselors in your community who can help: 1-866-276-7443.

Jimmie C. Holland, MD
Wayne E. Chapman Chair in Psychiatric Oncology
Attending Psychiatrist
Department of Psychiatry & Behavioral Sciences
Memorial Sloan-Kettering Cancer Center

Managing Breast Cancer Risk

October is Breast Cancer Awareness Month, and we are excited to feature several guest bloggers on this topic.  The first is Dr. James Holland, Distinguished Professor of Neoplastic Diseases  at Mount Sinai School of Medicine and the T.J. Martell Foundation’s Founding Research Scientist:

Every woman must think of breast cancer as a risk that can be managed better by attention than by negligence.

–  Starting at age 50 (and many think at age 40) mammograms are of great value in early diagnosis.

–  Other supplementary diagnostic methods include sonography and magnetic resonance imaging.

–  Self examination can help; professional examination is much better.

Early diagnosis markedly improves curability.

–  Although there are some known genetic predispositions, they account for less than one in ten breast cancers, and thus no woman is exempt.

– Although breast cancer occurs in men, the great preponderance in women establishes that estrogen is a critical component of its development.

– Post-menopausal hormonal replacement increases risk.

On prevention:

– Exercise is one preventive, and is free.

– Drugs that diminish estrogen effect on breast tissue, such as tamoxifen or raloxifen are valuable in women at high risk.

– We do not yet have a universal preventive, however.

Improved treatments:

– For early breast cancers removal of the entire breast is rarely needed.  Preservation of the breast is psychologically advantageous.

– After surgery, and sometimes even before, hormone therapy, radiation therapy,  chemotherapy and immunotherapy may all have roles to play in specific instances.

– Cure is possible most of the time, and even in the minority who are not cured, there are usually major benefits of treatment.

The day will come when we know how to prevent many if not most breast cancers without seriously compromising normal life (as has been true for lung cancer by tobacco avoidance, for skin cancer by sunshine avoidance, and for penile cancer by circumcision). Until then, alert attention, not fear, is the best path for today’s woman.

James F Holland MD
Distinguished Professor of Neoplastic Diseases
Mount Sinai School of Medicine