Spring 2010   

Welcome to the Yale Cancer Center Genetic Counseling Program newsletter. Generations is a bi-annual publication written to provide the latest information on cancer genetic counseling and supportive care concerns. We hope you find this issue of generations helpful and welcome your suggestions for future topics.



In this issue:


Strong Family History Prompts Genetic Testing
By Karina Brierley, MS

Both Margaret's mother and father were diagnosed with breast cancer. For this reason, she knew there was a strong possibility that she herself may be genetically predisposed to the disease. Although it was suggested that she have genetic testing at the time of her parent's diagnoses, it wasn't until several years later that she felt ready to receive genetic testing and find out her own risk for developing the disease.
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Mammo

Screening for Breast Cancer: Making Sense of the Recommendations for Average and High-Risk Women
By Karina Brierley, MS
In November 2009, the United States Preventive Services Task Force (USPSTF) released new breast cancer screening guidelines. Unfortunately, this ill-timed release coincided with debate over healthcare reform leading to strong emotional reactions, misinformation, and controversy. Hopefully, with some time and distance, we can focus on the facts and expert opinions to better understand these guidelines for women at average-risk and also examine new data on the breast cancer screening options for women at high-risk.
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Genetic Testing Company May Be Discouraging
Your Doctor From Referring to Genetics Experts: Get
the Facts
By Rachel Barnett, MS
Over the last year, commercial genetic testing companies have aggressively targeted doctor's offices throughout the country to encourage them to order genetic testing for their patients without counseling from a genetics expert. These marketing tools have led to an increasing number of claims nationwide that patients are receiving "either too little or the wrong information about their genetic risk of developing cancer from companies marketing the tests," said Sue Friedman, Director of Facing Our Risk of Cancer Empowered (FORCE). It is important to keep in mind that few clinicians have the infrastructure in their office to provide long-term follow-up for patients who carry a mutation, coordination of testing for family members, and methods of re-contacting patients when new laboratory techniques and additional testing become available. Also, few doctors have extensive training in genetics, and are thus limited in their ability to interpret complex test results. In addition, the testing companies are not educating doctors about other hereditary cancer syndromes and genetic tests that may be offered by different testing companies, and, therefore, may be providing unbalanced and biased information to your doctor. This has led, in some cases, to misinterpreted test results, wrong genetic tests being ordered, and unnecessary surgery.
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Journal Clips
Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers.
J Clin Oncol 2009: 27:5887-5892.
BRCA carriers are born with a copy of a BRCA mutation in almost all of the cells in their bodies, including all of the cells of both breasts. For this reason, we have always suspected that BRCA breast cancer survivors are at increased risk to develop a new cancer in the other (contralateral) breast. This large German study confirms that suspicion. The cumulative risk for a contralateral breast cancer 25 years after the first cancer was 47.4%, with risk being greater in BRCA1 carriers. Younger age at first breast cancer diagnosis increased the risk of developing a contralateral breast cancer. Patients should be offered genetic counseling and testing before making a surgical decision, since the results may alter their risks and choices.
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Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.
J Clin Oncol 2010: 28:240-244.
In this small study of 82 women who were diagnosed with breast cancer and offered the option of stimulating their ovaries and freezing embryos or eggs to preserve fertility, 57% (47) had undergone BRCA testing and 12 carried true mutations. Compared with controls, BRCA1 carriers produced lower numbers of eggs and had a higher likelihood of low response to the fertility medications. Further studies in this area are needed before conclusions can be drawn regarding BRCA1 mutations and fertility.
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Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers.
J Clin Oncol 2010: 28:222-231.
This study is a statistical estimate (called a decision analysis) of survival for BRCA carriers based on several possible intervention choices. It is important to remember that this is not a clinical trial based on actual patient outcomes. These researchers estimated that for BRCA carriers who choose no intervention (surveillance or surgery) survival rates by age 70 would be 53% for BRCA1 and 71% for BRCA2 carriers. They estimated the most effective single intervention to be prophylactic bilateral salpingo-oophorectomy (BSO) at age 40 for BRCA1 carriers, and prophylactic bilateral mastectomy at age 40 for BRCA2 carriers (because the risk of ovarian cancer is greater in BRCA1 carriers). The combination of both interventions at age 40 would yield a 24% survival gain for BRCA1 and 11% for BRCA2 carriers. There are several limitations in this analysis. First, this is based on a statistical decision analysis and not a randomized clinical trial (which would not be possible, because you could not randomize patients to surgery or surveillance). Second, it did not consider the impact of prophylactic use of tamoxifen/raloxifene to reduce the risk of breast cancer. Third, it did not consider the impact of hormone replacement therapy after BSO to reduce the risks of fractures and dementia.
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Editor's Letter
By the time this newsletter reaches you, it will be spring! And we will be well into 2010 and starting a new decade. As you will read in this edition of Generations, we continue to make great strides in Cancer Genetics. Ten short years ago this field was new and we had little long-term data regarding many hereditary cancer syndromes. We now have multiple, long-term studies that help to guide prevention and treatment and are excited to see what new options will become available within the next ten years. We hope that this new year finds you and your families healthy and well, and that you'll enjoy reading about the many advances in Cancer Genetics.

Sincerely,
Karina L. Brierley, MS
Rachel E. Barnett, MS
Danielle Campfield, MS
Ellen T. Matloff, MS

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Resources
Yoga Bear
This non-profit organization assists cancer survivors in locating free yoga classes at a studio in their area. Free passes usually range from 10 weeks to six months. To be eligible you must have finished treatment for cancer, be over the age of 18, have discussed yoga participation with your doctor, and make a commitment to the practice of yoga. Yoga studios can also donate studio time to the Share-A-Mat program on this site.
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Live Strong at the YMCA
The Lance Armstrong Foundation and the YMCA have joined forces in promoting wellness after cancer treatment. This partnership aims to assist cancer survivors to return to their physical activity after treatment. Currently, there are limited YMCA sites across the country that offer this program; however, more sites are scheduled to be added this year. Keep checking the website for a site near you.
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Compassion Books
This website offers a large selection of books, videos, and audio tapes to assist adults and children of all ages with difficult subjects such as grief, death and dying, and a serious illness such as cancer. All resources have been professionally reviewed and selections can be ordered directly from this site.
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My Family History
Researching your family history is an important first step in discovering your own personal health history. To learn how to get started and find online tools to help with genealogy, please go to
My Family History >>




Stories of Survivorship from Yale Cancer Center

survivor1
Dedicated to tomorrow's generations
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survivor2
Dedicated to tomorrow's reward
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survivor3
Dedicated to tomorrow's path
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The sentiment of The Hope Chest is to ensure that genetic counseling, and the hope of early detection, risk reduction, prevention, and cutting-edge research, will be passed on to the next generation.
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Program Director
Ellen Matloff, MS

Medical Director
Allen Bale, MD

Counselors and Contributing
Writers

Rachel Barnett,MS
Karina Brierley,MS
Danielle Campfield,MS

Director, Public Affairs and Marketing
Renee Gaudette

Yale Cancer Center Genetic
Counseling Program

yalecancercenter.org/genetics
55 Church Street, Suite 402
New Haven, CT 06510
P 203.764.8400 F 203.764.8401

Yale Cancer Center's communications are written to inform the public and the Center's friends, volunteers, donors, and staff on current items of interest at Yale Cancer Center. All inquiries should be addressed to Renee Gaudette, Director of Public Affairs and Marketing, 157 Church Street, New Haven, CT 06510-2100.

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