Spring 2011   

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:

Family is RELENTLESS Against Cancer
Nathan Shatsoff was a healthy, athletic college student who was enjoying life. He got a bad cold and cracked a rib from coughing and became concerned when the ache in his side didn't go away, and went to a local doctor for a check up. Nathan, his doctor, and his entire family were shocked when he was diagnosed at the age of 21 with stage IV colon cancer. He described the diagnosis as being very lonely, as this disease is mostly reserved for people much later in life. Two years after his diagnosis, Nathan is approaching his 50th chemotherapy treatment. Nathan has the most advanced case of colon cancer any doctor he has been to has seen in such a young person. However, his prognosis and treatments have not stopped him from fighting against cancer for himself, his family, and future patients.


What Can I Do to Reduce My Risk of Getting Cancer?
We see many patients due to their concerns about hereditary cancer risks. However, only ~10% of all cancers are due to a hereditary cause. As we prepare this newsletter during the time of New Year's resolutions, our thoughts turn to resolutions or lifestyle choices that could actually lower cancer risks. It has been estimated that ~50% of all cancers are preventable through lifestyle modifications and many of these same choices reduce the risk of other diseases including stroke, heart disease, and diabetes. It is not clear if or how these lifestyle modifications will affect risk in individuals with a hereditary predisposition to cancer but several studies suggest that some may also reduce risks in high risk individuals.



Estrogen Sprays: Proceed with Caution
Women who carry a BRCA mutation are often advised to have their ovaries removed preventively, and women who carry a Lynch syndrome mutation are advised to have a total hysterectomy based on the respective cancer risks associated with each syndrome. Pre-menopausal women who have never had cancer may be excellent candidates for hormone replacement therapy after this surgery to offset the symptoms and risks of surgical menopause.

Hormone replacement therapy is available in many dosages, forms, and modes of delivery. Women may take this medication via tablet, patch, cream, or transdermal spray. Evamist is intended to be sprayed on the forearm between the wrist and elbow and to be absorbed through the skin (transdermally). Recent data show that transdermal HRT may pose a risk to children and pets who come into contact with this medication. Exposure to this medication may cause nipple swelling and breast enlargement in girls, breast enlargement in boys, and mammary and nipple enlargement and vulvar swelling in pets. The FDA is currently reviewing eight reports of adverse events in children between the ages of 3 and 5 years, and two reports concerning dogs that were exposed to Evamist. In some cases, symptoms apparently resolved after skin contact with Evamist stopped. Patients can reduce exposure by wearing clothing that covers the skin where this medication has been applied. If children touch treated areas, their skin should be washed with soap and water as soon as possible.

This is of particular concern to pre-menopausal female mutation carriers, who are more likely to have young children in the home. Exposure to children and pets should be avoided in all cases, but has special implications for mutation positive families in which children are at 50% risk for their parent's mutation.



In the News
Rebecca Behrends, PhD
We are sad to announce that our friend, colleague, and team psychologist, Rebecca Behrends, died on September 11, 2010. Many of you met with Rebecca during your genetic counseling journey and knew her to be a kind and gifted psychologist. Donations in Rebecca's memory can be made to 'The Rebecca Project', c/o Ellen Matloff, 55 Church Street, Suite 402, New Haven, CT 06510.


Sexuality, Intimacy and Menopause (SIMS) Clinic at Yale
A new clinic specializing in sexuality, intimacy, and menopause is now open at Yale. This clinic features 30-minute appointments that include a consultation with a sexuality and menopause physician, as well as a therapist specializing in this area. This clinic is a great opportunity for patients undergoing prophylactic removal of ovaries, especially before menopause. Appointments can be made by calling (203) 200-4176.



Research Updates
Rate of BRCA1 and BRCA2 Mutations among Women with Fallopian Tube Cancer
Gynecologic Oncology 2010 118:299-302.
This study performed genetic testing on a large series of women diagnosed with fallopian tube cancer from the Ontario Cancer Registry and Cedars Sinai Medical Center in Los Angeles, CA. Out of 108 women with fallopian tube cancer, 33 (30.6%) were found to carry a BRCA1 or BRCA2 mutation. Higher rates of mutations were found among women with a family history of breast or ovarian cancer, women of Ashkenazi Jewish ancestry, and women diagnosed under age 60 with fallopian tube cancer. The highest rate of mutations (71.4%) was found among women who had also had a previous diagnosis of breast cancer. Based on this data, all women with a diagnosis of invasive fallopian tube cancer should be offered genetic counseling and testing.


Association of Risk-reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality
JAMA 2010 304(9):967-975.
This international study followed ~2500 women with BRCA mutations for an average of 3 years to determine the reduction in cancer risk and the reduction in the risk of dying associated with preventative surgeries. The results were examined separately for women who did or did not have a previous breast cancer diagnosis and for women with BRCA1 vs. BRCA2 mutations. During the ~3 years of follow-up, none of the women who chose to have bilateral mastectomy developed breast cancer compared to ~7% of the women who did not have mastectomy. Prophylactic removal of the ovaries and fallopian tubes (bilateral salpingo-oophorectomy or BSO) significantly reduced the risk of developing an ovarian-type cancer in both women with BRCA1 or BRCA2 mutations and women with or without a prior diagnosis of breast cancer. Among women who had BSO, only 1.1% later developed ovarian-type cancers. BSO also significantly reduced the risk of a first breast cancer by 37% in women with a BRCA1 mutation and by 64% in women with a BRCA2 mutation. In addition, the likelihood of dying from any cause, from breast cancer specifically, or from ovarian cancer specifically was significantly lower in women who underwent BSO.

A special thank you to all of our patients who completed questionnaires, which contributed to this important study.


What I Wish I'd Known Before Surgery: BRCA Carriers' Perspectives after Bilateral Salpingo-oophorectomy
Fam Cancer. 2011 Mar;10(1):79-85.
In this publication, we surveyed 98 women who carry a BRCA and had had prophylactic bilateral salpingo-oophorectomy (PBSO) about their post-surgery symptoms, their recollection of pre-surgical conversations with their health care providers, and what information they would have found helpful prior to surgery. The 5 most common post-surgical symptoms were: vaginal dryness (52.1%), changes in interest in sex (50.0%), sleep disturbances (46.7%), changes in sex life (43.9%), and hot flashes (42.9%). The majority of women reported that the potential for hot flashes, night sweats, and vaginal dryness as well as the impact of surgery on their ovarian and breast cancer risks, menopausal status, osteoporosis, childbearing ability, and their surgical options were all discussed by their healthcare providers prior to surgery. However, 60% of the most commonly reported symptoms (changes in libido, changes in sex life, and sleep disturbances) were not discussed pre-operatively and ~60-80% of participants report that the availability of sex counseling and the impact of surgery on body image, sex life, and coronary artery disease were never discussed by their healthcare provider. Most women would have liked to have more information about the availability of sex counseling and the impact of surgery on their sex life and their coronary heart disease risk. However, the majority of participants would pursue this surgery again (96.9%) and would recommend PBSO to another BRCA carrier (97.9%). When asked about advice for other BRCA carriers, most recommended the surgery, encouraged them to get as much information as possible, and recommended talking with others.

We would also like to extend a special thank you to our patients who participated in this important study.

Editor's Letter
By the time you receive this newsletter, the mountains of snow will have melted and spring will finally be here! In this issue of our newsletter you will read about some simple and straightforward changes you can make in this New Year to reduce your overall risk of developing cancer. Even modest lifestyle changes could make a difference to your cancer risk and your general health. Please also read summaries of two medical publications that many of you made possible through your research contributions to our program. Research studies like these make a huge difference to medical practice in the United States and around the world --- so congratulations on making a difference and thank you for your ongoing help with these studies!

Karina L. Brierley, MS
Rachel E. Barnett, MS
Danielle Campfield Bonadies, MS
Shenela Lakhani, MS
Ellen T. Matloff, MS

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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 >>




Cancer and Sex: How Cancer Affects your Sex Life
This article is full of suggestions to help cancer survivors reclaim their sexuality and become proactive in developing their sex lives. At the end of the article, the author lists inspirational resources that may be helpful to patients struggling to resolve the sexual side effects of a cancer diagnosis and treatment.
Learn More >>



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Exploring Self-Esteem and Intimacy
Many cancer survivors and their partners are faced with challenges of coping with emotional and physical changes in their intimate lives. The American Cancer Society has developed a free online class exploring self-esteem and intimacy issues. The online course touches on myths and intimacy, self-esteem, emotional and physical intimacy, issues for the single person, a chapter on 'ask your doctor', a tailored chapter specifically for the caregiver, and additional resources for patients and their caregivers.
Learn More >>

cancer.net logoSexual and Reproductive Health
Online resource approved by the American Society of Clinical Oncology for patients looking for information on the possible side effects that cancer and cancer treatments may have on sexual and reproductive health, such as pregnancy, fertility, menopause, body image, and sexual dysfunction. This website allows patients to focus on specific issues that they are most concerned about and provides additional links and further resources in each area.
Learn More >>




PheoPara Alliance
A great website full of resources on pheochromocytomas and paragangliomas for both patients and healthcare professionals. The PheoPara Alliance is an organization made up of physicians, patients, and support individuals, which provides current and easy to follow information.
Learn More >>




Pheo Para Troopers
This is a patient-run organization with an active role in the community and media. The website offers a list of resources, including patient stories, newsletters, and an event calendar. A great place for patients to connect with other patients affected with pheochromocytomas and/or paragangliomas.
Learn More >>

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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

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

Director, Public Affairs and Marketing
Renee Gaudette

Yale Cancer Center Genetic
Counseling Program

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.

©2011 Yale Cancer Center | 333 Cedar Street | New Haven | Connecticut 06520