In This Issue...
Hereditary Pancreatic Cancer
The lifetime risk of pancreatic cancer among men and women in the United States is ~1.4% and most cases of pancreatic cancers are sporadic. However, an estimated 10% of cases may be due to an underlying hereditary cause. Although our knowledge and the genetic testing options for hereditary pancreatic cancer have increased in recent years, the underlying genetic cause for clusters of pancreatic cancer in many families is still unclear.
Hereditary pancreatic cancer can be divided into several distinct categories: 1) known hereditary cancer syndromes mainly defined by risk for other cancers which include > risk of PC; 2) known hereditary disease which causes inflammation of the pancreas leading to > risk of PC; 3) familial pancreatic cancer (a clustering of pancreatic cancer in 2 or more first degree relatives) in which the underlying genetic cause is not yet known.
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Mammography Still Standard of Care
In June 2011, the U.S. Food and Drug Administration warned women not to substitute breast thermography for mammography to screen for breast cancer.
Thermography produces an infrared image that shows the patterns of heat and blood flow on or near the surface of the body. However, no valid scientific evidence has shown that thermography alone is an effective screening method for breast cancer. The FDA issued warnings to three providers to immediately stop making "false and misleading claims" about the device's effectiveness. They recommend that thermography not be used by itself to screen or diagnose breast cancer; it can however, be used as an additional tool for detecting breast cancer.
The FDA continues to advise patients to have regular mammograms according to screening guidelines or as recommended by their healthcare professional.
Improvements in Testing for Hereditary Colon Cancer (Lynch Syndrome/HNPCC)
In 2011, several of the major genetic testing laboratories updated their testing panels for hereditary colon cancer associated with Lynch Syndrome. Individuals who have Lynch syndrome are at risk for several types of cancer including colon, uterine, ovarian, and other GI cancers. Advances in this testing may help identify genetic mutations in individuals whose previous testing was uninformative (did not find a mutation) and will now allow us to offer more comprehensive testing to families at risk for Lynch Syndrome.
For individuals who previously tested negative for Lynch Syndrome/HNPCC mutations, these additional tests will require a new blood sample and will be associated with additional charges that may be covered by insurance. The identification of families with Lynch syndrome provides a unique opportunity to tailor medical management options through screening and prevention. Therefore, individuals with a significant personal and/or family history suggestive of hereditary colon cancer whose previous testing (performed prior to 2011) did not identify a mutation may wish to consider additional testing using these techniques.
- Full sequencing and large rearrangement analysis of the MLH1 and MSH2 genes
- Full sequencing of MSH6
Additions to testing as of 2011:
- Full sequencing and large rearrangements of PMS2. Studies suggest that as much as 15% of Lynch syndrome is attributable to mutations in the PMS2 gene.
- Large rearrangement analysis of MSH6 and EPCAM. The EPCAM gene is a recently discovered contributor to Lynch syndrome, accounting for an estimated 1-3% of all detectable Lynch syndrome mutations.
If you or your family members are interested in pursuing testing for Lynch syndrome, have previously tested negative and are interested in additional testing or have any questions about this testing, please contact our program at (203) 764-8400.
New Team Psychologist
We are pleased to welcome Terry Eicher, PhD as our new Team Psychologist. Dr. Eicher has a diversified background, earning a master's degree in divinity followed by a master's degree in public health from Yale University. He then went on to earn a PhD in Clinical Psychology from Yale University and has practiced as a psychologist in the New Haven area for many years. If you would like to make an appointment with Dr. Eicher, please contact him at (203) 772-4066.
Danielle Campfield Bonadies, MS, CGC has been promoted to Assistant Director of the Cancer Genetic Counseling Program. Ms. Bonadies interned in the program before graduate school and completed our summer fellowship during her training. She has been a genetic counselor with the program for seven years and will play a pivotal role in our expansion.
Wednesday, October 5, 2011
12:00 Noon - 2:00 P.M.
BJ's Wholesale Club
1046 North Colony Road
by September 28
Triple Negative Breast Cancer and BRCA1 and BRCA2 Mutations
J Med Genet 2011: 48:520-522.
When a breast tumor is removed it is sent to pathology for testing and classified as being positive or negative for estrogen, progesterone, and HER2 receptors. Approximately 15% of all breast cancers are negative for all three, and are therefore called triple negative breast cancers (TNBC). We've long suspected that TNBC are overrepresented in BRCA1 mutation carriers and this study confirmed that hypothesis. Between 11.3-12.7% of women diagnosed with TNBC <41 years were found to carry a BRCA1 mutation. The percentage of both BRCA1 and BRCA2 mutations increased with positive family history of breast and/or ovarian cancer, earlier age of onset, and Jewish ancestry. The majority of TNBC cases are not due to an underlying BRCA mutation. However, genetic testing guidelines now include all women diagnosed with TNBC before the age of 60. Insurance coverage will begin reflecting these changes in the near future.
Differences in Cancer Risks Associated With Mutations in the Lynch Syndrome Genes MLH1, MSH2 and MSH6
JAMA 2011: 305(22):2304-2310.
This French study of 537 Lynch syndrome families analyzed cancer prevalence and age of diagnoses in known mutation carriers of the genes MLH1 (248), MSH2 (256), and MSH6 (33). They found that colorectal cancer risk by age 70 was highest in MSH2 and MLH1 carriers, and lower in MSH6 carriers. Endometrial cancer risks by age 70 were highest in MLH1 carriers, and lower for MSH2 and MSH6 carriers. The risk of ovarian cancer by age 70 was highest for MSH2 and MLH1 carriers, and lower for MSH6 carriers. Although these data are interesting in pointing out correlations in Lynch syndrome, they are not conclusive and should not change screening and risk reduction recommendations for Lynch syndrome at this time; particularly because early stage ovarian cancer is so difficult to detect with surveillance.
Breast Surveillance With and Without MRI Imaging in BRCA Carriers
J Clin Oncol 2011: 29:1664-1669.
Canadian researchers followed 1275 female BRCA1 and BRCA2 carriers for a mean of 3.2 years in this surveillance study. A total of 445 BRCA carriers were enrolled in the MRI screening trial and 830 were in the comparison group and instructed to receive annual clinical breast examination and mammography (although their compliance was not controlled or monitored). Of note, breast ultrasound was discontinued in 2005 because it was not found effective in surveillance. Within the follow-up time, there were 41/445 (9.2%) cases of breast cancer in the MRI group and 76/830 (9.2%) in the comparison group. The percentages of DCIS or stage I breast cancer at 6 years was 13.8% in the MRI group vs. 7.2% in the comparison group. The incidence of stages II to IV breast cancer was 1.9% in the MRI group vs. 6.6% in the comparison group. These data support the hypothesis that annual surveillance with MRI is associated with a significant reduction in advanced-stage breast cancer in BRCA1 and BRCA2 carriers.
By the time you read this welcome letter, the scorching temperatures of summer will be behind us, the leaves will be changing, and a new school year will be underway. As you will read in this edition of Generations, the fall season will also bring many changes and improvements to our Program. We now have an Assistant Director, are expanding our space, will be adding a new genetic counselor to our team, and have added an outreach clinic at the Center for Cancer Care at Griffin Hospital in Derby, CT. We are confident that our growth will allow us to reach more people and to better serve you - which, of course, is our number one goal. Best wishes to you and your family.
Karina L. Brierley, MS
Rachel E. Barnett, MS
Danielle C. Bonadies, MS
Ellen T. Matloff, MS
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Stories of Survivorship from Yale Cancer Center
Margaret: Genetic Testing >>
David: Genetic Testing >>
Sheila: Genetic Testing >>
American Psychosocial Oncology Society Helpline
This free 24-hour helpline provides referrals for local counseling services throughout the United States. This referral program aims to connect cancer patients and their caregivers to psychiatrists, psychologists, nurses, social workers and counselors skilled in the management of cancer-related distress. To request a confidential referral, please call: 1-866-276-7443 or you may send an e-mail.
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An online resource for adult cancer patients and the parents of children with cancer who want to learn more about preserving fertility before and during cancer treatment, and protecting hormonal health after treatment. This website also provides information and guidance to oncologists, endocrinologists, and other healthcare providers concerned with the reproductive health of cancer patients and survivors. With easy to use checklists and flow charts, savemyfertility.org is an excellent resource for both patients and providers.
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Couples Confronting Cancer: Keeping Your Relationship Strong
By Joy Fincannon &
A cancer diagnosis can be a disruptive and stressful element in a relationship, and this book provides information about the illness, suggesting ways to work through conflict to create intimacy and to deal with it more successfully. It shows couples how to solve or avert problems, allowing partners to become closer and communicate more easily and truthfully with one another both during and beyond the cancer experience.
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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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Ellen Matloff, MS
Danielle C. Bonadies, MS
Allen Bale, MD
Erin Hofstatter, MD
Counselors & Contributing
Rachel Barnett, MS
Karina Brierley, MS
Director, Public Affairs and Marketing
Yale Cancer Center Genetic
55 Church Street, Suite 402
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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.