Fall 2012

In This Issue...

Entering the Next Era of Genetic Testing 


For many, genetic testing appears to be a simple, straightforward process. However, the reality of genetic testing is that it is enormously complex. With the availability of advanced laboratory techniques the complexity of genetic testing has increased exponentially. While these technologies have great potential, their clinical utility is still being explored.


Recently, several genetic laboratories have started to offer testing for panels of genes related to hereditary cancer predispositions. These panels simultaneously analyze groups of genes that contribute to increased risk for breast, colon, ovarian, uterine, and other cancers. Some of the genes included are well-known and well-described. This makes testing for multiple genes more efficient and cost effective. For some families, panel testing may reveal a well-classified mutation, provide an explanation for their personal and/or family history of cancer, and enable pre-symptomatic genetic counseling and testing for other family members.



Update: BART Testing for BRCA1
and BRCA2


We have known for many years that Myriad Genetic's Comprehensive BRACAnalysis does not pick up all detectable mutations within BRCA1 and BRCA2. On July 31, 2006 Myriad began offering a separate test called the BRACAnalysis Large Rearrangement Test (BART) to pick up some of the mutations within BRCA1 and BRCA2 that are missed by BRACAnalysis. This test, unfortunately, was offered as a separate test and cost $650, and later $700, per sample. Most insurance companies would not cover the cost of this testing, and most patients who had BRACAnalysis never had BART testing.  


Myriad released data in the summer of 2011 showing that of all patients with detectable BRCA1 or BRCA2 mutations, about 10% had mutations that would only be detected by BART analysis. A higher prevalence of these BART mutations were found in people of Latin American/Caribbean and Near/Middle Eastern ancestry.  


On May 2, 2012 the National Comprehensive Cancer Network (NCCN) released guidelines recommending that all patients who meet criteria for standard BRCA1 and BRCA2 testing should also have BART analysis. Based on this information, we believe that more insurance companies will now cover the cost of BART analysis.  



Chemoprevention and Targeted Therapy for BRCA Carriers Discussion Group


Last spring, the Yale Cancer Genetic Counseling Program held a discussion group with special guest Erin Hofstatter, MD, team oncologist. Dr. Hofstatter's discussion focused on Chemoprevention and Targeted Therapy for BRCA carriers.  



"Once a woman has been found to carry a BRCA 1 or 2 mutation, there are several options to reduce her risk of breast cancer. Some women choose to pursue prophylactic mastectomies (surgical removal of the breasts) as the most effective way to prevent breast cancer, reducing the risk by >90%. However, for those women who opt not to undergo surgery, chemoprevention (taking a medicine to prevent breast cancer) can be considered. There are three medications currently available for breast cancer prevention, namely Tamoxifen, Evista (raloxifene), and Aromasin (exemestane). However, Tamoxifen is the only medicine appropriate for premenopausal women, and is usually reserved for women over 35. Studies suggest that these medications, when taken by women at increased risk of breast cancer, reduce the risk of developing breast cancer by approximately 50%, if taken for 5 years. However, it is important to note that these studies included only small numbers of women specifically known to carry a BRCA mutation, so the true effect of these medications in BRCA carriers remains unclear. Side effects are generally well-tolerated, but can include hot flashes, night sweats and achiness.  Rare but serious side effects can include blood clots (Tamoxifen and Evista), uterine cancer (Tamoxifen) or thinning of the bones (Aromasin). If you are a woman who carries a BRCA1 or 2 mutation and have opted not to pursue prophylactic breast surgery, you may be a candidate for breast chemoprevention. Talk to your doctor about whether breast cancer chemoprevention might be right for you. The counselors at Yale Cancer Genetic Counseling would also be happy to give you a referral to speak with a breast specialist to discuss your options."  


Journal Clips


Oophorectomy after Menopause and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

Cancer Epidemiol Biomarkers Prev. 2012 May 21.

It is known that prophylactic oophorectomy (removal of ovaries and fallopian tubes) in a pre-menopausal BRCA mutation carrier reduces her lifetime risk to develop breast cancer, likely as a result of decreased levels of estrogen and progesterone in the body. This study demonstrated that prophylactic oophorectomy in a post-menopausal BRCA mutation carrier can also reduce lifetime breast cancer risk; however, the number of post-menopausal women in this study was small and the confidence limits were wide. The reduction in risk was stronger in women who had undergone surgical vs. natural menopause. Also, later age at onset of menstruation and breastfeeding for more than 1 year were both shown to decrease breast cancer risk in BRCA1, not BRCA2, mutation carriers.  



Detection of Breast Cancer with Addition of Annual Screening Ultrasound or a Single Screening MRI to Mammography in Women with Elevated Breast Cancer Risk

JAMA. 2012;307:1394-1404.

Women included in this study were asymptomatic, had dense breast tissue, and were at increased risk for breast cancer. Not all participants were BRCA mutation carriers. Participants were followed with mammogram and ultrasound at the time of study enrollment, then at 12 months and 24 months after enrollment. A subset of women had a breast MRI following their 24 month screening mammogram. Annual supplemental ultrasound and breast MRI detected additional cancers, including an additional 5.3 per 1000 cancers in the first year of supplemental ultrasound and an additional 14.7 per 1000 cancers with MRI. However, the rate of false-positives also increased in women without a history of a prior breast cancer. Such false-positives often result in unnecessary biopsies and this must be considered when additional surveillance is considered.  



Pathology of Breast and Ovarian Cancers Among BRCA1 and BRCA2 Mutation Carriers:  Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Cancer Epidemiol Biomarkers Prev. 2012;21(1):134-47.


BRCA2 Mutations and Triple-Negative Breast Cancer

PLoS One. 2012;7(5):e38361. Epub 2012 May 30.


Prevalence of BRCA Mutations in an Unselected Population
of Triple-Negative Breast Cancer

Cancer. 2012;118(11):2787-95.

Data continue to grow about the types of BRCA1 and BRCA2 associated breast and ovarian cancers and this information is becoming increasingly important in genetic risk assessment. These recent publications confirm that:

  • Triple negative breast cancers (estrogen receptor negative, progesterone receptor negative, HER2-) are more common among BRCA1 associated breast cancers (69%) compared with BRCA2 associated breast cancers. However, in two of these studies, approximately 16% of BRCA2 associated breast cancers were triple negative, which is higher than most studies published to date.   
  • Triple negative breast cancer increased the likelihood of a woman carrying a mutation irrespective of family history in women diagnosed <50 and in women diagnosed >50 with a family history.   
  • The frequency of ER negative tumors decreased with age at breast cancer diagnosis in BRCA1 mutation carriers. The opposite was true for BRCA2 mutation carriers.  
  • There was no significant association between HER2 status and BRCA carrier status; however, the numbers may still be too small to assess.  

Tricare Update


Important Update for Patients with TRICARE


On August 6, 2012, TRICARE announced that they will be instituting a program that will reinstate coverage for BRCA1 and BRCA2 testing for eligible patients as of September 30, 2012 and will be retroactive to May 22, 2012. In the past, TRICARE provided coverage for BRCA testing but since January 2012 they stopped providing this coverage. If you have TRICARE and were denied coverage for BRCA testing and would like to determine your current coverage eligibility, please contact our office.



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Editor's Letter 

By the time this newsletter reaches you I expect that the leaves will be changing, cool temperatures will have arrived, and everyone will be back in school for the new academic year. As you will read in this edition of Generations, we have exciting new genetic testing options to discuss with you and are hopeful that more health insurance companies will cover this testing by December 2012. Research in this area continues to grow in leaps and bounds and we are working actively to bring this information to you and your families.


We hope this new season finds you and your families healthy and well, and that you'll enjoy reading about the many new and exciting genetic testing options available to you.



Ellen T. Matloff, MS, CGC



Email us your suggestions >>  


Stories of Survivorship from Yale Cancer Center

Marjorie: Breast and Cervical Cancer Survivor  >>



 Raffaella: Breast Cancer Survivor  >>  



Audra: Breast Cancer Survivor



Specs For Little Heroes


Specs for Little Heroes is an organization started by a local family whose 4-year-old son lost his eye to retinoblastoma, a rare childhood eye cancer that affects hundreds of American children every year. Children with retinoblastoma often receive chemotherapy, surgery to remove their affected eye, and/or other treatments. These children and their families face many physical, emotional, and financial challenges. These children need to take lifelong precautions including wearing expensive protective glasses to prevent further eye injuries and blindness. This organization raises money to provide free protective eyewear to children with retinoblastoma.

Learn More >>




GEMSS for Schools


GEMSS (Genetics Education Materials for School Success) is a website that was developed by the New England Genetics Collaborative (NEGC) to provide information and materials to help teachers and parents better understand and address the needs of children with genetic conditions and help them succeed in the classroom. They currently provide information on various areas that may affect school life (e.g. medical/dietary needs, educational supports, school absences and fatigue, etc.) for 10 genetic conditions (including Down syndrome, Neurofibromatosis Type 1, Fragile X) with plans to add information about more conditions in the future.

Learn More >>






This website for the National Coalition for Health Professional Education in Genetics provides useful tools and information about genetics for healthcare providers. However, some of the information and tools provided are also patient-friendly including a free form and information for collecting family history as well as information about the Genetic Information Non-discrimination Act (GINA).


Upcoming Events

ArtBra New Haven Auction


ArtBra New Haven will host its annual auction of art bras on Sunday, October 14, 2012 at the Omni Hotel in New Haven, CT. All proceeds will benefit under- and uninsured patients of the Breast Center at Smilow Cancer Hospital at Yale-New Haven. A selection of the wearable art will be auctioned in a live runway show and the remaining wearable and non-wearable art will be sold in a silent auction.

Sister's Journey Pink Tea


Sister's Journey, a non-profit organization supporting breast cancer survivors, will celebrate breast cancer survivorship with their annual Pink Tea. The 12 breast cancer survivors featured in their 2013 "Stories of Hope" calendar will be introduced at the event. Join them on Saturday October 27, 2012 from 1-5pm at the Omni Hotel in New Haven, CT.


Please Make a Donation

to Help Support

Hope Chest

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.

Learn More >> 




Ellen Matloff, MS, CGC



Danielle C. Bonadies, MS, CGC 

Assistant Director  


Rachel Barnett, MS, CGC

Senior Genetic Counselor


Karina Brierley, MS, CGC

Senior Genetic Counselor


Allen Bale, MD 

Team Geneticist   


Erin Hofstatter, MD  

Team Oncologist   



Renee Gaudette 

Director, Public Affairs and Marketing



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,

100 Church Street South, Suite 160, New Haven Connecticut 06510.