For individuals and families with a history of cancer Fall 2008
NEWSLETTER OF THE CANCER GENETIC COUNSELING SERVICE
Fall 2008 Our Family Tree has Grown!
Welcome to the Fall edition of Pass It On. We have
W e are excited to announce two new members of
the Cancer Genetic Counseling Team!
some exciting changes in our program to share with
you! Also, we are going GREEN! While our Jennifer Barrick, MS joined our team in May as a
newsletter will remain available on our website, we genetic counselor. Jennifer did her undergraduate work at
Michigan State University where she earned her Bachelor of
would like to move towards an electronic mailing for Science degree in Microbiology with a concentration in
those of you who have an email account. We will be Molecular Genetics in 2006. During her time at MSU, she
making this transition over the next year and may be worked in an immunology and genetics research laboratory.
contacting you to make sure that you would like to Although she enjoyed genetics research, she wanted to help
remain on our mailing list. Wishing you and your educate and serve as an advocate for patients and the
families a happy holiday season! community. Genetic counseling was the perfect fit. She went
on to graduate school at Wayne State University where she
received her Master of Science degree in Genetic Counseling in
Sincerely, 2008. During her graduate studies, she became passionate
Nancie Petrucelli, MS about counseling patients in the cancer setting because unlike
other genetic specialties she feels that she can provide
Jennifer Barrick, MS important information and medical management options to aid
in the early detection and prevention of hereditary cancers.
Michael Simon, MD, MPH Jennifer has lived in Michigan for over 17 years, and currently
Nazik Hammad, MD, MS resides in Wixom. She enjoys reading, golfing, traveling and
spending time with friends and family in her spare time.
Gerald Feldman, MD, PhD, FACMG
Nazik Hammad, MD, MS joined our team in
October as a GI Oncologist with an interest in cancer
genetics. Dr. Hammad obtained her medical degree from the
University of Khartoum in Sudan. She has a Masters degree in
immunology from the University of Toronto. She has done
her residency in internal medicine at Wayne State University.
She practiced as an internist at the Marshfield Clinic in
INSIDE… Wisconsin prior to joining the hematology/oncology
fellowship program at Wayne State University School of
1 What’s New at the Cancer Genetic Counseling Service Medicine/Karmanos Cancer Center. She finished her
fellowship in August of this year. She spent her last year of
2 Direct-to-Consumer Genetic Testing/Ovarian Cancer
fellowship rotating in GI oncology and in clinical cancer
genetics. When asked about how her interest in genetics
Screening/Modifiers of Cancer Risk began, Dr. Hammad says, “I became interested in hereditary
cancer genetics because of my interest in GI cancers and also
3 Resources/Should Children be Tested
in breast cancer where the management of high risk families
has become an integral part of the management of these
cancers. Moreover, the biology of hereditary cancer syndromes
4 CGCS Clinics/Contacting Us
has taught us and continues to teach as about cancer biology in
general, not only in terms of etiology and prevention but also
in terms of response to chemotherapy and other treatment
modalities as well."
We are very pleased to have Jennifer and Dr.
Hammad join us and know that they will be an asset to our
Pass It On… 1
Direct-to-Consumer Marketing Genetic Factors That Can Modify BRCA Mutation
of Genetic Tests Carriers’ Risk of Developing Breast Cancer
Traditionally, genetic tests have been available only
Jennifer Barrick, MS
through qualified healthcare providers such as physicians,
As you all may know, the BRCA1 and BRCA2 genes were discovered
nurse practitioners, and genetic counselors. Healthcare
in 1994 and 1995 respectively. Also, we know that mutations or
providers determine the appropriate test, facilitate the
changes in these two genes can significantly increase a woman’s risk
collection of samples to be sent to the laboratory, and
of developing breast cancer along with a few other cancers. However,
interpret the test results. Direct-to-Consumer (DTC) the risk for developing breast cancer is not 100 percent. For those
genetic testing refers to genetic tests that are marketed who carry a BRCA mutation, these risks vary from study to study,
directly to consumers via television, print advertisements, ranging anywhere from 40-87 percent. So many are asking, why such
or the Internet. a large discrepancy in risk?
The growing market for DTC genetic testing may promote There are several environmental factors that we know can increase
awareness of genetic diseases, increase access to genetic one’s risk of developing breast cancer such as diet, weight, exercise,
testing, allow consumers to be more proactive in their age at the time of first birth, age of onset of menarche (period) and
health care, and offer convenience. However, these at- onset of menopause, as well as longer periods of estrogen
home genetic tests have significant risks and limitations. replacement therapy use. In addition to environmental factors, current
The Food and Drug Administration’s (FDA) data review of literature is pointing towards certain genetic factors that can increase
one’s risk of developing breast cancer.
the impact of DTC marketing has shown that while such
advertisements increase consumers’ awareness about Genetics Review and Polymorphisms
various diseases, they fail to accurately convey risk As you may remember, our cells contain all of our genetic information,
information and furthermore, can mislead the consumer which is packaged into structures called chromosomes. These
and cause unnecessary anxiety. Without guidance from a chromosomes contain all of our genes. Genes are made up of DNA,
which is the alphabet that encodes important building blocks that
healthcare provider, consumers may make important
enable our body to function properly. Polymorphisms are small
management decisions based on inaccurate, incomplete, or
changes in the spelling of our DNA. Most polymorphisms are
misunderstood information about their health.
harmless; we all have them, which make us unique from one another.
Genetic test results not only apply to the individual, but “Single Nucleotide Polymorphisms” (SNPs) are single letter
have implications for other family members as well. polymorphisms. However, some SNPs have been implicated as
Furthermore, other factors such as lifestyle choices and increasing one’s risk of developing breast cancer.
family history can also affect a person’s risk of Current Research
developing many disorders. Therefore, the standard The Consortium of Investigators of Modifiers of BRCA1 and BRCA2
recommendation of many professional organizations (CIMBA) was established in 2005. Currently, there are 30 groups
including the American College of Medical Genetics from North America, Europe, Australia, and Israel who are contributing
remains that, pretest and posttest counseling of to CIMBA projects. Two studies under CIMBA have implicated SNPs
individuals and families regarding the medical significance in four genes that can potentially increase a BRCA mutation carrier’s
of test results and the need, if any, for follow-up is the risk of developing breast cancer. SNPs in FGFR2, MAP3K1, and
RAD51 have been associated with an increased risk for breast cancer
responsibility of the healthcare provider and is critical in
in BRCA2 carriers, but not in BRCA1 carriers. A SNP in the gene
the genetic testing process.
TNRC9 has been associated with an increased risk for breast cancer
in both BRCA1 and BRCA2 carriers]. If a woman has a normal copy
of both genes (FGFR2, MAP3K1, TNRC9, or RAD51), she is thought
to be at the lower end of the risk range. If a woman has two copies of
OvaSure – Ovarian Cancer Screening Test abnormal SNPs in either of these genes, then she is thought to be at
the higher end of the risk range. The exact risk that these SNPs pose
LabCorp, a commercial laboratory recently announced that it
to women who carry BRCA1 or BRCA2 mutations has yet to be
will make OvaSure - a blood test analyzing specific biomarkers determined.
licensed from Yale University that may discriminate between women
who have ovarian cancer and those who do not - available as a At a local level, the Genetics Registry at Wayne State University was
screening test to women at high risk of ovarian cancer. However, established in 1999 through the Cancer Genetics Research Program.
gynecology and cancer experts have raised serious concerns about the Dr. Michael A. Tainsky and the Karmanos Cancer Institute are
test. Websites Offering Resources and Support
Based on data, it appears as though only a small number of
recruiting study participants through the Cancer Genetic Counseling
Service, in part to learn more about modifiers of BRCA1 and BRCA2
women with an abnormal test result will actually have ovarian cancer.
In other words, there will be many false positive results. mutations. Dr. Tainsky’s group is looking at SNPs in genes, as well as
Given these concerns, the Society www.bebrightpink.org
of Gynecologic Oncologists, issued at modifiers of gene expression called “methylation” that could turn off
the following statement: “After reviewing the OvaSure’s materials, it a tumor suppressor-type gene (like BRCA1). They are attempting to
is our opinion that additional research is Brilliant. Betest’s
Be needed to validate the Bold. Be Bright Pink. Bright Pink is a uniqueother genes
determine if methylation of certain regions of BRCA1 and nonprofit
organization that providesincrease a BRCA1 support, and a sense of developing
effectiveness before offering it to women outside of the context of a
can education, or BRCA2 mutation carrier’s risk of community
certain types of cancer.
In the meantime, women who areyoung women who are at high risk for breast and ovarian cancer.
to at an increased risk of ovarian
cancer including those who have BRCA mutations and those with It is important to note that research is still ongoing and that genetic
Lynch syndrome (hereditary nonpolyposis colorectal cancer testing for these modifiers is not yet indicated in BRCA1 or BRCA2
https://familyhistory.hhs.gov/ mutation carriers. However, it is promising that future testing of these
syndrome) are encouraged to participate in clinical trials
(http://www.cancertrialshelp.org/) of new ovarian cancer screening
Thanksgiving will be the fifth more personalized informationbe identified could or BRCA2
strategies and should discuss this with a genetics professional.
modifiers and others that have yet to
annual National Family History Day. This
about a BRCA1
web-based tool helps users organizeto develop history information for
mutation carrier’s risk family breast cancer.
presentation to their health care provider. Learning about your family’s
health history may help ensure a longer, healthier future together.
Pass It On… 2
Vital Options was the first psychosocial and advocacy organization for
In the Spring edition of Pass It On, we discussed disclosing positive test results to children. To continue this theme of
genetic testing and children, this article addresses the question of whether kids should be tested for adult onset inherited
cancer syndromes such as hereditary breast and ovarian cancer (HBOC). HBOC is due to mutations in the BRCA1 and
BRCA2 genes and increases the lifetime risk of breast and ovarian cancer as well as other cancers including prostate
cancer, male breast cancer, pancreatic cancer, and melanoma.
As more and more women with breast cancer are undergoing genetic testing, more parents are faced with a tough decision:
Should their children be tested? Recent studies and interviews by the Associated Press show that many people who have
BRCA mutations, and even more of their children say, yes. Research has shown that there are benefits to at least talking
about genetic testing and inherited cancer risks with teens. It led some to quit smoking, one study found. However,
researchers are still grappling with whether it is ethical or good to test minors.
To lower cancer risk in female BRCA carriers, women can consider taking anti-estrogen drugs or having their breasts or
ovaries removed. But these measures are not recommended for very young women. Even mammograms and breast MRI
are not typically advised until age 25 in carriers, because cancer is rare before then.
The American Society of Clinical Oncology (ASCO) recommends that “the decision to offer testing to potentially affected
children should take into account the availability of evidence-based risk reduction strategies and the probability of
developing a malignancy during childhood.” In other words, when the risk of childhood cancer is low and nothing can
effectively be done in childhood to reduce it, testing should be delayed until the individual is of sufficient age to make an
informed decision regarding such tests and when something can be offered that will help.
As Dr. Mary-Claire King, the University of Washington scientist who in 1990 discovered BRCA1, says, “The rule is, do no
harm-test only if you can offer something that will help”. She goes on to say, “The life of a young girl is complicated
enough already. There is nothing about it that needs to change” if she carries one of these gene mutations.
Parents are encouraged to discuss these issues in detail with a genetics professional to help them consider all aspects of
testing a minor and ensure that they are not unintentionally doing harm to their child.
Pass It On… 3
Cancer Genetic Counseling Service Clinics
Walt Breast Center and Wertz Clinical Cancer Center
Weisberg Cancer Treatment Center
MidMichigan Medical Center – Midland
Crittenton Hospital Medical Center
1-800 KARMANOS www.karmanos.org
If you would like your name This newsletter is produced by the:
removed from the ‘Pass It On’ Cancer Genetic Counseling Service
mailing list or know someone who Barbara Ann Karmanos Cancer Institute
would like to be added, please Wayne State University
contact us at: 4100 John R, 4HWCRC
Detroit, MI 48201
Pass It On… 4