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Gene Blues

Many women,
fearful of carrying a gene
for breast cancer,
are seeking
genetic testing.
But what should they do
with the results?

•

* 201 114 1,

LISA GAYLE

SPECIAL TO THE JEWISH NEWS

oday, June Farthing is healthy, hope-
ful and cancer-free. Two and a half
years ago, she underwent a success-
ful stem cell transplant to treat breast
\—, cancer that had spread to her bones. This
/— was followed by months of what she de-
scribes as "the most chemotherapy you can
get before it kills you."
With the clarity of those who have fought
hard for their lives, Ms. Farthing voices
questions that others timidly ask. And she
seems ready to do something about the an-
swers.
Ms. Farthing wants to know if a genet-
ic predisposition for breast cancer runs in
\__., her family. She was diagnosed at 38. Her
/— mother had a double mastectomy. Two of
her mother's first cousins and her mother's
aunt also had breast cancer.
In her desire for better information, she
wishes she could go back further than the
three generations. She also wants a glimpse
of the future. She's concerned for her sister,
her niece and nephew, and her 18-year-old
son.
Then she addresses what feels like an
epidemic among Ashkenazi Jewish women:
"Everybody knows somebody."
She pauses as she feels the weight of her
words. Then come her questions, asked ur-
gently, with perhaps a hint of anger. "Do
Ashkenazi Jewish women get more breast
cancer? Is it just in Michigan, in the Unit-
ed States, or all over the world? Is it genet-
ic or were we exposed to something? Where
did it start?"
For Ms. Farthing, like others affected by
\---
breast
cancer, genetic testing seems like a
/—/
way to get some answers.
Dr. David Nathanson is a breast cancer
specialist at Henry Ford Hospital, which
has recently made genetic testing available.
According to Dr. Nathanson, more and more
women are asking about testing, but only
a handful in the Detroit area have under-
gone the procedure.
Genetic counselors caution women to con-
sider all the ramifications of testing before
embarking down that path. They fear that
our ability to test has outpaced our ability
to make good use of the results.

LU

"Genetic testing does not tell you whether of 40 and who had strong family histories
or not you have breast cancer," says Kate of breast and ovarian cancers. This study
Sargent, genetic counselor at the Bar- suggested that if a woman has this mu-
bara Karmanos Cancer Institute. "It Karmanos' tation, she has an 85 percent risk of
might tell you whether you have a
Kate
developing breast cancer over her en-
higher risk of getting the disease but Sargent. tire lifetime. This mutation occurs in
we can't tell who will get it or who
1 percent, or one out of 100, Ashkenazi
won't."
Jews.
The complexity surrounding testing is
The 85 percent rate of risk represents a
partly a result of the genetics. Genetic ma- lifetime risk, not necessarily an indication
terial is a long string of coded information of what will happen in the next year, the
that tells the cell how to make protein.
next decade, or in the next quarter-centu-
Genes come in pairs, and at conception, we ry.
get half from each parent.
Furthermore, knowing risk does not
So far, two genes have been identified mean seeing the future. "Even if you have
- with the breast cancer process. If they are an 85 percent chance of developing breast
normal genes, they make a protein that sup-
cancer, there's a 15 percent chance that you
presses cancer development. If we inherit won't get breast cancer," Ms. Sargent says.
a mutation, or a deviation from the normal
This mutation accounts for a small pro-
gene, we have less ability to suppress tu- portion of breast cancer among Ashkenazi
mors.
Jews. Even among Jewish women under
Furthermore, all mutations are not alike. 40 who have been diagnosed with breast
There are at least 200 different mutations
cancer, this mutation appears in only one
for the two BRCA genes that confer differ- woman out of five. Four out of five incidences
ent risks of breast cancer, and some may of breast cancer in young Jewish women
confer no increased risk at all. Only the most have nothing to do with this gene.
common mutations have been studied and
So, test and you know? It's not so simple.
scientists are just beginning to flesh out
The same mutation seems to act differ-
what they mean.
ently in different people. In May, scientists
One of the few mutations that has been released the results of a study of over 5,000
studied occurs more frequently in Ashke- Ashkenazi Jewish volunteers in the Wash-
nazi Jews than in the white, non-Jewish ington, D.C., area, people without strong
population A study published last year was family histories of breast and ovarian can-
conducted with Jewish women who were
diagnosed with breast cancer before the age
GENE page 76

,

Sinai's Robin Gold.

"Genetic testing for breast cancer genes
is a simple blood test, but the information
and decisions arising from the results are
complex," says Robin Gold, a genetic coun-
selor at Sinai Hospital.
Genetic testing for breast cancer sus-
ceptibility genes is a new and uncharted
area of medicine. Blood tests for the gene
known as BRCA1 — Breast Cancer 1 —
have only been available for two years. For
BRCA2, blood tests have been available for
six months. Testing raises a host of issues,
including what it means if these genes show
up in your blood.
Genetic testing is not an early detection
system nor is it a substitute for self breast
examinations, mammograms or doctor vis-
its.

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