F:ALTH

Jewish

Genetics

Ashkenazi Jews should be
aware of BRCA gene mutation.

Dr. Bernard Lublin
Special to the Jewish News

he telephone call. Breast can-
cer. My 33-year-old niece,
Karen, who has three young
daughters and no family history of
breast cancer.
Thirty-five years earlier, I had
diagnosed her grandmother with
ovarian cancer. Her own internist
had not even considered this diag-
nosis. His advice for treatment of
her symptoms of abdominal bloat-
ing: "Stop eating gassy foods:'
We didn't know then that the
grandmother's ovarian cancer was
due to an inherited "BRCA' (short
for breast cancer) mutation. We
didn't know that the grandmother
had silently passed this mutation to
her son, that her son had then
silently passed the inherited muta-
tion to his daughter and that any
BRCA mutation can cause both
breast cancer and ovarian cancer.
At one time, as part of a "com-
plete" medical exam, Karen had
told her physician of her grand-
mother's ovarian cancer. The physi-
cian erroneously advised that she
need not worry "since this was on
the paternal side of her family" In
fact, BRCA mutations can be inher-
ited from either the mother or the
father with equal frequency and
can be passed on to both a daugh-
ter and a son.
After the lump (found by self-
exam), the worrisome mammo-
gram and the diagnosis by needle
biopsy, Karen consulted a surgeon.
He erroneously told her that the
appropriate surgery would be a
lumpectomy, followed by radiation
and chemotherapy.
Fortunately, she consulted a sec-
ond surgeon. His assessment: an
Ashkenazi Jew, age 33, with a
grandmother who died of ovarian
cancer — a genetic test was need-
ed to determine the appropriate
surgery.

T

N

October 27.2005

Testing's Value

The resulting report, positive
for a BRCA genetic mutation,
led to a full understanding of
Karen's disease. Presence of a BRCA
mutation in Ashkenazi Jewish
women confers a 60-87 percent
lifetime risk of breast cancer versus
the risk for the female population
at large of 10-12 percent.
After a thorough discussion of
the cancer risks and risk reduction
options, patient and surgeon decid-
ed jointly for complete and bilateral
mastectomy. The reasons: All breast
tissue in a woman with an inherit-
ed BRCA mutation has a propensi-
ty to become cancerous. There is a
significant incidence of a later sec-
ond malignancy in the same breast
when treated by lumpectomy or by
simple mastectomy. And there is a
significant risk of a later breast
cancer in the opposite breast: 15
percent within five years, 27-42
percent within 10 years. This sec-
ond malignancy is not a result of
residual cells from the earlier can-
cer; it is a new malignancy devel-
oping in genetically compromised
breast tissue.
Karen would also have
chemotherapy and a prophylactic
oophorectomy (removal of
ovaries). The same gene mutations
that cause breast cancer also cause
ovarian cancer. In fact, it was the
same mutation that caused her
grandmother's ovarian cancer. The
lifetime risk of ovarian cancer in a
woman with a BRCA mutation is
27-44 percent. Therefore, a woman
with a BRCA mutation who has
completed childbearing has good
reason to consider prophylactic
oophorectomy, which not only will
reduce the risk of ovarian cancer
by 96 percent, but also will reduce
the risk of breast cancer by 50 per-
cent. And now this surgery can be
done on an outpatient basis by
laparoscopy.
The normal healthy BRCA genes

Happy and healthy are Keith and Betsy Lublin of West Bloomfield; Karen and Jon Morton of Miami,

with their daughters Eliza and Stephanie, 5, and Rachel, 9; Kathi Paul of Atlanta and father, Bernard

Lublin of Richmond, Va.

are considered tumor-suppressant
genes. Every person has a pair of
these genes — one set inherited
from each parent. In most individ-
uals, both sets are normal.
However, an individual might
inherit one with a mutation that
causes it to not work properly. This
is comparable to having a bicycle
with two hand brakes — one of
which does not work. If the indi-
vidual then loses function of the
other normal gene (through dam-
age from pesticides, industrial
chemicals, etc.) then all "braking"
control of cell reproduction has
been lost and cancerous cell repro-
duction proceeds.
Karen was diagnosed in 2001.
She now lives cancer-free in Miami
with her husband, Jon, and daugh-
ters, Rachel, 9, and twins Eliza and
Stephanie, 5. ❑

Dr. Bernard Lublin is a retired physi-
cian. When his niece Karen devel-
oped breast cancer, he became
aware of the lack of knowledge of the
BRCA gene mutation. He began work-
ing to raise that awareness among
the general and Jewish communities
and to advocate for insurance cover-
age for testing, reductions in the cost
of testing and for changes in stan-
dard protocols in working with
Ashkenazi cancer patients. He wrote
this story to spread the word, espe-
cially during October, which is Breast
Cancer Awareness Month. He lives in
Richmond, Va., and Naples, Fla. His
son Keith and daughter-in-law Betsy
live in West Bloomfield and had their
first child this week.

Genetic Testing?

•Ashkenazi Jews who have had breast cancer before the
age of 50 or who have had ovarian cancer at any age. This
serves to find out whether additional treatment is recom-
mended, such as oophorectomy or mastectomy of the
opposite breast. Testing also benefits offspring, sisters and
brothers by informing them that each has a 50 percent
chance of the same mutation and that they also should
seriously consider testing and preventive measures. This
applies to all now living after a diagnosis of breast or
ovarian cancer.
•Ashkenazi Jews with a family history of breast cancer
below age 50 or ovarian cancer at any age. Studies have
shown that the risk of breast or ovarian cancer is not
related to the number of family members with these can-
cers.
•Also, women with a BRCA mutation should consider
mammography beginning at age 25.

Health Insurance
Women may fear that testing positive (or even undergoing
genetic testing) will lead to discrimination by health
insurance carriers. Yet Michigan and most other states
already have legislation forbidding discrimination by
health insurance carriers based upon genetic information.
This protection is reinforced by federal legislation known
as HIPAA that was passed in 1996.
In large measure, the desire for national anti-discrimi-
nation legislation is symbolic rather than substantive.
While this has become a rallying point for multiple con-
stituencies, most states already have taken care of this
issue. It is understood that carriers of life insurance and
disability insurance may still discriminate. This results
from legitimate actuarial concerns of "adverse selection."

How to Proceed
Genetic testing for Ashkenazi BRCA mutations is available
at a cost of $415, though this is normally covered by
health insurance. The test, a simple blood test, is available
after a short session with a genetic counselor. Testing is
available through the University of Michigan in Ann Arbor
at (734) 764-0107 and through the Detroit-based
Karmanos Cancer Institute at (313) 576-8748. Results are
available within four weeks (although an expedited
answer is available for an additional cost).

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