BRCA Genes:
To Test or
Not to Test?
By: RABBI JOSEF EKSTEIN
The bad news: Genetic science discovered some years ago
that women with mutations – abnormal changes – in two breast
cancer genes, labeled respectively BRCA1 and BRCA2, are
“significantly more likely” to develop breast and ovarian can-
cer.
As long as these genes are normal, they keep breast cells
growing normally and prevent cancer cell growth. When these
genes contain abnormalities – mutations – they create an
increased risk of breast cancer and may account for about 10%
of all breast cancers.1 This does not mean that these mutations
cause cancer, but that women who have these mutations are
more likely to develop cancer.
The good news: This year, researchers found that
Ashkenazi women with later-stage ovarian cancer who have
mutations in the BRCA1 and BRCA2 genes lived “significantly
longer” than Ashkenazi cancer patients without these muta-
tions. After 9 years of follow-up, the mutation carriers were
28% less likely to die from the disease.2
Genetic testing
It is true that genetic testing can identify these mutations.
Nevertheless, as in all testing, the patient must be aware of the
benefits and the drawbacks of the specific test. As the director
of NIH’s National Human Genome Research Institute, Francis
Collins, M.D., Ph.D. said of testing for the BRCA gene: “Once
you find out, then what?” Do positive results have the potential
of causing social and/or psychological harm? Is there preven-
tion for the diseases being tested? Cure? Do the benefits of
these outweigh the risks for physical, social or psychological
damage?3
What are the possible benefits of genetic identification of
BRCA mutations?
The benefits:
About 70% of all breast cancers are “sporadic,” which
means that there is no pattern of inheritance of breast cancer in
the patient’s family history. Another 20% or so of all breast can-
cers are “familial,” which means that the patient’s family has a
history of breast cancer, but there is no known hereditary pass-
ing of cancerous genes from one generation to the next.4
In plain English, 90% of breast cancers are not linked to the
BRCA genes.
As to the remaining 10% of breast cancers, abnormal
BRCA1 and BRCA2 genes account for many of them. But
many not-yet-discovered genes are probably also involved. (1)
In other words, genetic testing for these mutations will
identify only a minimal group as being at risk.
Then what?
Risk is all that genetic testing can determine. Risk does not
mean cancer; it only states a statistical possibility of developing
cancer.
These are the benefits of genetic testing for these two
genes.
The drawbacks
What are the drawbacks of the BRCA gene testing?
First let us review: A woman who tests positive for a mutant
BRCA gene has an increased risk of developing breast cancer
during her lifetime. A woman who does not have the known
genes has a slightly lower risk of developing breast cancer dur-
ing her lifetime.
The medical establishment and the cancer societies recom-
mend that under normal circumstances women above age 35
must have a mammogram at least once a year. More often as
she gets older. Once a woman is on this protocol, what will she
gain from BRCA testing other than anxiety and exposure to
another set of false positives with their attendant discomfort,
inconvenience, and expense?
Even if a woman were, chas vesholom, to undergo the phys-
ically and psychologically drastic recommendations made by
some oncologists to undergo “prophylactic” surgery – the risk
is not completely eliminated and will require a series of
chemotherapy and possibly radiation as well.5
Besides all the above considerations, women diagnosed as
BRCA carriers will have a host of further issues to deal with. A
young woman so diagnosed and her parents will have to worry
about possible shiduchim – to tell or not to tell, and whom to
tell. A married woman and her husband will have the same
concern multiplied by the number of their children and
grandchildren.
Considerations
The mere possibility of getting cancer u"j at some point in
a woman’s life does not justify ruining your and your family’s
life, burdening you and your family with unnecessary
knowledge cutfn ;hxuh ,gs ;hxuh . The drawbacks outweigh
the benefits. And the concerns and anxieties that will hamper
normal family life push the scales even further in favor of not
testing for BRCA genes.
Furthermore, American researchers, using data from studies
that included over 8,000 women who carried the BRCA gene,
concluded that annual mammograms in combination with other
testing did not sufficiently increased average life expectancy.
One result of the dual screening process – MRI plus mammo-
gram – is a high rate of “false positives,” a suspicion of cancer
when there is no cancer. Because of the high false positive rate,
one out of every three women in the American study had a
breast biopsy done only to discover that there was no cancer.
So these women underwent discomfort, inconvenience, and
expense plus considerable anxiety and fear until they got the
result saying “No cancer.” The lead author of this American
study, Dr. Janie M. Lee, stated, “Whether the trade-offs (her
term for the drawbacks) related to MRI screening are accept-
able to women at increased risk of developing breast cancer is
still being investigated.”
Conclusions
In light of present medical knowledge, for most women,
regardless of carrier status, the most sensible course of preven-
tive and protective action (without causing any damage)
includes:
• Practice monthly examination and an annual or
semi-annual mammogram (depending on your doctor’s recom-
mendation). An ultrasound examination is a wise additional
test.
• Maintain a healthy lifestyle. Never overeat. Keep to a
balanced diet that is nutritional, without junk food, that allows
you to maintain nutritional health and a healthy weight.
• Daven for your good health and for that of your
family and of Klal Yisroel.
I end with a tefilah for all who are healthy: ktrah rnua
o,uthrcc ushn,hu ukjh tka ktrah ,hrta runa/
For those who need a curec vnhka vtupr , I wish them
vkjn h,urhxvu ///o,u,hjan yknhu otprhu urcs jkah
lhcren/
______________
Rabbi Josef Ekstein is the Founder and Executive Director
of Dor Yeshorim, Inc.
___________________________________________________
1
Genetics and Breast Cancer Risk - "Abnormal BRCA1
and BRCA2 genes may account for up to 10% of all Breast
Cancers"
2
"Ashkenazi Ovarian Cancer Patients With BRCA
Mutations Live Longer Than Those With Normal Genes"
3
"Genetic testing can lead to fear of stigmatization"-
Closing the Gap - a newsletter of the office of Minority Health,
Clinical Trials December 1997 - January 1998.
4
Assessing Your Genetic Risk - "About 70% of all women
with breast cancer have a sporadic family pedigree"- "About
20% of all Women with breast cancer have a familial breast
cancer pedigree."
5
Seeking Your Genetic Information: Pros and Cons -
11/10/04
Disclaimer: The above suggestions are based upon the cur-
rent available medical data. Naturally, it is hoped that new
research will yield better practical benefits and ways of
resolving this dilemma.
Hamaspik Gazette | July '08 E3