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Between 5 -10 percent of women newly diagnosed with breast
cancer have a heritable form of the disease. Geneticists
have identified mutations on the BRCA1 and BRCA2 genes
that predispose a person to develop breast cancer. Women
with alterations on these genes have up to an 85% greater
lifetime chance of developing breast cancer than women
with unaffected genes. The mutations are also associated
with an increased risk of ovarian cancer. People of Ashkenazi
Jewish descent have a higher incidence of inheriting these
mutations than those in other ethnic groups. Although
breast cancer in men is far less common, a mutated BRCA2
gene, in particular, increases their possibility of having
the disease. Furthermore, people with altered BRCA1 and
BRCA2 genes have a slightly greater risk to develop cancer
of the pancreas, stomach, or prostate than people without
the mutations.
Genetic testing for the mutated BRCA1 or BRCA2 genes
should be considered by those who have had ovarian cancer
at any age or breast cancer before they were 50 or have
relatives meeting the same parameters; people with family
histories of two or more cases of breast and/or ovarian
cancer; and males with breast cancer. The preferred
procedure is to first test a family member who has had
breast or ovarian cancer. If this is not possible, then
an at-risk family member can be tested directly.
A positive result indicates that the patient is at
higher risk for cancer. However, it cannot tell whether
cancer will actually occur, or when, or how aggressively.
That is why it is important to review test results with
an experienced genetic counselor. University Hospital’s
Adult Onset Genetic Disease program provides patients
with a thorough, objective and practical examination
of their individualized risk factors for breast cancer.
Appropriate followup can be arranged with University
Hospital/New Jersey Medical School faculty or the patient
may return to her own local physicians. Some of the
followup options that can be considered in discussion
with a genetic counselor include:
Careful monitoring:
Increased frequency of mammograms and clinical breast
exams can help catch breast cancer at an earlier and
more treatable stage. Most importantly, is to begin
screening at-risk persons at an earlier age than is
recommended for the population at large.
Prophyltactic Surgery:
Removal of the breasts (mastectomy) can reduce (but
not eliminate) the risks of developing breast cancer.
The younger the patient with altered genes is when she
has a preventive mastectomy, the greater the potential
benefit. Surgery is a particularly complex and highly
personal option to consider and is best made by the
patient with information by her physician and her genetic
counselor and the support of her family.
Chemoprevention:
In general, tamoxifen has been found to be effective
in reducing the risk of developing cancer and in reducing
the chance that cancer will reoccur in women at increased
risk for developing the disease.
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Introduction
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