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For some women a genetically inherited trait puts them at very high risk for developing breast cancer (BRCA Mutation).  Breast reconstructive techniques have advanced tremendously in recent years allowing preservation of beauty when a choice is made to undergo risk reducing prophylactic (preventive) mastectomy.  The Center for Restorative Breast Surgery offers BRCA detection services with a simple in-office test that may be performed at the time of your consultation.


Heredity and Breast Cancer—the BRCA Gene

BRCA Gene Screening

Breast Cancer Genetic Counseling

Most Commonly Asked Questions

Prophylactic Mastectomy for BRCA Gene Carriers

Who Should be Tested for the BRCA Gene Mutations?

Genetic Risk Factors for Breast Cancer


Heredity and Breast Cancer—the BRCA Gene

What do we know about heredity and breast cancer?

Breast cancer is a common disease. Each year, approximately 200,000 women in the United States are diagnosed with breast cancer, and one in nine American women will develop breast cancer in her lifetime. But hereditary breast cancer — caused by a mutant gene passed from parents to their children — is rare. Estimates of the incidence of hereditary breast cancer range from between 5 to 10 percent to as many as 27 percent of all breast cancers.

In 1994, the first gene associated with breast cancer — BRCA1 (for BReast CAncer1) was identified on chromosome 17. A year later, a second gene associated with breast cancer — BRCA2 — was discovered on chromosome 13. When individuals carry a mutated form of either BRCA1 or BRCA2, they have an increased risk of developing breast or ovarian cancer at some point in their lives. Children of parents with a BRCA1 or BRCA2 mutation have a 50 percent chance of inheriting the gene mutation.

What do we know about hereditary breast cancer in Ashkenazi Jews?

In 1995 and 1996, studies of DNA samples revealed that Ashkenazi (Eastern European) Jews are 10 times more likely to have mutations in BRCA1 and BRCA 2 genes than the general population. Approximately 2.65 percent of the Ashkenazi Jewish population has a mutation in these genes, while only 0.2 percent of the general population carries these mutations.

Further research showed that three specific mutations in these genes accounted for 90 percent of the BRCA1 and BRCA2 variants within this ethnic group. This contrasts with hundreds of unique mutations of these two genes within the general population. However, despite the relatively high prevalence of these genetic mutations in Ashkenazi Jews, only seven percent of breast cancers in Ashkenazi women are caused by alterations in BRCA1 and BRCA2.

What other genes may cause hereditary breast cancer?

Not all hereditary breast cancers are caused by BRCA1 and BRCA2. In fact, researchers now believe that at least half of hereditary breast cancers are not linked to these genes. Scientists also now think that these remaining cases of hereditary breast cancer are not caused by another single, unidentified gene, but rather by many genes, each accounting for a small fraction of breast cancers. In our Breast Cancer Questions researchers discuss a recent advance in understanding hereditary breast cancer, and the challenges that remain.

Is there a test for hereditary breast cancer?

Hereditary breast cancer is suspected when there is a strong family history of breast cancer: occurrences of the disease in at least three first or second-degree relatives (sisters, mothers, aunts). Currently the only tests available are DNA tests to determine whether an individual in such a high-risk family has a genetic mutation in the BRCA1 or BRCA2 genes.

When someone with a family history of breast cancer has been tested and found to have an altered BRCA1 or BRCA2 gene, the family is said to have a “known mutation.” Positive test results only provide information about the risk of developing breast cancer. The test cannot tell a person whether or when cancer might develop. Many, but not all, women and some men who inherit an altered gene will develop breast cancer. Both men and women who inherit an altered gene, whether or not they develop cancer themselves, can pass the alteration on to their sons and daughters.

But even if the test is negative, the individual may still have a predisposition to hereditary breast cancer. Currently available technique can’t identify all cancer-predisposing mutations in the BRCA1 and BRCA2 genes. Or, an individual may have inherited a mutation caused by other genes. And, because most cases of breast cancer are not hereditary, individuals may develop breast cancer whether or not a genetic mutation is present.

How do I decide whether to be tested?

Given the limitations of testing for hereditary breast cancer, should an individual at high risk get tested? Genetic counselors can help individuals and families make decisions regarding testing. (For a description of what genetic counselors do, see Frequently Asked Questions About Genetics.)

For those who do test positive for the BRCA1 or BRCA2 gene, surveillance (mammography and clinical breast exams) can help detect the disease at an early stage. A woman who tests positive can also consider taking the drug tamoxifen, which has been found to reduce the risk of developing breast cancer by almost 50 percent in women at high risk. Clinical trials are now under way to determine whether another drug, raloxifene, is also effective in preventing breast cancer.

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http://www.genome.gov/page.cfm?pageID=10000507

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BRCA Gene Screening

The theory of genetic risks factors for certain cancers has been described since the time of ancient Rome. In 1866, Paul Broca, a French physician, reported ten cases of breast cancer spanning four generations of his wife’s family. Recently it has been shown that genetic predisposition accounts for five to ten percent of ovarian and breast cancers. Mary-Claire King and associates, in 1990, localized the first major susceptibility gene for breast and ovarian cancer on chromosome 17 and have referred to it as BRCA1 (BR=Breast and CA=Cancer). Since that time BRCA2, which predisposes its carriers predominately to breast cancer, has also been isolated.

BRCA is thought to be a tumor suppressor gene that codes for a protein that regulates transcription of genes involved in cellular proliferation. To date, over 100 mutations on BRCA1 which are associated with truncation of the protein have been discovered. Missense mutations, which are aberrations in the DNA that do not appear to confer any changes to the protein, have also been described, but, the clinical relevance of these changes is unclear. The “two hit” model for genetic predisposition assumes that a carrier is born with a mutation in one of the two BRCA genes, but that the normal BRCA gene imparts its protective effects until such time that the normal gene undergoes a mutation for what ever reason (e.g. environmental factor). At that point, the tumor suppressor protein is no longer encoded properly and a cancer develops.

Seven percent of breast cancers and ten percent of ovarian cancers are related to susceptibility genes, mainly BRCA1 and BRCA2. Obviously not all susceptibility genes have yet been identified. It is suspected that as many as 1,000,000 (about 0.5% – 0.6%) United States women are carriers of the altered BRCA1 or BRCA2 gene. Ashkenazi Jewish women are at particularly high risk with over 1% carrying the gene. Women that carry the mutation have an 82% risk of breast cancer and a 44% risk for ovarian cancer (BRCA1) by the age of 70. Interestingly, these women are often afflicted at a younger age with a 59% risk of breast cancer before the age of fifty, and often these patients will be afflicted with cancer before the age of 40.

The American Society of Clinical Oncology recommends that cancer predisposition testing be offered only when: 1) the person has a strong family history of cancer or very early onset of the disease; 2) the test can adequately be interpreted; and 3) the results will influence medical management. However, “strong family history” was not defined. Early studies that tested first generation relatives of cancer patients afflicted before the age of forty showed that approximately 53% had a deleterious mutation in BRCA1. If the relative was diagnosed with cancer between the age of 40 and 60, the mutation rate dropped to 16%. Therefore, determination of who should be tested should be based both on the number of relatives that were affected, and equally as important, the age at which they were affected.

Management of patients that carry the aberration of the BRCA gene is still evolving. Medical modifications, at a minimum, should include increased screening for breast and ovarian cancer, and discussions of prophylactic surgery. Lifestyle modifications should include refraining form alcohol, weight loss in the overweight patient, possible use of oral contraceptives, and cessation of smoking—all of which have been shown to have a deleterious effect on breast cancer. The use of antioxidants in this group of patients may also prove to be of benefit.

Counseling for genetic testing, as per the American Society of Clinical Oncology, should involve the following eleven points:

  1. Information on the specific test being performed
  2. Implications of positive and negative results
  3. Options for estimation without genetic testing
  4. Risk of passing a mutation to a child
  5. Technical accuracy of the test
  6. Possibility that the test will not be informative
  7. Fees involved in testing
  8. Risk of psychological distress
  9. Risk of insurance or employer discrimination
  10. Confidentiality issues
  11. Options for medical surveillance and screening following testing

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Breast Cancer Genetic Counseling

  • What is a BRCA gene?
  • How were the BRCA genes found?
  • Why are Ashkenazi Jewish women especially at risk?
  • Why was the breast cancer predisposition gene test created?
  • Why undergo genetic counseling and BRCA testing?
  • Who can be tested for BRCA mutations?
  • What can the test tell me?
  • What is my risk if I am a BRCA carrier?
  • What can I do if I am a BRCA mutation carrier?
  • The details of BRCA testing?

What is a BRCA gene?

A functioning BRCA gene prevents tumor growth by limiting cell division. Every cell in the body has two copies of each gene. Individuals predisposed to breast cancer are born with a mutation in one of their two copies of a BRCA gene. For breast cancer to occur, both BRCA copies must be mutated. Once a second BRCA mutation is acquired, the cell divides uncontrollably, resulting in a tumor. Individuals beginning life with one mutated BRCA gene are pre-disposed to breast cancer development because their cells have only one safety belt (1 normal BRCA gene) to prevent mass cell division. Non-breast cancer predisposed individuals have two safety belts (2 normal BRCA genes) at birth and, thus, have a lower risk of developing a breast tumor.

How were the BRCA genes found?

The localization of BRCA1 and BRCA2 within the human genome enabled the creation of the breast cancer predisposition genetic tests. The BRCA genes were decisively identified as loci for breast cancer development upon mutation through genetic research involving 237 large, breast cancer-affected families. The BRCA1 and BRCA2 genes were pinpointed to chromosome 17 and chromosome 13 in 1994 and 1995 respectively.

Why are Ashkenazi Jewish women especially at risk?

Ashkenazi Jewish women display a particularly high prevalence of breast cancer. The localization of BRCA1 and BRCA2 has enabled the realization that three mutations may be the cause of one-third of breast cancer cases in Ashkenazi Jewish women under the age of forty. High rates of particular genetic mutations among withdrawn populations such as the Ashkenazi Jews can be explained by the founder effect. The founder effect is predominant among culturally or geographically isolated groups and is apparent when single mutations are linked to genetic transmission in the majority of occurrences.

Why was the breast cancer predisposition gene test created?

As stated by Gauthier-Villars, Gad, Caux, et al., “it must be remembered that the main purpose for breast cancer predisposition testing is to provide women at high risk with better supportive care. Today, a major challenge for clinical research is to identify the modalities for prevention that will allow reduction of the morbidity and the mortality linked to a high predisposition to breast cancer” (Gauthier-Villars, Gad, Caux, et al., 1171).

Why undergo genetic counseling and BRCA testing?

According to Lerman, Seay, Balshem, and Audrain, healthy female relatives of individuals with ovarian or breast cancer tend to exaggerate their risk of incurring either form of cancer and, thus, accurate risk assessment is essential to quality genetic counseling for breast cancer. Breast cancer genetic counseling serves the goal of helping women to analyze their own and their relatives’ risk of developing breast cancer.

In BRCA screening, genetic counselors offer services in compiling family histories, personalizing epidemiology, and, more recently, conducting genetic testing to empower healthy women of families stricken by breast cancer to alter their lifestyles and healthcare to ensure avoidance or early detection of breast cancer. In addition, breast cancer victims and healthy members of a single family can enable accurate screening of female family members by obtaining a sequence of their BRCA genes. Detection of a familial BRCA mutation in individuals outside of the Ashkenazi Jewish population requires time-consuming genetic analysis of a large number of affected and unaffected family members in order to identify the specific BRCA mutation for a particular family.

Who can be tested for BRCA mutations?

The BRCA tests are currently offered only to individuals with at least a 20% likelihood of carrying a well-defined mutation in BRCA1 or BRCA2. In order for predisposition testing to occur, the familial mutation must already be well characterized by sequencing the BRCA genes of affected and unaffected family members. A first-degree relative of a carrier of a BRCA1 or BRCA2 mutation, whether mother, daughter, or sister, generally faces a 50% risk of combating breast cancer in the course of her lifetime.
Numerous medical and genetics organizations have released suggestions to guide the process of testing for the presence of a mutation in the BRCA loci, including the American Society of Clinical Oncology (ASCO), the American Society of Human Genetics (ASHG), the National Society of Genetic Counselors (NSGC), the task force of the Cancer Genetics Studies Consortium (CGSC) of National Human Genome Research Institute, the task force of the National Institutes of Health — Department of Energy, and the French National Institute of Health and Medical Research.

These organizations agree that testing for a BRCA1 or BRCA2 mutation, as with any well-defined genetic mutation, requires the informed consent of the individual to be tested after extensive counseling as to the epidemiology of the mutation of interest, the family history of the individual, and the potential impact of test results, including mental, physical, and insurance discrimination effects. In addition, children should not be tested for BRCA mutations.

The advisory organizations disagree, however, on the appropriate professionals to conduct predisposition screening and on notification of family members of genetic test results without the consent of the tested individual. The ASHG and other groups believe that only genetic counselors or geneticists should conduct testing and that relatives have the right to genetic test results if the course of the familial disease may be improved or avoided by more rigorous screening and monitoring. The ASCO, in contrast, demands that clinical oncologists also be allowed to perform BRCA tests and that the tested individual’s permission be obtained prior to release of any results. The groups agree that relevant professionals from a variety of fields should be consulted, including psychologists, radiologists, surgeons, geneticists, and oncologists.

What can the test tell me?

Testing positive or negative for a BRCA mutation is simply a risk assessment, not a certainty of experiencing or avoiding, respectively, breast cancer. Individuals with a BRCA mutation have an 80% risk of developing breast cancer by age 80. Therefore, 20% of BRCA mutation carriers never develop breast cancer. A first-degree relative of a carrier who tests negative for the mutation has the same breast cancer risk as women of the general population, namely 11%, down from the 50% estimated likelihood.

What is my risk if I am a BRCA carrier?

Mutations in either BRCA1 or BRCA2 account for about two-thirds of all familial breast cancer occurrences, with BRCA1 variation causing 28% and BRCA2 responsible for 37%. Women who carry either BRCA mutation have a roughly eight in ten likelihood of developing breast cancer by the age of seventy. Mutation of the BRCA1 gene and, to a lesser extent, BRCA2, also predisposes women to ovarian cancer. BRCA1 has been associated with 80% of familial ovarian and breast cancers with 15% occurring with BRCA2 mutation, thus accounting for 95% of all familial concurrent ovarian and breast cancers.

The resultant breast cancer forms of BRCA1 and BRCA2 mutations can be distinguished on the basis of prevalence of medullary tumors and tubule formation. Both BRCA1 and BRCA2-related breast tumors commonly invade the duct system and “…exhibit poor histologic grade,” BRCA1 is linked to medullary tumors and extremely rapid division of cells while BRCA2 tumors feature “…a low rate of tubule formation rather than a high mitotic index” (Gauthier-Villars, Gad, Caux, et al., 1175). Studies of familial breast cancer have yielded mixed results on the prognosis of BRCA1- and BRCA2-linked breast cancers relative to non-familial breast cancers.

What can I do if I am a BRCA mutation carrier?

Women with a high risk of breast cancer development can enhance their likelihood of avoiding breast cancer by engaging in one or more of the following treatment options: rigorous cancer surveillance, prophylactic mastectomy, prophylactic oophorectomy, and chemoprevention via Tamoxifen treatment.

Experts and patients alike have reached consensus that increased surveillance is essential for high-risk women. BRCA carriers 25 years of age and older should be seen twice yearly by a specialist and obtain a mammogram annually. In contrast to more invasive alternatives, heightened breast examination avoids tissue removal and harmful side effects for individuals who never incur breast cancer. Unfortunately breast cancer develops in 80% of BRCA mutation carriers and the value of surveillance depends on the patient’s long-term cooperation.

Probably the greatest debate for BRCA mutation carriers is whether or not to undergo a prophylactic mastectomy in order to reduce risk of breast cancer development, the effects of radiation and chemotherapy if diagnosed, and the mental stress of impending development of breast cancer. Prophylactic mastectomy, as a major appearance-altering surgery, poses negative effects, such as significant mental stress, including feelings of lost femininity and beauty, as well as the possibility of complications in surgery. The tissue loss inherent in prophylactic mastectomy is irreversible. In addition, prophylactic mastectomies reduce but do not remove the likelihood of breast cancer. High-risk women are, however, 90% less likely to experience breast cancer following removal of both breasts.

Prophylactic oophorectomy, or removal of the ovaries, is an additional choice for women with a high risk of breast cancer because exposure to ovary-derived estrogen enhances risk of breast cancer. If conducted before age 40, this procedure reduces breast cancer risk by 50% in comparison with natural menopause for both BRCA1 carriers and women in the general population. Oophorectomy allows high-risk patients to maintain breast tissue but forces early menopause. Unfortunately, post-oophorectomy hormone replacement therapies may enhance a woman’s risk of uterine cancer or breast tumor development.

Subjecting BRCA carriers to prophylactic chemotherapy and radiotherapy has yielded conflicting results and carries uncertain side effects, especially for young women. Treatment of high-risk women with Tamoxifen, an agent that interferes with estrogen, has, in some studies, been shown to lower the risk of breast cancer occurrence in high-risk patients in the course of treatment but post-treatment preventative value is still unclear. In addition, although participants do not sacrifice tissue, those over the age of fifty suffer increased risk of uterine cancer, blood clots, and cataracts with Tamoxifen treatment.

The details of BRCA testing?

Finding an altered portion of the BRCA1 or BRCA2 gene can take several weeks and BRCA testing may be expensive and/or not covered by health insurance. In addition, tested individuals should consider not informing their insurance companies in order to avoid rate hikes with finding of a mutation (insurance discrimination).


Most Commonly Asked Questions

1. How common are breast and ovarian cancer?

Breast cancer is the most common type of cancer among American women, affecting about 1 in 8 during their lifetime. Ovarian cancer affects about 1 in 70 women. In 2001, about 180,000 individuals in the United States were diagnosed with breast cancer. As an individual ages, the chance of developing cancer increases. Breast cancer is uncommon in men, with male breast cancer accounting for less than 1% of all cases of breast cancer.

2. How common is hereditary breast and ovarian cancer?

It has been estimated that about 5 to 10 percent of all female breast and ovarian cancer cases are hereditary. The proportion of male breast cancer that is hereditary is thought to be similar. Hereditary cancers occur as the result of inheriting an alteration in a gene that increases the likelihood of developing breast or ovarian cancer. In most families with this inherited alteration in a gene, several individuals will be affected with cancer.

3. How can an increased likelihood for breast cancer be inherited?

Inherited information is contained in every cell in our body on structures called chromosomes. We have 46 chromosomes that come in 23 pairs; one member of each pair comes from our father, and the other from our mother. Each chromosome is made up of thousands of genes. Genes, like chromosomes, come in pairs. They are packages of genetic information (DNA) that act as instructions for making the substances that help our bodies to function properly. An alteration in this genetic information can interfere with proper body functions by causing the gene to no longer work. These gene alterations are called mutations.

BRCA1 and BRCA2 are genes involved in cell growth, division, and repair of damage to DNA that occurs during ones lifetime when a spelling error is made in the genetic instructions. An altered (mutated) BRCA1 or BRCA2 gene increases the likelihood that cancer will develop. Individuals with mutations in either of these genes may be diagnosed with cancer at an earlier age and may develop breast cancer in both breasts (bilateral cancer). The most common types of cancers associated with BRCA1 and BRCA2 alterations are female breast and ovarian cancers. Having a BRCA2 mutation increases a man’s chance of developing breast cancer. Men with BRCA1 mutations may also have an increased risk to develop breast cancer.

It is important to remember that the majority of all breast cancers are not hereditary. Of those that are hereditary, about a third are due to mutations in the BRCA1 gene. About a third of the remaining hereditary breast cancers are due to mutations in the BRCA2 gene. There are additional, as yet unidentified breast cancer genes that account for the remaining hereditary breast cancer clusters. Other genes may account for the smaller fraction of families with both breast and ovarian cancer.

4. What are the chances of inheriting an altered BRCA1 or BRCA2 gene?

Both of the BRCA genes, BRCA1 and BRCA2, are inherited in an autosomal dominant fashion. Autosomal means that both men and women can inherit and pass along a BRCA mutation. Dominant means that it only takes one altered breast cancer gene to cause the increased likelihood for developing cancer. All individuals, whether they have cancer or not, have two copies of both BRCA genes, one copy from each parent. If an individual has a parent with a BRCA1 or a BRCA2 mutation, he or she may either inherit that parent’s altered (non-working) BRCA genes or the working BRCA genes. Therefore, that individual has a 50 percent chance of inheriting an altered BRCA gene and the increased likelihood to develop certain cancers. Likewise, the individual has a 50 percent chance of not inheriting an altered BRCA gene and would then have the same risk for developing cancer as a person in the general population.

5. Are certain individuals more likely to have a particular gene mutation?

Studies have shown that there are specific mutations of the BRCA1 and BRCA2 genes that are common in persons of Eastern European Jewish (Ashkenazi) origin. These mutations are called 185delAG and 6174delT. About 2 out of 100 individuals of Ashkenazi background have one of these mutations in their BRCA genes. Women of Ashkenazi backgrounds who have these mutations have an increased chance of developing breast and ovarian cancers. The same is true for other mutations of the BRCA genes. Our research indicates that about a quarter of women of Jewish background who are diagnosed with breast cancer before age 41 have one of these mutations.

In addition to the 185delAG mutation of BRCA1 and the 6174delT mutation of BRCA2, there is another BRCA1 mutation called 5382insC that is also more common in those of Ashkenazi Jewish background. One in 40 Ashkenazi Jewish individuals have one of the three most common mutations of BRCA1 or BRCA2. Some families of Jewish origin with breast and ovarian cancer have been found to have mutations other than the three recurring ones, although mutations elsewhere are not as common. Certain BRCA mutations also appear more frequently in individuals from some Scandinavian countries, and other geographically isolated areas such as Iceland.

6. How are BRCA1 AND BRCA2 detected?

It is possible to test for BRCA mutations. By taking a blood sample from someone who has had breast or ovarian cancer, the laboratory can detect alterations in these genes. Once an alteration has been found in a BRCA gene in someone with cancer, we can look for that same alteration in family members who have or have not had cancer. Presently, testing is not routinely available on material, such as stored tumors from deceased family members. Testing can also be performed on individuals without cancer even if there is no affected relative who wishes or is able to be tested. If a mutation is found, screening guidelines, described later in this document, would be recommended. However, the absence of a BRCA mutation in the unaffected person may be difficult to interpret. This is because the cancers in the family may have been due to different genes or other factors.

7. What if testing does not detect a BRCA1 OR BRCA2 gene?

Negative results (meaning a BRCA1 or BRCA2 mutation is not found) can mean several things. First, it might mean that there is a BRCA1 or BRCA2 gene mutation that cannot be detected by the testing method utilized. No one testing method will find all BRCA mutations. It could also mean that a different gene is responsible for the cancers in the family. Families who do not have a mutation in one of the genes may be interested in pursuing testing for other breast cancer genes in the future should other genetic tests become available. It is also possible that the cancers in the family are not hereditary. Since breast cancer is a common disease, by chance alone, more than one woman in a given family may have breast cancer. Finally, some individuals may participate in studies that only test for certain mutations (i.e. 185delAG) in the BRCA genes. If the particular mutation being tested for is not found in these individuals, there still may be a mutation in the BRCA genes for which he/she was not tested.

8. What if testing reveals that an individual has inherited an altered BRCA1 gene?

Women who inherit a BRCA1 mutation have an increased risk for developing breast and ovarian cancers. Research is taking place to determine the exact risks for developing these cancers. These risks may vary from family to family and from one individual to another. Women who have an altered BRCA1 gene have between a 50- 85 percent risk of developing breast cancer by age 70. Their risk for ovarian cancer ranges from 40-60 percent by age 85. A woman who has already had breast cancer and is found to have an altered BRCA1 gene has an increased risk for breast cancer in her other breast as well as for ovarian cancer. Recent studies suggest that up to 25-30 percent of women with a BRCA mutation may develop a contralateral or opposite breast cancer within ten years after an initial breast cancer diagnosis.

In addition, men and women with a BRCA1 mutation may have an increased risk for developing colon cancer. Men with BRCA1 mutations also have an increased risk for developing prostate cancer, although the risk is not as high as for breast and ovarian cancer in women. During their lifetime, individuals who have inherited a BRCA1 mutation may develop one or more cancers, or none at all. It is not possible to predict ahead of time what type of cancer, if any, such a person will develop.

9. What if testing reveals an inherited BRCA2 mutation?

Both men and women who inherit a BRCA2 mutation have an increased chance for developing breast cancer. Women who have an altered BRCA2 gene appear to have a similar risk of developing breast cancer compared to women with BRCA1 mutations. The risk for ovarian cancer is also increased. Studies suggest that the ovarian cancer risk is between 16 and 27 percent, respectively. The chance for a male with a BRCA2 mutation to develop breast cancer is quite low, but is considerably higher than the chance for male breast cancer in the general population. We do not have as much information about additional cancer risks with a BRCA2 mutation, although some studies suggest that colon, pancreatic, skin (melanoma), and prostate cancer risk may also be elevated. Further research is ongoing to better define the disease spectrum and these risks.

10. What if I have a “variant” in a BRCA gene?

Genes are written in letters called bases. There may be different spellings of bases in different people. Sometimes, a different spelling of bases can cause a disease. We are still learning which spellings are “normal” variants and which are “abnormal” and increase the risk for disease. If you have a “variant” BRCA gene we may not be able to tell you if this is a normal pattern. We may be able to test other family members, or do other lab tests to help learn if this variant increases your risk for cancer. However, there are times we cannot tell if a variant will increase your risk. If you have a variant we will advise you to follow breast and ovarian cancer screening recommendations.

11. If a woman has an altered BRCA gene, what are the options?

A woman with an altered BRCA gene has several options. The goal of these options is to prevent cancers or to find cancers at the earliest possible stage when they are most easily treated. Women with BRCA alterations should be sure to practice regular breast cancer screening. This means having yearly mammograms, having breast examinations by a physician at frequent intervals, and performing monthly breast self-examinations. Mammography screening and physician examination should start at least by age 25, and self-examination even earlier. Mammography does not detect all cancers at early stages. New screening approaches (breast ultrasound and/or breast MRI performed annually six months after the annual mammogram and/or more frequent mammography) are also being investigated.

Screening for ovarian cancer is more difficult and current tests cannot always find early ovarian cancers. We generally recommend twice-a year ultrasound of the ovaries, pelvic examinations, and a blood test called CA125. The age at which to begin ultrasound screening remains unclear; however, we usually recommend beginning ultrasound screening starting around age 35. We now believe that the greatest risk for ovarian cancer in women with BRCA mutations is in the mid to late 40′s; however, studies indicate that women with BRCA mutations remain at increased risk for ovarian cancer in their later years of life as well.

Colon cancer screening is also recommended using colonoscopy on a regular basis starting at age 40-50. If there is no family history of colon cancer, a colonoscopy should be performed every 3 to 5 years.

Another option is to take part in chemoprevention trials. These are experimental trials that use drugs in an attempt to prevent or delay the development of cancer. Examples are tamoxifen or raloxifene or other new agents that may prevent breast cancer. While tamoxifen has been shown to lower breast cancer risk in women with a family history of the disease, it is not clear whether and to what extent it is will be effective in preventing breast cancers among women with BRCA1 and BRCA2 mutations. Other studies suggest that oral contraceptives may reduce risk of hereditary ovarian cancer, although an increase in breast cancer risk has not been excluded.

A third option is to have surgery to remove an at-risk organ before cancer develops. An example of this would be risk-reducing mastectomy, a type of surgery to remove the breasts in an attempt to prevent breast cancer. Women can also have their ovaries and fallopian tubes removed, a procedure known as “risk-reducing salpingo-oophorectomy,” to decrease the chances of developing ovarian cancer. We do know that in rare cases, even these surgeries have not prevented breast, ovarian, or peritoneal cancers from occurring. For this reason, following risk-reducing removal of the ovaries, CA125 testing may still be considered due to the small risk of peritoneal cancer. Recent studies indicate that the earlier oophorectomy is performed, the greater the protection against both breast and ovarian cancer.

We have observed cases of early-stage ovarian cancer (undetected by ultrasound) in women who have had risk-reducing ovarian surgery, which highlights the limitations of ovarian cancer screening.

12. If a man has an altered BRCA gene, what are the options?

Because of the increased prostate cancer risk, prostate cancer screening is recommended for males with BRCA1 or BRCA2 mutations beginning between ages 40 and 50. Such screening consists of an annual digital rectal examination and serum prostate specific antigen (PSA) screening.

We advise the use of colonoscopy to screen for colon cancer every 3 to 5 years beginning between ages 40 and 50.

13. If a person doesn’t want genetic testing, what are the options?

It is possible to assess a person’s familial cancer risk without genetic testing. Testing may sometimes, but not always, improve the estimate of that risk. If a person does not have testing, but does have a close relative or multiple relatives who had breast cancer at an early age, or ovarian cancer at any age, it is important to start screening for both of these cancers. Screening for breast cancer involves yearly mammograms, physician examinations and monthly self-examination. Ovarian screening consists of physician exam, transvaginal ultrasound, and CA125 blood tests.

14. What are the possible risk and benefits of BRCA1 and BRCA2 testing?

The following risks and benefits should be considered before undergoing testing. There is no physical risk from testing other than that of a routine blood draw. The process of genetic testing may be emotionally difficult regardless of whether a BRCA1 or BRCA2 mutation is found. Once an alteration is found, this result may indirectly provide information about other family members, who may have chosen not to be tested. In addition, health care costs for the cancer screening and prevention options may or may not be covered by health insurance.

Another issue of genetic testing is the possibility that the results could be used by an employer or insurance company to discriminate against an individual. Insurers may seek higher health insurance rates, cancel or deny policies for individuals with genetic “pre-existing conditions”. Several states have outlawed “genetic discrimination” by insurers but no such law currently exists in New York. State laws may not apply to some businesses that provide their own health insurance. At present, however, we are not aware of any instances of genetic discrimination against any individuals who have received breast and ovarian cancer genetic testing as part of research studies at Memorial Hospital. Some insurers have begun to cover costs of genetic testing.

The possible advantages of learning BRCA1 and BRCA2 test results include: reduced uncertainty about cancer risk, the ability to appropriately increase or decrease cancer screening depending on the results of testing, and consider other options for cancer risk-reduction.

15. How is the confidentiality of genetic testing information protected?

In New York State, by law, the results of a person’s genetic test can be given to no one without that person’s written permission. At Memorial, testing is generally offered as part of research studies. For this reason, test results are stored in a file separate from the regular medical record. In many cases, we have obtained certificates of confidentiality from federal agencies to protect research information in these files. Should you verbally communicate test information to anyone else, that information may be recorded in your medical record. Should a person desire counseling for cancer risk based only on family history, that information will be part of the medical record.

16. Will insurance cover genetic counseling and testing?

We have successfully recovered costs for genetic counseling for cancer risk from many insurance plans. Because of special concerns about confidentiality of genetic testing, many individuals have chosen to pay directly for testing. Increasingly, however, some insurers and managed care providers are covering costs of genetic testing for cancer risk. Individuals may want to learn more about the policies of their health care provider prior to submitting charges for genetic testing.

17. Should I be tested?

The decision to participate in BRCA1 or BRCA2 testing is a complicated one. Individuals and families must not only weigh the risks and benefits of testing, they must also consider their unique situations. Ultimately, individuals must make their own decisions. These are best made after discussion with genetic counselors, physicians, and other health care professionals experienced in this area.

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Prophylactic Mastectomy for BRCA Gene Carriers

A new Mayo Clinic study indicates that prophylactic removal of both breasts reduces the risk of a subsequent breast cancer by 89.5 – 100 percent in women known to be carriers of mutations in the BRCA1 and BRCA2 breast cancer susceptibility genes — and thus at extremely high risk for developing the disease.

The study, published in the Journal of the National Cancer Institute, followed 26 high-risk women with altered BRCA1 and BRCA2 breast cancer susceptibility genes. All of the women had previously undergone surgery to have their breasts removed. During the follow-up period — averaging 13.4 years — none of the women developed breast cancer.

“Calculations predict that six to nine breast cancers should have developed in this group of carriers without prophylactic surgery,” said Dr. Lynn Hartmann, the lead investigator on the study. “That translates into a risk reduction of 89.5 percent to 100 percent for bilateral prophylactic mastectomy.”

An earlier Mayo Clinic study followed 214 women with a strong family history of breast cancer who had previously had prophylactic mastectomy. Women in this surgical group were compared with their sisters who had not had prophylactic mastectomy. That study showed that prophylactic mastectomy reduced the risk of subsequent breast cancer by approximately 90 percent for high-risk women.

For this new study, Hartmann’s team determined the BRCA1 and BRCA2 status of these original 214 high-risk women. Blood samples were obtained from 176 of the 214 women. Twenty-six of these women were identified to have altered BRCA1 and BRCA2 genes and they formed the study group for the new study.

“Our previous study had shown that prophylactic mastectomy reduced subsequent breast cancer risk substantially in women who had the procedure because of a strong family history,” said Hartmann. “But a question remained: Would the procedure be able to reduce risk in the highest risk group — namely BRCA1 and BRCA2 carriers?”

Hartmann said that this new study supported the conclusion that prophylactic mastectomy did have a significant preventive benefit in women with the BRCA1 and BRCA2 genetic mutations. She added that even though the number of women in the study (26) was small, a similar study by Dutch researchers on a larger group of women demonstrated the same benefit.

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