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Breast Cancer Gene

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Last Updated: 18 September 2020

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General | Latest Info

Breast Cancer is a disease in which certain cells in BReast become abnormal and multiply uncontrollably to form tumor. Although BReast Cancer is much more common in women, this form of cancer can also develop in men. In both women and men, most common form of BReast Cancer begins in cells lining milk ducts. In women, cancer can also develop in the glands that produce milk. Most men have little or no lobular tissue, so lobular cancer in men is very rare. In its early stages, BReast Cancer usually does not cause pain and may exhibit no noticeable symptoms. As cancer progress, signs and symptoms can include lump or thickening in or near BReast; change in size or shape of BReast; nipple discharge, tenderness, or retraction; and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has BReast Cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If BReast Cancer spreads, cancerous cells most often appear in bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. A small percentage of all BReast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary BReast cancers tend to develop earlier in life than noninherited cases, and new tumors are more likely to develop in both breasts. Breast Cancer is the second most commonly diagnosed cancer in women. About one in eight women in the United States will develop invasive BReast Cancer in her lifetime. Researchers estimate that more than 276 000 new cases of invasive BReast Cancer will be diagnosed in US women in 2020. Male BReast Cancer represents less than 1 percent of all BReast Cancer diagnoses. Scientists estimate that about 2 600 new cases of BReast Cancer will be diagnosed in men in 2020. Particular gene mutations associated with BReast Cancer are more common among certain geographic or ethnic groups, such as people of Ashkenazi Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry. Cancers occur when buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form tumor. In most cases of BReast Cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in BReast. These changes, which are called somatic mutations, are not inherit. Somatic mutations in many different genes have been found in BReast Cancer cells. Less commonly, gene mutations present in essentially all of the body's cells increase the risk of developing BReast Cancer. These genetic changes, which are classified as germline mutations, are usually inherited from parent.Ssss

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

BRCA: The Breast Cancer Gene

The BRCA1 gene provides instructions for making protein that acts as tumor suppressor. Tumor suppressor proteins help prevent cells from growing and dividing too rapidly or in an uncontrolled way. The Brca1 protein is involved in repairing damaged DNA. In the nucleus of many types of normal cells, BRCA1 protein interacts with several other proteins to mend breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and they also occur when chromosomes exchange genetic material in preparation for cell division. By helping to repair DNA, BRCA1 protein plays a critical role in maintaining stability of cell's genetic information. Research suggests that BRCA1 protein also regulates activity of other genes and plays an essential role in embryonic development. To carry out these functions, BRCA1 protein interacts with many other proteins, including other tumor suppressors and proteins that regulate cell division. Mutations in the BRCA1 gene are associated with increased risk of BReast CAncer in both men and women, as well as several other types of CAncer. These mutations are present in every cell in the body and can be passed from one generation to the next. As a result, they are associated with cancers that cluster in families. However, not everyone who inherits mutation in BRCA1 gene will develop CAncer. Other genetic, environmental, and lifestyle factors also contribute to a person's CAncer Risk. Most BRCA1 gene mutations lead to production of an abnormally short version of BRCA1 protein or prevent any protein from being made from one copy of gene. As a result, less of this protein is available to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can trigger cells to grow and divide uncontrollably to form tumor. Inherit BRCA1 gene mutations have been found to increase the risk of prostate CAncer. These mutations likely reduce BRCA1 protein's ability to repair DNA, allowing potentially damaging mutations to persist in various other genes. Accumulation of damaging mutations can lead to out - of - control cell growth and division that can cause tumors to develop. Men who carry BRCA1 gene mutation may also be at increased risk for other cancers, including BReast and pancreatic CAncer. Inherit mutations in BRCA1 gene also increase risk of several other types of CAncer, including pancreatic CAncer and colon CAncer. These mutations impair the ability of BRCA1 protein to help repair damaged DNA. As defects accumulate in DNA, they can trigger cells to grow and divide in order to form tumor. It is not clear why different individuals with BRCA1 mutations develop cancers in different organs. Environmental factors that affect specific organs may contribute to the development of cancers at particular sites.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Inherited Gene Mutations

Sometimes, changes or mutations occur that prevent genes from doing their job properly. Certain mutations in BRCA genes make cells more likely to divide and change rapidly, which can lead to CAncer. All women have BRCA1 and BRCA2 genes, but only some women have mutations in those genes. About 1 in every 500 women in the United States has mutation in either her BRCA1 or BRCA2 gene. If either your mother or your father has BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation. Some groups are at higher risk for BRCA gene mutation than others, including women with Ashkenazi Jewish heritage.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Hereditary Breast and Ovarian Cancer

A number of tests are available to find out if a person has inherited mutation in BRCA1 or BRCA2. If more than one family member is interested in being test, it is best to start BRCA testing with person who has cancer of breast or ovary. If a DNA change is find, other family members may be tested for that same mutation only. Testing for BRCA mutations on stored samples of DNA from deceased relatives is also possible. Negative results can indicate one of several things: in 2002, test that could identify five large changes in BRCA1 gene was developed and has since been included in full - sequence testing of BRCA. In September 2006, another test that can identify additional large changes in both BRCA1 and BRCA2 Genes became available. The latter test is not currently used for routine BRCA1 and BRCA2 genetic testing, although this may change. If you received genetic testing for mutations in BRCA1 and BRCA2 Genes at Memorial Sloan Kettering prior to September 2006, and results were negative or uninformative, you may benefit from learning more about new testing. However, this testing is not applicable for individuals who have tested negative for specific mutation already known to be present in their family. For families with multiple cases of Breast or Ovarian Cancer but no known BRCA mutations, testing for additional Cancer - causing mutations - including changes in Genes CHEK2 and PALB2 - may be available. Such genetic testing is typically performed by testing panel of genes at the same time. Studies are currently under way to discover additional heritable gene mutations that may increase persons risk for Breast and Ovarian Cancer.


What causes HBOC?

Normally, each person has 2 copies of each gene in their body cells: 1 copy is inherited from person's mother and 1 copy is inherited from person's father. Hboc follows an autosomal dominant inheritance pattern. This means that mutation needs to happen in only 1 copy of the gene for a person to have an increased risk of getting that disease. This means that parents with gene mutation may pass along copy of their normal gene or copy of gene with mutation. Therefore, child who has parents with a mutation has a 50% chance of inheriting that mutation. Brother, sister, or parents of person who has a mutation also have a 50% chance of having inherited the same mutation. However, if parents test negative for mutation, risk to siblings significantly decreases but their risk may still be higher than average risk.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

1. Breast cancer in families

Family history is one of the unavoidable genetic risk factors for developing Breast Cancer. Ongoing research is helping identify genes that are responsible for this inherited increased risk. Brca1 and BRCA2 gene mutations are currently the best - known and most discussed genetic risk factors, but new genetic links are being discovered regularly. Below are a number of other genes that are known to influence Breast Cancer Risk. In each case, having a normal and healthy copy of gene decreases the risk of developing Breast Cancer. Risk only increases if a gene is mutated or abnormal, and therefore does not perform its natural cancer - prevention functions. Palb2 - After BRCA1 and BRCA2, PALB2 is currently the third most prevalent Breast Cancer gene. Palb2 is short for Partner and Localizer of BRCA2. In other words, it works in partnership with the BRCA2 gene to repair DNA damage and thereby prevent Breast Cancer from developing. Estimate 35% of women with mutated PALB2 gene will develop Breast Cancer by age 70. Chek2 - Checkpoint Kinase 2, or CHEK2, creates protein that helps suppress tumor growth. Having mutated CHEK2 gene doubles the risk of Breast Cancer in women. In men, it makes male Breast Cancer 10 times more likely to occur. Cdh1 - CDH1, or CaDHerin 1, is a tumor suppression gene that helps groups of cells stick together to form organized tissues. Mutations in CDH1 gene can increase the risk of forming lobular Breast Cancer, or Cancer that begins in breast milk - producing lobules. Since genes normally help cells stick together, mutations can also make it easier for individual cancer cells to break off from breast tumor and metastasize, or spread to other parts of the body. Pten - Phosphatase and TENsin homolog genes help prevent tumor growth by controlling the rate of cell division. It also causes damaged cells to self - destruct before they can become cancerous. Like CDH1, PTEN also plays a role in helping cells stick together, which can help prevent Cancer from spreading. Stk11 - Serine / Threonine Kinase 11 is another tumor suppressor. Stk11 gene mutations cause Peutz - Jeghers syndrome. Peutz - Jeghers syndrome carries increased risk for multiple types of cancer, including Breast Cancer. Tp53 - Also know as P53, tumor Protein P53 recognizes when cell DNA has been damage. It then either activates DNA repair genes or causes cell to self - destruct. If TP53 is mutate, damaged DNA will be repaired and cell will live on, perhaps becoming cancer cell. Though some TP53 mutations are inherit, most of them occur during a person's lifetime and are only found in cells that become cancerous. There are a number of other genes, including ATM, BARD1, BRIP1, CASP8, CTLA4, CYP19A1, FGFR2, H19, LSP1, MAP3K1, MRE11A, NBN, RAD51, and TERT, that are thought to also increase the risk of developing Breast Cancer when they carry mutation.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

METHODS

Some women inherit changes in certain genes that increase their risk of Breast Cancer. Genetic Testing can be done to look for mutations in some of these genes. While testing can be helpful in some cases, not every woman needs to be test, and pros and cons need to be considered carefully. When it comes to Breast Cancer risk, most important inherit gene changes are in BRCA1 and BRCA2 genes. Women with one of these gene changes are said to have Hereditary Breast and Ovarian Cancer syndrome. Women with BRCA gene change have a greatly increased risk of getting Breast Cancer, as well as increased risk of Ovarian Cancer, pancreatic Cancer, and possibly some other Cancers. Men with BRCA gene change have an increased risk of Breast Cancer, prostate Cancer, pancreatic Cancer, and possibly some other Cancers. If you have a family history of Breast Cancer, you have a higher risk of getting Breast Cancer yourself. Most women with a family history of Breast Cancer do not have inherited gene change that greatly affect their risk. Still, inherited gene change is more likely in women with strong family history of Breast Cancer, especially if family history also includes certain other Cancers, such as Ovarian, pancreatic, or prostate Cancer. The risk of having inherited syndrome is also affected by: closeness of affected family members, number of family members affected age. When your relatives are diagnosed


Genetic Counseling and Genetic Testing

Genetic testing can be done on samples of blood or saliva, or from swab of inside of the cheek. Samples are sent to the lab for testing. There are many different possible mutations in BRCA genes. Testing can be done to look for one specific mutation, or more extensive testing can be done to look for many different BRCA mutations. Approach to testing depends on the situation. For example, if someone is being tested because they have family member with known BRCA mutation, testing might focus only on looking for that specific mutation. In people of Ashkenazi Jewish descent, testing might focus on specific BRCA mutations that are most common in this group of people. But if there is no reason to suspect specific gene change, testing will likely look for many different mutations.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Test Overview

The Breast CAncer gene test is a blood test to check for changes in genes called BRCA1 and BRCA2. This test can help you know your chance of getting BReast CAncer and ovarian CAncer. The BRCA gene test does not test for CAncer itself. A woman's risk of BReast and ovarian CAncer is higher if she has BRCA1 or BRCA2 gene changes. Men with these gene changes have a higher risk of BReast CAncer. And both men and women with these changes may be at higher risk for other cancers. You can inherit gene changes from either your mother's or father's side of the family. Brca gene changes aren't common. If you or your family have certain health problems, it may mean that you have BRCA gene changes. If you have risk factors such as having one or more members of your family who have had BReast or ovarian CAncer, being diagnosed with BReast CAncer before age 50, or having Ashkenazi Jewish heritage, you may want to consider testing. There are some important things to keep in mind when you are thinking about having a BRCA gene test. Negative BRCA results do not guarantee that you will not get BReast CAncer. Brca gene changes do increase the risk of BReast CAncer. But there are other gene changes that may cause CAncer, too. If a family member has BReast or ovarian CAncer, think about asking that person to have a BRCA test before you decide to have test. If your family member's results are negative, it probably will not help to test the rest of the family. Most insurance companies will cover the cost of genetic testing if you meet conditions for testing. If you are concerned that you may have BRCA gene change, talk with your doctor. It is very important to have genetic counseling both before and after this test. It can help you understand benefits, risks, and possible outcomes of test.


Genetic Testing for Breast Cancer

You 'll need to obtain family pedigree to determine if there is a cancer development pattern within your family. Family pedigree is a chart that shows the genetic makeup of a person's ancestors, and is used to analyze inherited characteristics or diseases within the family. After outlining family pedigree, blood test will be performed to determine if you have breast cancer gene. Keep in mind that the vast majority of breast cancer cases are not associated with breast cancer gene. In addition, scientists do not know all of the genes that can cause breast cancer, so doctors can only test you for know genes. When someone with a cancer diagnosis and family history of disease has been tested and found to have altered BRCA1 or BRCA2 gene, family is said to have know mutation. If an association between development of breast cancer and breast cancer genes is make, then all family members willing to participate in genetic testing are asked to give sample of blood. For many people, knowing their test results is important because this information may help to guide future health care decisions for themselves and their families.


Genetic testing for women with breast cancer

Women with breast cancer and any of the following should consult with expert about genetic testing: anyone with blood relative with known inherited mutation in gene associated with cancer risk, breast cancer of any type diagnosed at or before age 45, breast cancer diagnosed before age 50 in women with: unknown or limited family history second breast cancer diagnosis one or more close relatives with breast, ovarian, pancreatic or high - grade prostate cancer breast cancer in both breasts or second breast cancer in same breast triple - negative breast cancer before age 60 Ashkenazi jewish ethnicity relatives with breast, ovarian, pancreatic, prostate or melanoma cancer metastatic breast cancer in women who need information to guide treatment tumor biomarker test that suggest inherit mutation breast cancer survivors who have any of above factors and had negative genetic test before 2014 should speak with genetic counselor to see if additional testing is right for them. Genetic testing has improved since then and new tests can find mutations that were previously missed by older tests.


Results

Before getting genetic testing, it is important to know ahead of time what results might or might not tell you about your risk. Genetic Testing is not perfect. Tests might not provide clear answers for some people. This is why meeting with a genetic counselor or cancer genetics professional is important, even before being test. Positive for mutation that was tested for. If this is the case, there might be steps you can take to help lower your risk of breast cancer. If youve already been diagnosed with breast cancer, positive result might affect your breast cancer treatment options. Negative for mutation test It can be reassuring to find out that the test didnt find mutation that increase your risk. But it is important to understand that genetic test results ca always guarantee youre not at increased risk. For instance, there might be a chance that you have a different mutation that you were not tested for. Inconclusive. In some cases, test might not be able to tell for sure if you have a gene mutation. Positive for variant of unknown significance. This means that the test finds gene change, but it is not clear if this particular change affects your risk. To learn more about these different types of test results, see What happens During Genetic Testing for Cancer Risk? Results of genetic testing can sometimes be complex or confusing, which is why it is important to go over them with genetic counselor or cancer genetics professional. They can explain what they might mean to you.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Why It Is Done

While BRCA1 and BRCA2 gene mutations may increase your odds of developing Breast Cancer, your odds of having either mutation are pretty small. Estimate 0. 25% of the general population carries mutated BRCA gene, or about one out of every 400 people. For some people, though, chances of having BRCA gene mutation are much higher. Genes are inherit, which is why knowing your family history is important when determining breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene. Odds can also vary depending on the person's ethnicity. For example, people of Ashkenazi Jewish descent have 2. 5% chance of inheriting BRCA mutation, or about 10 times the rate of the general population. Because overall odds are so low, most experts recommend that only people with heightened risk get test for BRCA mutations. Likewise, insurance companies often only cover Genetic Counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of: Breast Cancer diagnosed before age 50. Male Breast Cancer at any age. Multiple relatives on same side of family with Breast Cancer. Multiple Breast cancers in the same woman. Both breast and ovarian Cancer in the same woman. Ashkenazi Jewish heritage. There are also other gene mutations besides BRCA that could increase the risk of Breast Cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, Testing for Other Genetic mutations is recommended only if you are at high risk for that particular gene. Genetic Counseling is recommended for those who are interested in being tested for Breast Cancer gene mutations. You can talk to a doctor about getting referral to genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors. Since many genetic tests only look for one specific gene mutation, counselors can often help determine which mutations to test for. The genetic test itself simply involves taking small sample of blood or saliva, which is sent to the lab for analysis. Results can take several weeks or months. Test result can be positive, meaning that the patient does carry gene mutation. Negative test results indicate that they do not have that particular gene mutation. It does not, however, rule out the possibility of having mutations in other genes. It also does not rule out the possibility of developing Breast Cancer. Most Breast Cancer cases are not hereditary, so everyone should still have an early detection plan. Genetic test results can also be uncertain or ambiguous. Ambiguous test results mean that mutation has been found in gene, but it is not yet know whether that particular mutation has any effect on the chances of developing Breast Cancer. After receiving genetic test results, patient should meet again with genetic counselor to clarify what results mean.


Genetic Counseling and Genetic Testing

In the past, BReast CAncer Genetic testing only checked for mutations in BRCA1 and BRCA2 genes. Now, it is common to test for BRCA1 / 2 and multiple other high - risk gene mutations. This is called expanded panel testing or multi - gene testing. If you had BRCA1 / 2 testing in the past and had negative test results, you may be advised to have panel testing, now that it is available. Panel tests look at 28 - 84 genes, depending on the specific test. Researchers are studying how information about high - risk and moderate - risk gene mutations can help health care providers personalize medical care. Brca1 / 2 testing or panel testing should only be done in medical setting. And, it should only be done after detailed discussion of risks and benefits with a Genetic Counselor or trained provider, such as a physician or nurse.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

How To Prepare

Genetic testing can be done on samples of blood or saliva, or from swab of inside of the cheek. Samples are sent to the lab for testing. There are many different possible mutations in BRCA genes. Testing can be done to look for one specific mutation, or more extensive testing can be done to look for many different BRCA mutations. Approach to testing depends on the situation. For example, if someone is being tested because they have family member with known BRCA mutation, testing might focus only on looking for that specific mutation. In people of Ashkenazi Jewish descent, testing might focus on specific BRCA mutations that are most common in this group of people. But if there is no reason to suspect specific gene change, testing will likely look for many different mutations. While BRCA1 and BRCA2 gene mutations may increase your odds of developing breast Cancer, your odds of having either mutation are pretty small. Estimated 0. 25% of the general population carries mutated BRCA gene, or about one out of every 400 people. For some people, though, chances of having BRCA gene mutation are much higher. Genes are inherit, which is why knowing your family history is important when determining breast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene. Odds can also vary depending on the person's ethnicity. For example, people of Ashkenazi Jewish descent have 2. 5% chance of inheriting BRCA mutation, or about 10 times the rate of the general population. Because overall odds are so low, most experts recommend that only people with heightened risk get test for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of: breast Cancer diagnosed before age 50. Male breast Cancer at any age. Multiple relatives on same side of family with breast cancer. Multiple breast cancers in the same woman. Both breast and ovarian cancer in the same woman. Ashkenazi Jewish heritage. There are also other gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene. Genetic counseling is recommended for those who are interested in being tested for breast Cancer gene mutations. You can talk to a doctor about getting referral to genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors. Since many genetic tests only look for one specific gene mutation, counselors can often help determine which mutations to test for. The genetic test itself simply involves taking small sample of blood or saliva, which is sent to the lab for analysis.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Inheriting certain gene changes

About 5% to 10% of Breast Cancer cases are thought to be hereditary, meaning that they result directly from gene changes passed on from parent.S Brca1 and BRCA2: most common cause of hereditary Breast Cancer is inherited mutation in BRCA1 or BRCA2 gene. In normal cells, these genes help make proteins that repair damaged DNA. Mutated versions of these genes can lead to abnormal cell growth, which can lead to cancer. If you have inherited mutated copy of either gene from parent, you have a higher risk of Breast Cancer. On average, woman with BRCA1 or BRCA2 gene mutation has up to 7 in 10 chance of getting Breast Cancer by age 80. This risk is also affected by how many other family members have had Breast Cancer. Women with one of these mutations are more likely to be diagnosed with Breast Cancer at a younger age, as well as to have cancer in both breasts. Women with one of these gene changes also have a higher risk of developing ovarian cancer and some other cancers. In the United States, BRCA mutations are more common in Jewish people of Ashkenazi origin than in other racial and ethnic groups, but anyone can have them. Other genes: Other gene mutations can also lead to inherited breast cancers. These gene mutations are much less common, and most of them do not increase the risk of Breast Cancer as much as BRCA genes. Atm: ATM gene normally helps repair damaged DNA. Inheriting 2 abnormal copies of this gene causes the disease ataxia - telangiectasia. Inheriting one abnormal copy of this gene has been linked to a high rate of Breast Cancer in some families. The TP53: TP53 gene helps stop growth of cells with damaged DNA. Inherited mutations of this gene cause Li - Fraumeni syndrome. People with this syndrome have an increased risk of Breast Cancer, as well as some other cancers such as leukemia, brain tumors, and sarcomas. This mutation is a rare cause of Breast Cancer. Chek2: CHEK2 gene is another gene that normally helps with DNA repair. Chek2 mutation increases Breast Cancer Risk. Pten: PTEN gene normally helps regulate cell growth. Inherit mutations in this gene can cause Cowden syndrome, rare disorder that puts people at higher risk for both cancer and benign tumors in their breasts, as well as growths in the digestive tract, thyroid, uterus, and ovaries. Cdh1: Inherited mutations in this gene cause hereditary diffuse gastric Cancer, syndrome in which people develop a rare type of stomach cancer. Women with mutations in this gene also have an increased risk of invasive lobular Breast Cancer. Stk11: Defects in this gene can lead to Peutz - Jeghers syndrome. People affected by this disorder have pigment spots on their lips and in their mouths, polyps in urinary and digestive tracts, and higher risk of many types of cancer, including Breast Cancer. Palb2: PALB2 gene makes protein that interacts with protein made by BRCA2 gene.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

What causes HBOC?

There are options available for people with HBOC who are interested in having child and reducing that childs risk of this hereditary syndrome. Preimplantation genetic diagnosis is a medical procedure done along with in - vitro fertilization. It allows people who carry specific known genetic mutations to reduce the likelihood that their children will inherit condition. For PGD, women's eggs are removed and fertilized in the laboratory. When embryos reach a certain size, 1 cell is removed and tested for specific hereditary condition. Parents can then choose to transfer embryos that do not have mutation. Pgd has been used for over 2 decades for several hereditary CAncer syndromes. However, it is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

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