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Genetic Test For Breast Cancer

Summarized by PlexPage
Last Updated: 16 September 2020

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General | Latest Info

Breast Cancer is a disease in which certain cells in the 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 the breast; change in size or shape of the 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 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 the 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

British Columbia Specific Information

Abstract Background: majority of breast cancers are thought to occur sporadically, with approximately 5% thought to be due to inherited susceptibility to cancer. The most commonly mutated genes predisposing women to breast cancer are BRCA1 and BRCA2. The Hereditary High - Risk Clinic at BC Cancer organizes breast screening and provides assessment and management recommendations for Women with Hereditary breast Cancer Risk. A study was done to ascertain the effectiveness of the clinic and identify areas of need. Methods: retrospective chart review was conducted using BC Cancer data for all patients seen at High - Risk Clinic from 1997 to 31 July 2015. Study subjects include women with confirmed gene mutations that predispose them to increased risk for breast cancer and women who were untested but had first - degree relatives with confirmed mutation. Patient data was anonymized prior to analysis. Results: study population includes 654 women first seen in the Clinic at a mean age of 42 years. Of these, 151 patients had previous diagnoses for cancer, including 142 breast cancers. During management of these women at the clinic, total of 80 new breast tumors were identified and 77 of these were found to be malignant. Diagnosis occurs at mean age of 48 years. The majority of new cancers were identified by either MRI or mammographic screening. During the study period, 38% of patients underwent prophylactic mastectomy and over 80% of patients older than 40 completed bilateral salpingo - oophorectomy. The mean age of patients undergoing bilateral mastectomy was 45 years, while the mean age of patients undergoing bilateral salpingo - oophorectomy was 47 years. Discussion: Women with genetic risk for breast Cancer require enhanced screening that includes annual MRI and mammography. The High - Risk Clinic provides Hereditary High Risk Women in BC with Diagnostic and prophylactic Services, and achieves rates of risk - reducing surgery comparable to those in literature. However, 53% of women attending the Clinic were older than 40 at their first visit and so may have missed the full benefit of risk reduction that might be achieved with earlier referral. In future, centralization of care in High - Risk Clinics and ongoing data collection should provide opportunity to evaluate new imaging modalities, long - term outcomes of risk - reducing surgery, and new risk - reducing strategies.

* 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

Genetic testing

Genetic Testing is a personal decision made for different reasons. It is also a complex decision best made after talking with your family, health care team, and Genetic Counselor. Personal or family history suggest genetic cause of CAncer. The test will clearly show specific genetic change. Results will help with diagnosis or management of condition. For example, you may take steps to lower your risk. Steps may include surgery, medication, frequent screening, or lifestyle changes. Asco also recommends genetic counseling before and after Genetic Testing. Learn more about these recommendations on Genetic Testing for CAncer susceptibility on separate ASCO website.

* 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

OVERVIEW

Genetic testing looks for specific inherited changes in persons genes. Genetic variants can have harmful, beneficial, neutral, or unknown or uncertain effects on the risk of developing diseases. Harmful variants in some genes are know to be associated with increased risk of developing cancer. These inherited variants are thought to contribute to about 5 to 10% of all cancers. Cancer can sometimes appear to run in families even if it is not caused by inherited variant.S For example, sharing the environment or lifestyle, such as tobacco use, can cause similar cancers to develop among family members. However, certain patterns that are seen in members of familysuch, as types of Cancer that develop, other non - Cancer conditions that are see, and ages at which Cancer typically developsmay suggest the presence of inherited susceptibility to Cancer. Genes involved in many known inherited cancer susceptibility syndromes have been identify. Testing whether someone carries harmful variant in one of these genes can confirm whether condition is, indeed, result of inherited syndrome. Genetic testing is also done to determine whether family members who have not developed Cancer have inherited the same variant as family members who are known to carry harmful variant. Different types of genetic testing, called Tumor DNA Sequencing, is sometimes done to determine if cancer cells of people who have already get cancer diagnosis have genetic changes that can be used to guide treatment. Although some of these cancer cell changes may be inherit, most occur randomly during a person's lifetime. Genetic testing of tumor cells is addrest in Tumor DNA Sequencing in Cancer Treatment page. No. Even if cancer susceptibility variant is present in the family, it does not necessarily mean that everyone who inherits the variant will develop cancer. Several factors influence whether a person with variant will actually develop Cancer. One is the penetrance of variant.S When not all people who carry variant go on to develop disease associated with that variant, it is said to have incomplete or reduced penetrance. Hereditary Cancer syndromes can also vary in their expressivity. That is, people who inherit variants may vary in the extent to which they show signs and symptoms of syndrome, including development of associated cancers. Lifestyle factors and environmental risks can also influence disease expression. More than 50 Hereditary Cancer syndromes have been describe; see PDQ Cancer Genetics Overview for a list of familial cancer susceptibility syndromes. Most of these are caused by harmful variants that are inherited in autosomal dominant fashion. That is, single altered copy of gene inherited from one parent is enough to increase a person's chance of developing cancer. For most of these syndromes, genetic tests for harmful variants are available. Tests are also available for several inherited genetic variants that are not associated with named syndromes but have been found to increase cancer 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

Risk factors for hereditary cancer

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

Other factors to consider

Breast cancer is the most common type of cancer in women in British Columbia. Breast cancer can occur in men as well, but it is not as common. Tests and treatments for breast cancer vary from person to person, and are based on individual circumstances. Certain factors such as your age, family history, or previous breast cancer diagnosis may increase your risk of developing breast cancer. For information about your specific risk factors, speak with your health care provider. A number of screening methods, including mammograms in women, can help find and diagnose breast cancer. The decision to have a mammogram or use any other screening method may be a difficult decision for some women. While screening for breast cancer is often recommended, it is not mandatory. Speak with your health care provider for information regarding how to get screen, facts and myths about screening tests, how to maintain your breast health, and to get help making an informed decision. For more information about breast cancer and breast cancer screening, visit: if you have questions about breast cancer or medications, speak with your health care provider or call 8 - 11 to speak with a registered nurse or pharmacist. Our nurses are available anytime, every day of year, and our pharmacists are available every night from 5: 00 pm to 9: 00 am

* 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

The BRCA1 and BRCA2 genes

All inherited traits are passed down through genes. Each person has two copies of every gene: one gene from each parent. Since each parent passes down exactly half of their genes to each child, any of parents ' genetic traits has a 50% chance of being passed on to their offspring. The name BRCA is an abbreviation for BReast CAncer gene. Brca1 and BRCA2 are two different genes that have been found to impact people's chances of developing BReast CAncer. Every human has both BRCA1 and BRCA2 genes. Despite what their names might suggest, BRCA genes do not cause BReast CAncer. In fact, these genes normally play a big role in preventing BReast CAncer. They help repair DNA breaks that can lead to CAncer and uncontrolled growth of tumors. Because of this, BRCA genes are know as tumor suppressor genes. However, in some people, these tumor suppression genes do not work properly. When a gene is altered or break, it doesnt function correctly. This is called gene mutation. A small percentage of people carry mutated BRCA1 or BRCA2 genes. Brca mutation occurs when DNA that makes up gene becomes damaged in some way. When BRCA genes mutate, they may no longer be effective at repairing broken DNA and helping to prevent BReast CAncer. Because of this, people with BRCA gene mutation are more likely to develop BReast CAncer, and more likely to develop CAncer at a younger age. Carrier of mutated gene can also pass gene mutation down to his or her offspring. It is estimated that one in eight women, or approximately 12%, will be diagnosed with BReast CAncer in her lifetime. However, women with certain genetic mutations have a higher lifetime risk of disease. It is estimated that 55 - 65% of women with BRCA1 mutation will develop BReast CAncer before age 70. Approximately 45% of women with BRCA2 mutation will develop BReast CAncer by age 70. Women with BRCA1 or BRCA2 mutation who overcome their BReast CAncer with treatment appear to have a higher - than - average chance of developing second CAncer. This is called recurrence. Cancers related to BRCA1 mutation are also more likely to be triple negative BReast CAncer, which can be more aggressive and difficult to treat. You may find these statistics alarming. However, it is important to note that less than 10% of women diagnosed with BReast CAncer have BRCA mutation. Also, with early detection, vast majority of BReast CAncer cases can be successfully treatedand that is true even for people who have BRCA1 or BRCA2 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

Testing for BRCA gene mutations

Brca1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring stability of each cell's genetic material. When either of these genes is mutate, or alter, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to Cancer. Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of female breast and ovarian cancers, but they have also been associated with increased risks of several additional types of cancer. People who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations. Harmful BRCA1 or BRCA2 mutation can be inherited from persons mother or father. Each child parent who carries a mutation in one of these genes has a 50% chance of inheriting the mutation. Effects of mutations in BRCA1 and BRCA2 are seen even when a person's second copy of the gene is normal. A woman's lifetime risk of developing breast and / or ovarian Cancer is greatly increased if she inherits harmful mutation in BRCA1 or BRCA2. Breast Cancer: About 12% of women in the general population will develop breast cancer sometime during their lives. By contrast, recent large studies estimate that about 72% of women who inherit harmful BRCA1 mutation and about 69% of women who inherit harmful BRCA2 mutation will develop breast cancer by the age of 80. Like women from the general population, those with harmful BRCA1 or BRCA2 mutations also have a high risk of developing new primary cancer in opposite breast in years following breast cancer diagnosis. It has been estimated that, by 20 years after first breast cancer diagnosis, about 40% of women who inherit harmful BRCA1 mutation and about 26% of women who inherit harmful BRCA2 mutation will develop cancer in their other breast. Ovarian Cancer: About 1. 3% of women in the general population will develop ovarian Cancer sometime during their lives. By contrast, it is estimated that about 44% of women who inherit harmful BRCA1 mutation and about 17% of women who inherit harmful BRCA2 mutation will develop ovarian Cancer by the age of 80. Harmful mutations in BRCA1 and BRCA2 increase the risk of several cancers in addition to breast and ovarian cancer. These include fallopian tube Cancer and peritoneal Cancer. Men with BRCA2 mutations, and to a lesser extent, BRCA1 mutations, are also at increased risk of breast cancer and prostate cancer. Both men and women with harmful BRCA1 or BRCA2 mutations are at increased risk of pancreatic Cancer.

* 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?

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

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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