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Transcript
Test for hereditary breast and ovarian cancer Know the risk of developing it Nearly 12% of women will suffer from breast cancer during their lives Approximately 1.3% of women will suffer from ovarian cancer during their lives What is hereditary breast cancer? Breast cancer is the most common type of cancer in women, and it is estimated to be hereditary in 5%-10% of the cases What genes are involved in the hereditary breast and ovarian cancer? The majority of hereditary breast and ovarian cancers are associated with DNA changes in the BRCA1 and BRCA2 genes. These alterations or mutations confer their carriers a higher predisposition of suffering from breast and ovarian cancer. What is the function of the BRCA1 and BRCA2 genes? The BRCA1 and BRCA2 genes produce tumour suppression proteins. These proteins are important in ensuring the stability of the genetic material in the cell. If there is a mutation in one of these genes, the protein is not produced properly, and the cells have a higher probability of presenting genetic alterations that could lead to cancer. In numbers Mutations in the BRCA1 and BRCA2 genes cause the development of hereditary breast and ovarian cancers earlier than non-hereditary cancers. It represents nearly 25% of hereditary breast cancers Mutations in the BRCA1 and BRCA2 genes Nearly 10% of all breast cancers It represents 15% of ovarian cancers in general What probability do I have of inheriting a mutation in BRCA1 or BRCA2 genes? 50% A mutation in the BRCA1 or BRCA2 genes can be inherited either from the mother or from the father. Every child in a family whose any of his parents carry a mutation in one of these two genes, has a 50% chance of inheriting the mutation. FATHER DAUGHTER SON MOTHER How much does the risk of suffering breast or ovarian cancer increase with a genetic mutation? The risk of a woman suffering breast or ovarian cancer increases considerably if she inherits a mutation in either of BRCA1 or BRCA2 genes. Breast cancer Nearly 12% of women in the general population will suffer from breast cancer during their lives. However, between 55-65% of women who inherit a BRCA1 mutation and 45% of women who inherit a BRCA2 mutation will suffer breast cancer at some point in their lives. Ovarian cancer Nearly 1.3% of women in the general population will suffer ovarian cancer. Nevertheless, 39% of women who inherit a BRCA1 mutation and 11-17% of women who inherit a BRCA2 mutation will suffer from ovarian cancer. PROBABILITY OF DEVELOPING CANCER With BRCA1 and BRCA2 mutation Without BRCA1 and BRCA2 mutation Breast cancer 55-65% 12% Ovarian cancer 39% 1,3% Should I undergo genetic testing for hereditary breast and ovarian cancer? Some of the factors that lead to prescribe this genetic test are: Women who have several family members with breast, ovarian, fallopian tube or peritoneal cancer. Women with breast cancer diagnosed before being 50 years of age. Women with bilateral breast cancer. Women with multiple breast cancers. Men with breast cancer. How is the test performed? Currently, the test recommended by the International Medical Organizations is a double strand DNA sequencing of the BRCA1 and BRCA2 genes, and the screening of big DNA deletions in both genes using a technique called MLPA [Multiplex ligation-dependent probe amplification]. Imegen addresses the high-throughput DNA sequencing with our own validated platform (NextGeneDx) that let us to obtain 100% of the DNA sequences of all the BRCA1 and BRCA2 exons and of their adjacent intronic regions. This technique give us more than 100X read depth levels and a coverage of 100% for all the exons. The sequencing results are analysed bioinformatically using specific databases (BIC, NCBI, LOVD, HGMD) and our own pipelines, which also allows us to generate reports with clinical utility for the healthcare provider. What does a result mean if it is... + - Positive Negative A positive result for this test indicates that the patient has inherited a mutation in the BRCA1 or BRCA2 genes, and therefore she has a higher risk of suffering from breast and ovarian cancer. The risk in women carrying mutations increases between 3 and 7 times in comparison to women who do not have any mutation. However, it is important to note that a positive result does not always mean that the patient will develop cancer in 100% of the cases, neither it determine when she will suffer it. A negative result for this test means that the person does not have a pathogenic mutation in none of the two genes and therefore they will no transmit it to their offspring. This person will have the same risk of developing breast and ovarian cancer as anyone in the general population. Biological children of a person (male or female) who has a mutation in one of these two genes will have a 50% chance of inheriting the mutation, independently of whether or not their parents end up developing cancer. If the person who undergo the test has a positive familiar history that suggests the possibility of having a hereditary genetic mutation, but the complete genetic test dhas not identified any mutation in the BRCA1 and BRCA2 genes in the family, a negative result is less clear. It is possible that they carry a mutation in another gene different to BRCA1 and BRCA2. Genetic counselling is recommended before and after performing any genetic test The importance of Genetic Counselling At Imegen, we have medical genetics experts that will help you to understand the process and the importance of the information you will obtain from the test. At our pre- and post-test consultation, we will address the following points: Personalised assessment of the risk of developing hereditary cancer Individual medical genetic study to determine why the test is appropriate in your situation The medical implications of a positive and negative result The possibility of having a non-informative result The psychological risks and benefits of the genetic test results The risk of transmitting a mutation to your children An explanation of the specific test at a technical level CONFIDENCE IN IMEGEN We are experts in medical genetics. Specialists in services and products for genetic analysis. 20 years helping to improve people's quality of life. Presence in 23 countries. International coverage C/ Agustín Escardino 9, Parc Científic de la Universitat de València 46980 Paterna · Valencia, Spain [email protected] www.imegen.es Call us at +34 900 800 805 We will help you answer all your questions