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Brca1 And Brca2 Genetic Testing
Clarifying Q & A: In the general population, the incidence of a brca1 mutation is between 1:500 to 1:800. It is much lower for brca2. For a woman or offspring to inherit the gene from a parent who has one copy of the mutated gene, there is a 50% chance of acquiring the gene in question. It is autosomal dominant and therefore can manifest its deleterious consequences by itself without need of a second copy. ...Read more
Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more
Breast cancer genes: "BR" stands for breast "CA" stands for cancer In the mid-1990s, two genes were found that are changed in many families with breast cancer. The first gene found was named BRCA1 (BReast CAncer first gene found) and the second one was named BRCA2. The search for other genes continues. ...Read moreSee 1 more doctor answer
Yes: BRCA testing can be performed from either blood or saliva. A significant amount of DNA needs to be present for adequate testing so most companies require more than a finger stick blood draw. Usually a single blood tube containing 3 ccs of blood is adequate ...Read moreSee 2 more doctor answers
Yes: Brca1 and 2 mutation analysis is performed at myriad lab in usa. One can either use an oral swab or blood for testing. It is strongly recommended that the testing is done in the context of genetic counseling as the interpretation of the test and risk assessment for breast/ovarian cancer are complex and requires professional explanations. ...Read moreSee 1 more doctor answer
Depends: Many people have a distant relative who had breast cancer late in life and that is not an indication for brca testing. There are certain criteria like very young breast cancer, male breast cancer, triple negative breast cancer before age 60, and others. Visit your family doc or gyn to see if you need a referral to a genetics health professional for testing. ...Read moreSee 2 more doctor answers
Start w/affected pt: Pesonal and family risk factors assoc w/brca mutation: muliple fam members, bil breast cancer, male breast cancer, ovarian cancer, ashkenazi jewish heritage (specific founder mutations), diagnosis age <50 (dx age < 60 if er/pr/her2 - or triple negative). Both maternal and paternal history is important. ...Read moreSee 1 more doctor answer
Yes: Check with your rei specialist for details, but all ovum donors would be asked to report a detailed family history and would be tested for common recessive disorders, such as cystic fibroisis. Many programs would also request more extensive testing including a panel of 100 such recessive diseases, including such problems as spinal muscular atrophy, the askenazi jewish panel, fragile x, & more. ...Read moreSee 1 more doctor answer
Maybe: If in doubt go to a genetics counselor - most cancer centers have one. The consultation is not expensive, but the test itself is. They will ask about your age, the exact numbers of family members affected, their age at diagnosis, whether one or both breasts, their relationship to you (mother, sister, or daughter increase your personal risk), other cancers in the family. Then they can advise you. ...Read moreSee 1 more doctor answer
BRCA mutations: The majority of brca mutations are inherited from your mother or father. There are some which occur de novo(without inheritance). There is considerable information on the website for myriad- this is the company which has been doing the commercial testing in the usa. ...Read moreSee 1 more doctor answer
Good question. : The answer is no, a small number of patients with early onset breast cancer who carry a bad brca 1 or 2 mutation develop it "de novo", meaning that it started with them (after all, someone has to be the first to have it). Depending at which stage in development it happens, it may affect them to a different degree and may or may not be passed to their children. Some other cancer syndromes.. ...Read moreSee 1 more doctor answer
Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?
Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more
Yes: But most of them will require prior authorization. ...Read more
If a family member has ovarian cancer, can genetic screening determine if other family members will get the disease?
Yes: Ovarian cancer, especially pre-menopausal ovarian cancer is a rare disease and i recommend family members of such patients atleast have a genetics consultation to talk about testing. Brca-1 and brca-2 mutations put women at a much higher risk of developing ovarian, breast and endometrial cancers. More common in jewish women. Hnpcc (lynch syndrome) also increases the risks of female cancers. ...Read moreSee 1 more doctor answer
Very high risk: Patients who are brca positive have a very high risk of developing breast cancer. They can have an 80-90% risk (over lifetime) of developing 1 breast cancer, 50-65% chance of developing a 2nd breast cancer and a 40-50% risk of developing ovarian cancer. Please see this link for more details: http://www.Cancer.Gov/cancertopics/factsheet/risk/brca. ...Read moreSee 1 more doctor answer
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
This is a normal gene that makes a protein for basic cell functions. It was the second gene discovered that is often mutated in people at extra risk for breast cancer, and depending on the mutation these people often have increased risk of ovarian cancer as well. A person with a family history may be tested for the mutation and make ...Read more
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