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Doctor insights on: Positive Brca Gene

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Is factor 7 gene mutation (heterozygote) thrombophila?

Is factor 7 gene mutation (heterozygote) thrombophila?

No: Factor 7 mutation is very rare and causes increased risk of bleeding (not being able to clot). Factor 5 deficiency is the most common form of thrombophilia (increased risk of abnormal clotting). ...Read more

Genetic (Definition)

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


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Gene expression profiling predicts clinical outcome of breast cancer?

Gene expression profiling predicts clinical outcome of breast cancer?

We're Getting There: In the past, we used anatomic staging alone (tumor size, lymph node involvement) to guide rx. Gene profiling allows us a completely separate measure of prognosis, and, more importantly, can predict who may or may not benefit from different chemotherapy agents. In the future, we will hopefully be able to tailor our rx to the specific cancer being treated: the elusive personalized medicine. ...Read more

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What percent of women inherit a brca1 or brca2 gene?

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

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Is hemophilia a gene mutation?

Yes: Both hemophilia a and b are due to mutations in genes on the x chromosome. ...Read more

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Cause of a positive monoclonal T cell beta gene rearrangement?

Cause of a positive monoclonal T cell beta gene rearrangement?

Tumor: Monoclonal proliferation of lymphoid cells is usually an indication of tumor of the lymphoid tissue. ...Read more

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Does mthfr heterozygous c677t mutation affect pregnancy?

Likely not much: The existing evidence does not support any strong connection between heterozygotes for either the c or a mutations of mthfr and poor pregnancy outcomes. Homozygotes may well be at greater risk. Depending on clinical history, different levels or surveillance and possible intervention can be considered. ...Read more

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Can you tell me, are all brca gene mutations hereditary?

Can you tell me, are all brca gene mutations hereditary?

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 more

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My 34yr sister had brca1and2 testing.Her brca 2 sequencing back positive as "likely pathogenic".What does that mean?Negative for brca 1 sequenc/depdup

My 34yr sister had brca1and2 testing.Her brca 2 sequencing back positive as "likely pathogenic".What does that mean?Negative for brca 1 sequenc/depdup

Genetic counseling: Brca mutations lead to high risks for breast and ovarian cancer, a genetic counselor can assist with explanations of the testing and implications. ...Read more

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Hiv RNA qualitative test negative; but absolute CD4 helper-879;% CD4 pos. Lymph-31.4;abs.Cd8 suppressor-1204;% cd8 pos lymph-43.0;cd4:cd8 ratio-0.73?

Hiv RNA qualitative test negative; but absolute CD4 helper-879;% CD4 pos. Lymph-31.4;abs.Cd8 suppressor-1204;% cd8 pos lymph-43.0;cd4:cd8 ratio-0.73?

I wouldn't worry: Cd4 normally runs around 500-1000. Cd8 usually runs 150-1000 or so, but these ranges are set so that several percent of healthies fall outside. I'm not worried; you can repeat the RNA if you mistrust the lab. In healthy folks, the values vary chaotically. I had burning mouth for weeks after coxsackie herpangina and a viral infection may have through your cells out of kilter briefly. ...Read more

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Ana screen, ifa positive a (negative) means?

Ana screen, ifa positive a  (negative)   means?

Nothing by itself: One person in four tests positive. The vast majority of these people have no problems. The clinical picture is key, and how high the titer is may be helpful. ...Read more

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Who needs apc genetic testing?

Who needs apc genetic testing?

History of polyps: General indications for APC gene testing include patients who themselves have had 10 or more adenomas or have had a desmoid tumor, or patients who have a family member with an APC gene mutation found on genetic testing. ...Read more

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Hla gene mutations predispose one to developing autoimmunity after viral &/or vaccine exposure...Why not screen for mutations before vaccinating us?

Vaccine-preventable : Infections trigger clinical symptoms of auto-immune disorders far more often & more severely than do vaccines. The who's criteria for assessing adverse reactions to vaccines, including autoimmune diseases, are the consistency, strength & specificity of an association, not just a temporal relationship. Image.Thelancet.Com/.../02art9340web.Pdf discusses current & future epidemiology ...Read more

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Could anybody get the mthfr-a1298c gene mutation?

Depends: The MTHFR 1298 mutation is not uncommon, but for any given individual to have the possibility of having it, one or both of their parents must have it. ...Read more

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How do a gene mutation and a chromosomal mutation differ?

How do a gene mutation and a chromosomal mutation differ?

Mutations: A chromosome will contain many genes, so a chromosome mutation will effect many genes. A gene mutation will have an effect only on that gene. ...Read more

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If report reads: estrogen reactor weakly positive, progesterone negative, her2 negative &invasive ductal carcinoma. Is this a triple negative cancer?

If report reads: estrogen reactor weakly positive, progesterone negative, her2 negative &invasive ductal carcinoma. Is this a triple negative cancer?

Even a weak ER+: Makes this better prognosis, and depending on other factors (oncotype, size, nodes) invite the use of tamoxifen or Arimidex (anastrozole) or Letrozole after chemo. All triple negative is not the same. Best wishes. ...Read more

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Gene (Definition)

A hereditary unit consisting of a sequence of dna that occupies a specific location on a chromosome and determines a particular characteristic in an organism. Genes undergo mutation when their ...Read more


Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more