Question 1

does asbestos cause egfr exon 21 mutation?

Accepted Answer

Asbestos: There are studies that show an association between occupational asbestos exposure and EGFR mutations.  This does not mean that one causes the other, and any individual case should be discussed with a doctor.

Question 2

can exon skipping or stem cell therapy helpful in duchccne muscular dystrophy?

Accepted Answer

Perhaps in future: Unfortunately, not available yet, but muscular dystrophy association is well financed thanks to jerry lewis, and research is advancing steadily.  Stay tuned.

Question 3

polycythemia with jak2 exon 14 and 12 negative,bone marrow biopsy shows erythroid hyperplasia, erythropoietin 16. stomach and cheat scan normal ,mild sleep apnea.
please advise is this primary or secondary polychethemia?

Accepted Answer

: Need a lot more information to determine. Regardless, this site is inappropriate to make such judgments. See a Hematologist

Question 4

can you have both brac mutation, one and two  , and if so what is the risk for cancer than ?

Accepted Answer

Yes: You can indeed. Such individuals have been discovered by chance and reported but no one has a large series yet. No one has looked at these people, but the risk is probably somewhat higher than in those who carry only one.

Question 5

i have mthfr 2 mutations, i had 3 miscarriages one 2nd trimeste loss chances of this causing them?

Accepted Answer

Maybe: The only way to know this would be to prove that the cause of the pregnancy loss was clotting which interrupted blood flow to the fetus.  This can only be known by autopsy of the fetus.  It does sound suspicious, and you may want to be sure you have been tested for all forms of excess blood coagulation.  2nd trimester loss is less consistent with a clot.

Question 6

can one's dna change during life? does that mean that different cells in my body might currently have mutations from one another?

Accepted Answer

DNA does not change: No. Cells can change; they can get damaged; they can be affected by their environment. But, the underlying DNA does not change or mutate.

Question 7

am 28y and my first baby is down , its bciz random mutation what the chance to have another one with down ?!

Accepted Answer

About 1% added : The basic of a trisomy 21 ds varies with age, being 1/800 at 30-34, 1/270 at 35-40.A previous ds birth adds 1% if it was a traditional trisomy 21 ds . A discussion with a geneticist affiliated with a med school or kids hospital could provide with all your risk factors in detail.

Question 8

please tell me, could someone carry more than one type of genetic mutation?

Accepted Answer

Yes: Yes, you can have more than one genetic mutation. Most mutations do not cause significant or even visible problems. However you can have multiple serious genetic mutations.

Question 9

need expert help. can someone carry more than one type of genetic mutation?

Accepted Answer

Yes: The draft sequence of the human genome project has suggested that we may all be carriers of 4-10 different disorders.  Individuals can have a variety of genetic alterations within single genes, multiple genes and in non-coding areas of the genome.  Some disorders are a consequences of having different genetic mutations that result in loss of genetic function resulting in disease

Question 10

why is genetic mutations test done for pancreatitis patient? my case is idiopathic one will it help.!

Accepted Answer

Genetic tendency: There are genes that can be inherited from a parent that contribute to chronic pancreatitis, and some cases of idiopathic (of unknown cause) pancreatitis have turned out to be related to the presence of these genes.

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Doctor answers about:

Msh6 mutation, one exon

A member asked:

Does asbestos cause egfr exon 21 mutation?

A member asked:

Can exon skipping or stem cell therapy helpful in duchccne muscular dystrophy?

A member asked:

Polycythemia with jak2 exon 14 and 12 negative,bone marrow biopsy shows erythroid hyperplasia, erythropoietin 16. stomach and cheat scan normal ,mild sleep apnea. please advise is this primary or secondary polychethemia?

A member asked:

Can you have both brac mutation, one and two , and if so what is the risk for cancer than ?

A member asked:

I have mthfr 2 mutations, i had 3 miscarriages one 2nd trimeste loss chances of this causing them?

A member asked:

Can one's dna change during life? does that mean that different cells in my body might currently have mutations from one another?

A member asked:

Am 28y and my first baby is down , its bciz random mutation what the chance to have another one with down ?!

A member asked:

Please tell me, could someone carry more than one type of genetic mutation?

A member asked:

Need expert help. can someone carry more than one type of genetic mutation?

A member asked:

Why is genetic mutations test done for pancreatitis patient? my case is idiopathic one will it help.!

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