Question 1

what causes a braf mutation in melanoma patients?  is it uv or is it family genetics?

Accepted Answer

Acquired: Mutated BRAF is acquired, not passed from the parents.

Question 2

what is the egfr mutation test? what does its score imply?

Accepted Answer

No such thing: There's an unproven test for one's MTHFR (a folic acid metabolism enzyme) genotype. A majority of people who pay to have it done will be told they have a health problem and the lab will then offer them certain special nutritional supplements. Most pathologists do not believe in this; I'm open-minded but not yet persuaded.

Question 3

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 4

my husband is diagnosed with poorly differentiated adenocarcinoma of the right lung with alk & egfr mutations; stage 3b what is the prognosis and life?

Accepted Answer

Fair: It is extremely unusual to have both mutations.  They are mutually exclusive.  Patients that do carry one of these mutations are eligible for various medications that target these mutations.
Crizonitib for alk and tarceva (erlotinib) for egfr and new agent recently to the market.  These new finding have improved the prognosis.  Other factors do enter in.  Age, ps, smoking history if any, wt. Loss, etc.

Question 5

what mutation causes haemochromatosis?

Accepted Answer

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info.

http://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis

Question 6

how are sunburns and mutations related?

Accepted Answer

Sunburns and mutatio: The ultraviolet light from the sun can affect the DNA in the skin cells.

Question 7

how do cell mutations happen in fetuses?

Accepted Answer

At conception.: At conception the maternal egg or the paternal sperm cell may carry mutations that are passed on to the fetus.

Question 8

what type of mutation causes hemophilia?

Accepted Answer

Hemophilia: A mutation on the x chromosome that affects the blood clotting factors viii or ix.

Question 9

what type of mutation causes thalassemia?

Accepted Answer

Hemoglobin: formation is affected in thalassemia.  Mutation in one or both of  the genes responsible for the production of hemoglobin proteins (alpha and beta globin) lead to decreased production of these proteins, decreased hemoglobin formation and resulting anemia.

Question 10

what type of mutation causes barth syndrome?

Accepted Answer

X-linked mutation: Barth syndrome, also known as 3-methylglutaconic aciduria type II (MGCA2), is caused by mutation in the tafazzin gene (TAZ) on chromosome Xq28. Each boy born to a carrier mother has a 50% chance of having it. Each daughter of a carrier mother has a 50% chance of being a carrier. All daughters of men with Barth Syndrome are carriers. 
https://www.barthsyndrome.org/home has information &amp; resources.

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Doctor answers about:

Egfr genetc mutation

A member asked:

What causes a braf mutation in melanoma patients? is it uv or is it family genetics?

A member asked:

What is the egfr mutation test? what does its score imply?

A member asked:

Does asbestos cause egfr exon 21 mutation?

A member asked:

My husband is diagnosed with poorly differentiated adenocarcinoma of the right lung with alk & egfr mutations; stage 3b what is the prognosis and life?

A member asked:

What mutation causes haemochromatosis?

A member asked:

How are sunburns and mutations related?

A member asked:

How do cell mutations happen in fetuses?

A member asked:

What type of mutation causes hemophilia?

A member asked:

What type of mutation causes thalassemia?

A member asked:

What type of mutation causes barth syndrome?

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