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Doctor insights on: Ataxia Telangiectasia Cancer

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Questions on ataxia telangiectasia causes?

Questions on ataxia telangiectasia causes?

Genetic: Ataxia telangiectasia is caused by a genetic mutation. It is transmitted in an autosomal recessive fashion. This means that for a child to get the disorder, they need to get one damaged chromosome from both parents. Because the parents only had one damaged chromosome, they are not affected; however, the child with two damaged chromosomes, will show signs of the disease. ...Read more

Dr. Barry Rosen
4,357 doctors shared insights

Cancer (Definition)

Cancer is a group of diseases that is characterized by uncontrolled cell growth leading to invasion of surrounding tissues that spread to other parts of the body. Cancer can begin anywhere in the body and is usually related to one or more genetic mutations that allow normal cells to become malignant by interfering with internal cellular control mechanisms, such as programmed cell death or by preventing ...Read more


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What treats ataxia telangiectasia!?

What treats ataxia telangiectasia!?

Symptomatic: Ataxia telangiectasia is a genetic condition with no cure. As such, therapy is directed at treating consequences of this disease. For example, it is best to avoid excess radiation (excess x-rays, ct scans) be wary of any signs of infection (due to immune compromise) and be vigilant about signs of malignancy (weight loss, night sweats, etc.). Physical therapy is also recommended for ataxia. ...Read more

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Is hemorrhagic telangiectasia (hht) a genetic disease?

Is hemorrhagic telangiectasia (hht) a genetic disease?

Yes: Hht is an autosomal dominant genetic disease with most cases arising in half of the children of an affected person. ...Read more

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Hereditary hemorrhagic telangiectasia (hht). It is a genetic disease?

Yes: Hht is a genetic condition that is transmitted in an autosomal dominant fashion (i.e. If a patient has hht, they have an affected parent). Occasionally, a new mutation may cause hht to develop. ...Read more

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What is hereditary non-polyposis colorectal cancer (hnpcc) vs familial adenomatous polyposis (fap)?

What is hereditary non-polyposis colorectal cancer (hnpcc) vs familial adenomatous polyposis (fap)?

Both inherited: In fap presents as colonic polyps ( gardners syn will have other tumors ) , autosomal recessive due to mutations in gate keeper, tumor suppres gene. On the contrary hnpcc or lynch syndrome. Is autosomal dominant, due to dna mismatch in repair, associated with other cancers of stomach, endomet. Ca, ovary, brain, skin etc. ...Read more

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What is hereditary hemorrhagic telangiectasia?

What is hereditary hemorrhagic telangiectasia?

History & Physical: Hht, or osler-weber-rendu syndrome, can be detected on physical examination with telangiectasia (red, lacy like, dilated blood vessels that blanch with pressure) over a patients oral mucosa (lips, cheeks, tongue) etc and on their skin. Patients may also have a history of recurrent nosebleeds and maybe even GI bleeding. ...Read more

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What are von hippel - lindau disease and lennox/gastaut syndrome.?

What are von hippel - lindau disease and lennox/gastaut syndrome.?

Syndromes: Von Hippel-Lindau syndrome is a genetic disorder that leads to the developement of many different types of tumors. Lennox Gastaut syndrome is a disorder in which the victim has many seizures. Both are severe, and a person with either one should have a doctor familiar with its treatment ...Read more

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Is bowel cancer hereditary?

Is bowel cancer hereditary?

Somehow yes: There is some genetic predisposition in families with hx. Of colorectal cancer. Diet also plays a rol ( low fiber diet increases cancer). Familiar poliposis increases chances of colon cancer. Colon polyps may degenerate in cancer. Small intestine cancers are rare and difficult to find. In general there are families affected by cancers and families affected by atherosclerosis but both together too. ...Read more

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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal dominant: Enter omim in your browser and go to the database of all inherited diseases. Autosomal dominant means that affected individuals have one normal and one abnormal gene copy, the abnormal one dominating to cause disease. An affected person has a 50% chance to pass on the abnormal gene and fap with each pregnancy. ...Read more

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How is familial adenomatous polyposis inherited?

How is familial adenomatous polyposis inherited?

Autosomal Dominant: Fap is inherited in an autosomal dominant fashion. This means that if one parent has the gene, and the other parent doesn't, each child has a 50% chance of receiving the gene for fap. The disease causes hundreds of polyps to form in the colon (see the picture), leading to colon cancer. ...Read more

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Is hutchinson's disease cancer?

Is hutchinson's disease cancer?

No: Hutchinson's disease is also known as sarcoidosis. This is a specific form of inflammation of the tissues in the body. Almsot any tissues can be affected, but the two most common organs affected are lungs and lymph nodes. The cause is not known. However, this is not considered a cancer. ...Read more

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What genes cause hereditary ovarian cancer?

What genes cause hereditary ovarian cancer?

BRCA 1 and 2: The breast-ovarian cancer (brca 1 and 2) genes are the only ones so far proven to cause susceptibility to ovarian cancer (as high as 50% lifetime risk for ovarian, 85% for breast cancer if you have a mutation. Other ovarian cancer susceptibility genes may be identified by ongoing research. ...Read more

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What causes von hippel lindau?

What causes von hippel lindau?

Genetic: Von hippel–lindau disease is a genetic condition caused by a mutation of the “von hippel-lindau tumor suppressor” gene on chromosome 3 .It is autosomal dominant. ...Read more

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For what reason colon part is usually prone to cancer in hnpcc (hereditary hereditary nonpolyposis colorectal cancer)?

For what reason colon part is usually prone to cancer in hnpcc (hereditary hereditary nonpolyposis colorectal cancer)?

Genetic disorder: Hnpcc also called lynch syndrome results from at least four type of genetic defects involving genes needed for repair of damaged dna. See this site for more info. http://ghr.nlm.nih.gov/condition/lynch-syndrome. ...Read more

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Is liver cancer hereditary?

Is liver cancer hereditary?

It can be: Many factors can increase one's risk for primary liver cancer including: chronic infection with hepatitis b or c virus, type 2 diabetes, nonalcoholic fatty liver disease, heavy alcohol use, obesity, exposure to certain toxins, and inherited liver diseases that can lead to cirrhosis such as hemochromatosis, wilson's disease, tyrosinemia, Alpha 1-antitrypsin deficiency, glycogen, and porphyria. ...Read more

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Is amyloidosis cancer?

Is amyloidosis cancer?

No, but just as: Serious. Amyloidosis is accumulation of an abnormal protein in various tissues. It also occurs in some cancers, e.g., multiple myeloma, a bone cancer. It affects the function of involved organs, e.g., liver, heart, kidney, etc. Amyloid also plays a role in the pathogenesis of alzheimer dementia. ...Read more

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Why is the colon prone to cancer in hnpcc (hereditary nonpolyposis colorectal cancer)?

Why is the colon prone to cancer in hnpcc (hereditary nonpolyposis colorectal cancer)?

Genetic mutations: HNPCC or hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic condition that has a high risk of colon cancer The disease first described by Lynch and is associated with other cancers including endometrial ovary and stomach. The increased risk is due to inherited mutations that impair DNA mismatch repair. .Individuals with HNPCC have an 80% lifetime risk for colon ca. ...Read more

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What type of genetic mutation causes breast cancer?

What type of genetic mutation causes breast cancer?

Many: If you inherit mutated brca1 or brca2 from a parent, your odds are greatly increased. All cancers arise from accumulated mutations and natural selection over your own lifetime, but these can actually be passed from parent to child. ...Read more

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Are blue nevus cancer causing?

Are blue nevus cancer causing?

Nevi are in and: Of themselves rarely precursors of cancer. The a, b, c, d &e acronym/mnemonic: asymmetry, border, color variation, diameter > 4mm, and evolution...Nice, but expert exam is better to determine risk and management. ...Read more

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Are breast cancer and leukemia hereditary?

Some : Some cases of breast cancer genetic mutations brca i and ii , her 2 some breast cancer run in families. In leukemias not enough proof of genetic mutations as in breast cancer ( I do not know ) how ever leukemias run in family members, especially cll and AML , may not be genetic, could be environmental. ...Read more

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Dr. Bernard Seif
195 doctors shared insights

Ataxia (Definition)

Ataxia means movements without coordination. People with ataxia have incoordination because the parts of the nervous system that control movement and balance are not working properly. Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. Ataxias may be hereditary ...Read more


Dr. Warren Foster
56 doctors shared insights

Loss Of Coordination (Definition)

Loss of coordination is a symptom in which some parts of a person's body should but do not work together in a coordinated way. One example is when several muscles move in an uncoordinated manner, ...Read more