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Doctor insights on: What Kind Of Mutation Is Present In The Brca1 Gene In The Breast Cancer Families

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What kind of mutation is present in the brca1 gene in the breast cancer families?

What kind of mutation is present in the brca1 gene in the breast cancer families?

Loss of function: Brca 1 and 2 genes encode proteins than normally repair our dna. When the genes are mutated, the protein they normally make does not work correctly, leading to loss of the ability to fix other dna mutaions, and development of tumors. ...Read more

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Dr. Barry Rosen
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Breast Cancer (Female) (Definition)

Breast cancer results when glandular cells lining the milk ducts and lobules of the human breast begin to grow in an unregulated manner. The growth occurs initially inside the ducts but eventually breaks outside into the breast tissue and ultimately spreads both to the lymph nodes in the armpit and via the bloodstream to other parts of the body. Because of the promoting affect of estrogen almost all breast cancer occurs in women and is a rarity in men. The unregulated growth is due to both inherited and acquired genetic defects. It is the most common malignancy in women but it often curable if found early and treated effectively with surgery, hormonal therapy, chemotherapy and targeted therapy, or a combination thereof. Early detection before the malignancy becomes large enough to be felt depends on mammography/sonography and MRI imaging of the breast on an annual basis. ...Read more


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Whats cause and effect of brca1 gene on breast cancer?

Whats cause and effect of brca1 gene on breast cancer?

Genetic mutation: Genetic mutation in long arm of chromosome 17 in brca 1 , in 13 brca 2, instead of normal protective proteins which control abnormal growth of cell , repair broken down dna, maintain genetic stability, the abnormal proteins fail to protect, and responsible for 40% inherited breast cancers, 80% of breast & ovarian cancers. ...Read more

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I was told that if someone was treated for breast cancer 20yrs ago with tamoxifen, that they did not carry the BRCA1 & BRCA2 mutations? Is this true?

I was told that if someone was treated for breast cancer 20yrs ago with tamoxifen, that they did not carry the BRCA1 & BRCA2 mutations? Is this true?

BRCA test was not av: BRCA test is not often done, unless there is strong family history of breast Cancer in multiple members. This test was not available 20 years back, so it would not have been done. But it is not to be done except in selected cases where we suspect it may be abnormal. ...Read more

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About the brca-1 gene (breast cancer gene)...If a male is a carrier for the gene what will happen to his daughters?

About the brca-1 gene (breast cancer gene)...If a male is a carrier for the gene what will happen to his daughters?

50:50 inheritance: Any child of a brca carrier has a 50:50 chance of inheriting that mutation. If they have inherited the mutation, they have a 50-80% chance of developing breast cancer, and an increeased risk of several other cancers. For more information, check this link: http://www.Cancer.Gov/cancertopics/factsheet/risk/brca. ...Read more

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Which type of genetic mutation can cause breast cancer?

Which type of genetic mutation can cause breast cancer?

BRCA: The most commonly described genetic mutations associated with family history include brca1 and brca2 gene mutations. There are several other familial cancer syndromes though, and can be related to other genes such as p53 (li fraumeni syndrome) and pten (cowden's disease). Hereditary genetic syndromes as a whole are rare and comprise only about 10% of patients who have breast cancer. ...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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Is breast cancer caused by a mutation in the gene or by a problem with the gene expression?

Is breast cancer caused by a mutation in the gene or by a problem with the gene expression?

Gene mutation: If not a genetically inherited , environmental conditions initiate the induction of the breast lesion. The most common mutation occurs with the long terminal repeat of the MMTV virus enters the Wnt-1 gene. This produces an over expression of B-catenin which results in transformation. EBV infection probably needed for FGARAT production that acts to overexpress telomerase inducing immortality. ...Read more

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I have extra genetic mutations for breast cancer & heart failure What's the likelihood that these genes will turn on & can I use diet to keep them off?

I have extra genetic mutations for breast cancer & heart failure What's the likelihood that these genes will turn on & can I use diet to keep them off?

Complex genetics: Recommendations on gene mutations are best given by a medical geneticist, who needs a detailed understanding of the exact test that you had done and the detailed results. Many gene mutations cause a loss of function so you don't necessarily want to turn off the mutated gene. Modern genetics is discovering many genetic markers that convey only small risk of disease, and may require no treatment. ...Read more

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36 year-old woman whose mother was diagnosed with breast cancer at age 34 and a PALB2 mutation wonders if mastectomy is needed to lower her risk.....?

36 year-old woman whose mother was diagnosed with breast cancer at age 34 and a PALB2 mutation wonders if mastectomy is needed to lower her risk.....?

You need testing: If your mother was a BRCA carrier then it is important that you get tested. Since you know that she has a PLAB2 mutation then your testing can even be more precise. If you are a carrier then see an experienced breast surgeon. They can calculate your lifetime risk as well as your 5 year risk to help you make your decisions regarding mastectomy and ovary removal ...Read more

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How are brca1 and brca2 related to the development of breast cancer?

How are brca1 and brca2 related to the development of breast cancer?

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 more

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Dr. Barry Rosen
4,214 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


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