BRCA 1 AND BRCA 2 TEST PRICE IN DELHI @12500/- ONLY
What is BRCA1 and BRCA2?
BRCA1 ((Breast Cancer gene 1) and BRCA2 (Breast Cancer gene 2) are proteins that help with DNA repair. Everyone carries two copies of each of these genes, one from each parent. BRCA1 and BRCA2 are sometimes referred to as tumor suppressor genes because certain changes, known as harmful (or pathogenic) variants (or mutations), can cause cancer.
People who inherit harmful variants in one of these genes have an increased risk of developing several cancers, most notably breast and ovarian cancer, but also a variety of other cancers. People who have inherited a harmful variant in BRCA1 or BRCA2 are also more likely to develop cancer at a younger age than those who do not.
How much does an inherited BRCA1 or BRCA2 harmful variant increase a woman’s risk of breast and ovarian cancer-
If a woman inherits a harmful variant in BRCA1 or BRCA2, her lifetime risk of developing breast and/or ovarian cancer is significantly increased, but the degree of increase varies depending on the mutation.
Breast cancer affects approximately 13% of women in the general population at some point in their lives (1). In contrast, 55%-72% of women who inherit a harmful BRCA1 variant will develop breast cancer by the age of 70-80, while 45%-69% of women who inherit a harmful BRCA2 variant will develop breast cancer by the age of 70-80. The risk for any given woman is determined by a number of factors, some of which are unknown.
Women with harmful BRCA1 or BRCA2 variants have an increased risk of developing cancer in the opposite (contralateral) breast in the years following a breast cancer diagnosis, just like women with breast cancer in general (2). The risk of contralateral breast cancer rises with time since the first diagnosis, reaching 20%-30% after 10 years and 40%-50% after 20 years, depending on the gene involved.
Ovarian cancer affects approximately 1.2% of women in the general population at some point in their lives (1). In comparison, 39%-44% of women who inherit a dangerous BRCA1 variant and 11%-17% of women who inherit a dangerous BRCA2 variant will develop ovarian cancer by the age of 70-80. (2–4).
Who should consider genetic counselling and BRCA1 and BRCA2 testing?
Anyone who is concerned about the possibility of having a harmful variant in the BRCA1 or BRCA2 gene should speak with their health care provider or a genetic counsellor.
There are tests available to determine whether a person has inherited a harmful variant in BRCA1 or BRCA2. However, testing for the general public is not currently recommended. Instead, expert groups advise focusing testing on those who are more likely to carry a harmful BRCA1 or BRCA2 variant, such as those with a family history of certain cancers. Testing is appropriate for both people who are cancer-free and those who have been diagnosed with cancer.
What do the results of the BRCA1 and BRCA2 genetic tests mean?
BRCA1 and BRCA2 mutation testing can produce one of three outcomes: a positive result, a negative result, or a variant of uncertain significance (VUS).
Positive outcome. A positive test result indicates that a person has inherited a known harmful variant in BRCA1 or BRCA2 (these are typically referred to on laboratory test reports as “pathogenic” or “likely pathogenic” variants) and is at an increased risk of developing certain cancers. A positive test result, on the other hand, cannot predict whether or not the tested individual will develop cancer. Some people who inherit a dangerous BRCA1 or BRCA2 variant do not develop cancer.
What do the results of the BRCA1 and BRCA2 genetic tests mean?
BRCA1 and BRCA2 mutation testing can produce one of three outcomes: a positive result, a negative result, or a variant of uncertain significance (VUS).
Positive outcome. A positive test result indicates that a person has inherited a known harmful variant in BRCA1 or BRCA2 (these are typically referred to on laboratory test reports as “pathogenic” or “likely pathogenic” variants) and is at an increased risk of developing certain cancers. A positive test result, on the other hand, cannot predict whether or not the tested individual will develop cancer. Some people who inherit a dangerous BRCA1 or BRCA2 variant do not develop cancer.
The outcome was negative. A negative test result can have several meanings depending on the person being tested’s personal and family medical history, as well as whether or not a harmful mutation has already been identified in the family. If the tested person has a close blood relative who carries a harmful BRCA1 or BRCA2 variant, a negative test result is obvious: it means the tested person did not inherit the harmful variant that is present in the family and cannot pass it on to their children.
It is unclear whether a negative test means that the person did not inherit a BRCA1 or BRCA2 mutation that is present in the family, or whether the family history is due to a mutation in another gene that was not tested, or to other, nongenetic risk factors.
The individual may have a harmful variant that current testing technologies cannot detect.
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