Breast cancer is the second leading cause of cancer death in women. Mutation of certain genes favors the risk of breast cancer. It can be either somatic or germline mutation, and the latter type can pass on from one generation to the other. The genes predominantly include BRACA1(BReast CAncer gene one), BRCA2 (BReast CAncer gene two), and PALB2, each of which is related to increase seven-fold risk of breast cancer.
Also, mutation of the BRCA gene causes ovarian cancer, melanoma, and to some extent, pancreatic cancer. The function of these genes is to repair cell damage and keep breast, ovary, and other cells growing normally by producing tumor suppressor proteins. When it is mutated, it may no longer be effective at repairing broken DNA and helping to prevent breast cancer. A recent study has recommended that the genes which increase the risk of breast cancer in white American women also increases the risk in African-American women. The diagnosis of breast cancer in the U.S. women is made by the multi-gene panel testing, which looks for a mutation in the gene. So it will also be useful for black women since the genes are the same.
Researchers from Boston University collected samples from 5,054 African-American women with breast cancer and 4,993 age-matched samples from African-American women without cancer and analyzed their germline DNA sequence to find about the mutation of specific genes. They concluded that more than seven percent of women with breast cancer had a mutation in any one of the genes, as compared with two percent of the controls.
In breast cancer, we have two types, that is estrogen receptor-positive breast cancer and estrogen receptor-negative breast cancer. Estrogen receptor-positive indicates that the cancer cell may receive hormone signals that could promote their growth. This can be treated by drugs, which reduces the estrogen level or blocking the estrogen receptor. But, this is not useful for estrogen receptor-negative breast cancer, which is fast growing nowadays. Researchers also found that the mutation in PALB2, RAD51C, and RAD51D increased the risk of estrogen receptor-negative breast cancer in African-American women. They further added that there was a mutation in more than 10 percent of estrogen receptor-negative breast cancer when compared with five percent in estrogen-positive breast cancer.
Analyzing these genes helps to screen the women who are at high risk of breast cancer and also the women who are experiencing breast cancer. The results of the test may also indicate to remove the breast and ovaries of a woman at an early stage to prevent further damage.
The testing rate is lowered in African-American women with breast cancer than in white patients due to a discrepancy in the genetic mutation. The findings of this study can contribute to the best in African-American women who are offered to test.
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