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Breast cancer gene mutations same in Black and White women

The genetic mutations that can increase breast cancer risk are the same for both Black and white women, which means that currently available genetic tests are effective for Black women.

Three of the most well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1, BRCA2, and PALB2. Women who inherit a harmful mutation, or abnormal change, in any of these genes — from their mothers or their fathers — have a much higher-than-average risk of developing breast cancer and/or ovarian cancer.

The function of the BRCA and PALB2 genes is to keep breast cells growing normally and prevent any cancer cell growth. But when these genes contain mutations that are passed from generation to generation, they do not function normally and breast cancer risk increases.

Earlier studies looking at the genetic mutations linked to a higher risk of breast cancer included mainly white women, so it has been unclear if the same genetic mutations increased breast cancer risk by the same amount in Black women.

A new study of 5,054 Black women who had been diagnosed with breast cancer and 4,993 Black women of the same ages who had not been diagnosed with breast cancer found that mutations in the BRCA1, BRCA2, and PALB2 genes were linked to a high risk of breast cancer.

This means that the genetic tests currently available to test women diagnosed with breast cancer or women at high risk due to their family history will be useful for African American women,” said researcher Julie Palmer of the Boston University School of Medicine.

See “Genetic Mutations Linked to Higher Breast Cancer Risk Are the Same for Black, White Women” by Jamie DePolo on the Breastcancer.org website (June 2, 2020)

See the abstract of the scientific paper “Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women” by Julie R. Palmer et al.

 

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