Women With the BRCA Mutation Are at Great Risk of Cancer

Recent Study Finds BRCA1 and BRCA2 Gene Mutations to Be Particularly Dangerous

A recent large study of BRCA1 and BRCA2 gene mutations found that women who have inherited these mutations are at a significantly higher risk of cancer, particularly breast and ovarian, compared to women without the mutations.

Further Studies Announced

An announcement was also made recently by the Gray Foundation of New York about a $3.75 million grant to study how inactivation of the BRCA1 and BRCA2 genes along with other anomalies leads to cancer. In addition, the grant will allow for the study of the activation of BRCA-¬independent DNA repair. The grant will also be key to the study of how the acquisition of secondary mutations in BRCA-dependent DNA repair regulators may lead to cancer. The University of Texas Health Science Center at San Antonio is playing a leading role in the research together with the Dana-Farber Cancer Institute and the University of Pennsylvania.

Dr. Patrick Sung, the study’s principal investigator, emphasized the magnitude of these findings. Sung said: “We are talking about many millions of people being affected by mutations in BRCA1 and BRCA2 genes, so this is a really big deal.” The aim of the study is to continue investigating how these anomalies may lead to cancer.

Dr. Sung explained that BRCA1 and BRCA2 suppress the development of cancerous tumors and help prevent harmful lesions. However, the mutation of these genes can compromise their integrity and place the DNA under duress. This can cause cells to be threatened by phenomena such as cell division, which can result in the cells becoming malignant and causing cancer in the breasts and ovaries.
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Generous Backing for Vital Research

Dr. Sung serves as the Robert Welch Distinguished Chair in Biochemistry at UT Health. In 2019, he was recruited from Yale to work at UT Health and is now the lead researcher in the study of the BRCA1 and BRCA2 gene mutations with a particular focus on the role the genes play in repairing DNA. The Cancer Prevention and Research Institute of Texas provided $6 million in funding to help bring Dr. Sung to the University of Texas.

Establishing a Solid Foundation for Therapies

Dr. Sung is certain that the additional research will pave the way for medical professionals to develop improved cancer drugs and treatments. He asserts that it will also allow them to better educate women about the risk of cancer, how long drugs remain efficient, and the nature of drug resistance by the body.
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Around 12% of women around the world in general are likely to develop breast cancer, but between 69% and 72% of women who have inherited a BRCA mutation are likely to develop breast cancer. The development of ovarian cancer is similar. While approximately 1.3% of women overall are likely to develop ovarian cancer, BRCA mutations increase this possibility to between 17% and 44%.