RESEARCH: CANCER
FOLDING PROJECT #19421 PROFILE

Breast cancer is a serious health threat with many causes. This project looks at how changes in the BRCA1 gene increase breast cancer risk. Researchers are studying a specific change, C61G, to see how it affects the protein's structure and function. The goal is to develop a drug that can fix this problem and prevent cancer.

Note: This TLDR is a simplication and may not be 100% accurate.

Breast cancer is a leading cause for cancer-related deaths in women around the world.

The disease can result from many different genetic mutations and exhibits a high degree of variability.

Furthermore, breast cancer is prone to metastasizing (spreading to other parts of the body) and therapeutic resistance.

Mutations in a protein known as BRCA1 are one of the hereditary risk factors for developing breast cancer.

Determining how these mutations disrupt common structural features is a key step in developing therapeutics to combat breast cancer.

Many single amino-acid substitutions in BRCA1 lead to increased risk of cancer, but it is unknown how these variants lead to loss of function.

The p194XX series of projects is dedicated to understanding how mutations in the N-terminal RING domain of BRCA1 lead to deleterious effects.

In p19421, we are simulating the mutant C61G BRCA1, which is a major hereditary risk factor and significantly alters the dynamics of the protein.

We hope that this knowledge can lead to a key strategy for developing a small molecule drug capable of “structure correcting” mutant BRCA1.

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Breast cancer

A malignant tumor originating in the breast tissue.

Breast cancer is a disease where abnormal cells grow uncontrollably in the tissues of the breast. It's a common type of cancer that affects women worldwide and can be caused by genetic mutations or other factors.

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Mutations

Permanent alterations in the DNA sequence.

Mutations are changes that happen to the DNA code within our cells. These changes can be small or large and can affect how our genes work. Some mutations are harmless, while others can cause diseases like cancer.

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Metastasizing

The spread of cancer cells from the primary tumor to other parts of the body.

Metastasis is when cancer cells break away from the original tumor and travel through the bloodstream or lymphatic system to other organs in the body. This can lead to new tumors forming in different locations.

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BRCA1

Breast Cancer Antigen 1

BRCA1 is a gene that helps repair damaged DNA. Inherited mutations in this gene can significantly increase the risk of developing breast and ovarian cancer.

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Protein

A large biomolecule composed of amino acids.

Proteins are essential molecules that perform a wide variety of functions in living organisms. They are involved in everything from building and repairing tissues to catalyzing chemical reactions.

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Amino-acid

The building blocks of proteins.

Amino acids are organic compounds that link together to form proteins. There are 20 different amino acids that are commonly found in proteins.

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Therapeutic

Relating to the treatment of disease.

Therapeutic refers to anything that is used to treat or manage a disease. This includes medications, therapies, and medical devices.

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Structure correcting

A strategy to modify the shape of a protein to restore its function.

Structure correcting is a technique used in drug development to try and fix the shape of proteins that have been damaged by mutations. This can help restore their normal function and potentially treat diseases.