Keyword: BRCA1

Study : Early research on a drug to prevent breast cancer

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

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Most relevant for: Women with a BRCA1 mutation

Many researchers are interested in non-surgical options to reduce the higher-than-average risk of developing breast cancer in BRCA mutation carriers. This research study identified a type of drug, called a “RANK ligand inhibitor,” that may prevent breast cancer. Among mice that were genetically engineered to have no BRCA1 genes, those that were given the drug developed tumors less frequently than those that did not. While this is an exciting early study for BRCA mutation carriers, more work and human clinical trials need to be done before this can be used as a prevention therapy in humans. (7/12/16)

Update added 11/24/19: The RANK ligand inhibitor, denosumab is currently being studied as a possible breast and ovarian cancer preventive agent in human clinical trials.

Study : Breast cancer risk model updated for average risk women with genetic, lifestyle and environmental information

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

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Most relevant for: Women at average risk for breast cancer

A number of factors are known to increase breast cancer risk, but some of these factors have not been included in models to predict breast cancer risk. This study looks at an updated model that includes some of these factors, such as genetics, smoking, and drinking. The goal of the model is to give women a more individualized breast cancer risk assessment. (6/29/16)

Study : Dense breast notifications are informative but hard to read and understand

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: Women with dense breast tissue on mammograms

Some states offer women dense breast notifications that are meant to explain that dense breasts are risk factors for breast cancer and can hide cancer on mammograms, and to identify appropriate supplemental screening options. But recent research found that this information is often not easy to read or understand, which questions the usefulness of the documents. (6/7/16)

Study : Do BRCA mutations affect fertility?

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

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Most relevant for: Women with a BRCA mutation who want to become pregnant

Age affects fertility. As women age, their ovaries release eggs that are not as healthy as those released in younger women. Fewer eggs are released each menstrual cycle as women age, making it harder for older women to become pregnant. Are women with BRCA mutations less fertile? Previous research suggested that BRCA mutations might affect women's fertility as she ages. A recent study found that BRCA1 mutation carriers may have slightly lower fertility than women without the same mutation, but more research is needed before this finding is useful for medical decision-making. (5/24/16)

Study : Is breast cancer risk increased in women who test negative for the BRCA mutation in their family?

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

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Most relevant for: Women from a family with a known BRCA mutation who tested negative for the mutation in the family

Some women who do not carry a BRCA mutation, but come from a BRCA-positive family, still develop breast cancer. This research examines whether these women are at higher risk for breast cancer, or whether their risk is similar to women in the general population. (4/19/16)

Study : BRCA testing in young women with breast cancer

Relevance: Medium-High

Strength of Science: High

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Most relevant for: Young women diagnosed with breast cancer who have not yet had genetic testing

National guidelines recommend genetic testing for BRCA mutations in young women who are diagnosed with breast cancer. However, little is known about how women decide to get testing, or how they use genetic information to decide on treatment options. This study found that genetic testing is increasing among young breast cancer survivors, and it explores some of the factors that play into patients’ decision making about genetic testing. (3/22/16)

Study : What are the genetics underlying 12 different cancer types?

Relevance: Medium

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People diagnosed with cancer

As gene sequencing has become more affordable, researchers and health care providers are now looking for mutations in many genes beyond BRCA1, BRCA2 and others that are associated with known hereditary cancer syndromes. By sequencing thousands of genes rather than just one or two, researchers can better understand which inherited mutations affect cancer risk. In this study, researchers sequenced thousands of genes in patients with one of 12 cancers, including breast, and catalogued which gene mutations are most commonly found in each cancer. (03/01/16)

Study : Potential genetic basis for breast cancer survivors who develop therapy-related leukemia

Relevance: Medium

Strength of Science: Medium

Research Timeline: Human Research

Most relevant for: Breast cancer patients who have an inherited mutation and breast cancer patients who developed leukemia after treatment for breast cancer.

The population of breast cancer survivors in the United States is increasing. One rare but dangerous long-term effect of breast cancer treatment is an increased risk of leukemia, a type of bone marrow cancer. A recent study uncovered a potential genetic basis for this condition. (01/26/2015)

Study : Study uses mice and brains from deceased Alzheimer’s patients to assess BRCA1 involvement

Relevance: Low

Strength of Science: Medium

Research Timeline: Animal Studies

Most relevant for: This research is not relevant to people

Researchers noted reduced levels of BRCA1 protein in the brains of mice and deceased Alzheimer's patients. While this study is interesting early work on the biology of Alzheimer's disease, the focus was primarily Alzheimer's disease, rather than the effect of BRCA1 mutations on Alzheimer's. Therefore, this study's observation may be something that is seen in Alzheimer's patients, but does not necessarily cause the disease. No studies suggest that BRCA1 mutation carriers are at increased risk for Alzheimer's disease. (12/22/2015)

Study : How many children with cancer have mutations in genes that increase cancer risk?

Relevance: Medium

Strength of Science: Medium-High

Research Timeline: Human Research

Most relevant for: Survivors of childhood cancer and people with a family history of relatives diagnosed with childhood cancers

Many genes are associated with increased cancer risk in adults, but it is unclear how common these mutations are in children with cancer. This study found that about 9% of children with cancer carry mutations in a gene that is known to increase cancer risk. Over half of the mutations were in the TP53 gene, which is associated with increased cancer risk at a young age and increased risk of breast cancer in adults. (12/15/2015)