Keyword: CHEK2
Relevance: Medium-High
Most relevant for: Jewish women with breast cancer who previously tested negative for the three most common BRCA mutations
Study: Does expanded genetic testing benefit Jewish women diagnosed with breast cancer?
BRCA1 and BRCA2 mutations are common in people of Eastern European (Ashkenazi) Jewish descent. About 2% of all Ashkenazi Jewish people will test positive for one of three common mutations in these genes. Genetic testing for Jewish people sometimes focuses on only the three most common mutations. For Jewish women with breast cancer, little is known about their chance of carrying a different hereditary mutation that may increase risk. This study looked at expanded genetic testing in Jewish women diagnosed with breast cancer to learn how often they carried mutations other than the three most common BRCA gene mutations found in Ashkenazi Jewish people. (09/13/17)
READ MORE ›
Relevance: Medium-High
Most relevant for: People who tested positive for one of the rare variants in CHEK2, ATM or PALB2 that are covered in this study
Study: Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk?
As multi-gene panel tests become more common, people are discovering they have mutations in genes that are not understood as well as BRCA. This can make it difficult to give patients accurate assessments of their cancer risk. For example, mutations in PALB2, CHEK2, and ATM are rare, but some specific changes in these genes are even less common. The goal of this international collaboration was to better understand the cancer risks of some very rare PALB2, CHEK2, and ATM mutations. The findings are relevant only to the specific mutations covered in this paper and do not apply to all people with mutations in PALB2, CHEK2, or ATM. (9/27/16)
READ MORE ›
Relevance: Medium
Most relevant for: Women at average risk for breast cancer
Study: Breast cancer risk model updated for average risk women with genetic, lifestyle and environmental information
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)
READ MORE ›
Relevance: Medium
Most relevant for: Breast cancer patients who have an inherited mutation and breast cancer patients who developed leukemia after treatment for breast cancer.
Study: Potential genetic basis for breast cancer survivors who develop therapy-related leukemia
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)
READ MORE ›