Keyword: PALB2
Relevance: Medium
Most relevant for: People interested in genetic testing for an inherited mutation
Study: Angelina Jolie spoke out on BRCA testing: Did genetic testing increase?
Angelina Jolie published an editorial in the New York Times in 2013 about her choice to have a double mastectomy after finding out she was positive for a BRCA1 mutation. Researchers from a recent study claim that her celebrity endorsement of BRCA testing may have missed its target audience (previvors), due to the increase in BRCA testing following publication of the editorial but a decrease in the number of mastectomies performed. However, the study failed to take into account that many women without breast cancer do not pursue mastectomy in the months following genetic testing. (1/4/17)
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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)
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Relevance: Medium
Most relevant for: People diagnosed with cancer
Study: What are the genetics underlying 12 different cancer types?
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)
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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)
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Relevance: Medium
Most relevant for: Survivors of childhood cancer and people with a family history of relatives diagnosed with childhood cancers
Study: How many children with cancer have mutations in genes that increase cancer risk?
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)
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