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Keyword: lynch
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
Study : Cancer risk associated with inherited mutations in Lynch syndrome genes
Most relevant for: People with Lynch syndrome mutations
Lynch syndrome is the most common inherited cause of cancer affecting about 1 in 300 people. People with Lynch syndrome have an increased risk of colorectal endometrial and other cancers. A large study followed people with mutations in the Lynch syndrome genes MLH1, MSH2, MSH6 and PMS2 to determine the risk of other types of cancer. (2/21/20)
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Study : Supportive care can improve quality of life for people with metastatic breast cancer
Most relevant for: People diagnosed with metastatic breast cancer
Metastatic breast cancer patients have unique needs for treatment and care. Connecting patients to appropriate support services and palliative care is an area of need in health care. A recent study reported improvement in metastatic breast cancer patient quality of life and wellness with an intervention program called the Supportive, Education and Advocacy (MBC-SEA) program. (8/21/19)
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Relevance: Medium-High
Research Timeline: Post Approval
Guideline : Breast surgeons recommend genetic testing for all breast cancer patients
Most relevant for: Anyone diagnosed with breast cancer
The American Society of Breast Surgeons published statement on genetic testing for hereditary breast cancer on February 10, 2019. It includes recommendations about who should be tested. Among these is the recommendation that all breast cancer patients get genetic testing, as well as women who do not have breast cancer but fit the National Comprehensive Cancer Network (NCCN) guidelines. (3/25/19)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Study identifies genes associated with risk of triple-negative breast cancer
Most relevant for: People diagnosed with triple-negative breast cancer
Panel testing can identify women who are at increased risk for breast cancer. However, those at risk for triple-negative breast cancer cannot easily be identified because other than BRCA1, genes that increase the risk for triple-negative breast cancer are unknown. A new study uses panel testing to identify which genes increase the risk for triple-negative breast cancer. (8/23/18)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
Study : Mutations in Lynch syndrome genes MSH6 and PMS2 may be associated with breast cancer
Most relevant for: Women with an MSH6 or PMS2 mutation
Some women with mutations in MSH6 and PMS2, two Lynch syndrome genes, may have a modest (2 to 3-fold) increased risk for breast cancer. (6/14/18 updated 09/25/19)
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Relevance: Medium-High
Strength of Science: Medium
Study : Take your time, follow your heart: strategies for communication about family planning
Most relevant for: Young high risk women
When a woman is newly diagnosed with a BRCA mutation, she faces many risk management decisions. Although many of these decisions impact family planning, little guidance is available on how to communicate this information. This study examines female previvors’ advice on effective strategies for discussing family planning decisions. (03/28/18)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Does expanded genetic testing benefit Jewish women diagnosed with breast cancer?
Most relevant for: Jewish women with breast cancer who previously tested negative for the three most common BRCA mutations
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)
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Study : Removing ovaries before age 50 may increase the risk of chronic conditions for some women
Most relevant for: Women under 50 years of age who have had or are considering removing their ovaries
Removal of ovaries and fallopian tubes prevents ovarian cancer, but it may come with other health risks. Experts recommend removal of ovaries and fallopian tubes in women at high risk for ovarian cancer due to inherited mutations in BRCA or other genes linked to ovarian cancer risk. For these high-risk women the benefit of ovarian cancer prevention outweighs the risk of long-term complications. Based on a recent study, some researchers feel that for women who are not at increased risk for cancer, the risk for some chronic conditions is too high to consider removal of both ovaries. (11/1/16)
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Relevance: Medium
Strength of Science: Medium-High
Research Timeline: Human Research
Study : How many children with cancer have mutations in genes that increase cancer risk?
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)
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