FORCE's eXamining the Relevance of Articles for You (XRAY) program looks behind the headlines of cancer news to help you understand what the research means for you.
XRAY is a reliable source of hereditary cancer research-related news and information.
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In portal: Ovarian Cancer, Categories Genetic Testing
Relevance: Medium-Low
Strength of Science: Medium
Research Timeline: Human Research
Study : A new method for determining whether genetic variants in BRCA1 increase cancer risk
Relevance: Medium-Low
Strength of Science: Medium
Research Timeline: Human Research
Most relevant for: People who have a Variant of Uncertain Significance in a gene associated with cancer risk.
Ever since BRCA1 was discovered, researchers have been trying to understand which of the thousands of possible DNA changes in this gene increase cancer risk and which are harmless changes. A new study in Nature reports how a cutting-edge technology called “genome editing” may be used to classify changes—known as variants of uncertain significance-in BRCA1 as harmful or harmless. Once validated, this same technology may be used to classify variants in other genes. (9/29/18)
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Relevance: Medium-High
Quality of Writing: Medium-High
Article : Cancer experience in families affects decision making
Relevance: Medium-High
Quality of Writing: Medium-High
Most relevant for: Women with an inherited mutation linked to increased risk for cancer
Women with inherited mutations in genes that increase breast and ovarian cancer risk have an additional challenge: coping with how those mutations impact their families and how a family member’s cancer experience can shape their own perception. In a recent U.S. News and World Report article, Elaine Howley explores how a woman's decisions about healthcare, cancer prevention and treatment are affected by experience with cancer in the family. (9/25/18)
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Relevance: Medium-High
Strength of Science: High
Research Timeline: Post Approval
Study : Hormone therapy and breast cancer risk after ovary removal in women with a BRCA1 mutation
Relevance: Medium-High
Strength of Science: High
Research Timeline: Post Approval
Most relevant for: Women with BRCA1 mutations who have had risk-reducing ovary removal and have never been diagnosed with breast cancer
Does hormone therapy (HT) alter the risk of breast cancer for woman carrying a BRCA1 mutation who have never been diagnosed with cancer? In this study, researchers showed that among women with BRCA1 mutations, HT use did not increase breast cancer rates for 10 years after ovary removal. More women taking combined estrogen plus progesterone developed breast cancer compared to those taking estrogen only, though this difference was not statistically significant. (9/7/18)
Relevance: Medium
Strength of Science: Medium
Research Timeline: Human Research
Study : Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations
Relevance: Medium
Strength of Science: Medium
Research Timeline: Human Research
Most relevant for: People who are considering or have had direct-to-consumer testing
A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)
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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
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Human Research
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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Article : The right not to know when not knowing is dangerous
Most relevant for: People with Icelandic heritage
Healthcare providers are bound by the guiding principle of doing no harm. But how does this concept apply to their patients who have not consented to genetic testing or who do not want to know their results? In that case, is providing test results more harmful or not? Anna Clausen explores these issues in the context of breast cancer gene testing in her Global Health Now article “The Right Not to Know: When Ignorance is Bliss but Deadly.” (4/20/18)
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Update : FDA approves at-home test kits for inherited cancer: how useful are they?
Most relevant for: People who are considering or have had direct-to-consumer testing through 23andMe
Genetic testing for health conditions (such as risk for cancer) typically requires a prescription from a doctor. Until recently, direct-to-consumer (DTC) genetic testing has focused on tests to learn your ancestry and find of unknown branches of family trees. A laboratory called 23andMe that provides direct-to-consumer genetic testing has been given FDA approval to report results for 3 mutations found in the BRCA1 and BRCA2 genes. The FDA statement provides details about this approval and warns people about the limitations of the 23andMe test. (03/19/18)
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Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Study : Genetic counseling by phone or face-to-face
Relevance: Medium-High
Strength of Science: Medium-High
Research Timeline: Post Approval
Most relevant for: People referred to a genetic counselor or those considering genetic testing
Results presented at the 2017 American Psychological Association’s annual meeting showed genetic counseling by telephone is as “safe and effective” in long-term psychological and social outcomes compared to traditional in-person counseling for women at risk for hereditary breast and ovarian cancer. This presentation is an update on research published in 2014. (11/29/17)
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Article : Preimplantation genetic diagnosis and hereditary cancer
Most relevant for: people with an inherited mutation linked to cancer risk
Andrew Joseph’s piece for STAT, “A baby with a disease gene or no baby at all: Genetic testing of embryos creates an ethical morass,” focuses on preimplantation genetic diagnosis (PGD) and the emerging ethical issue in the field of reproductive medicine: What to do when patients seeking to get pregnant select embryos with DNA that could lead to a disease or a disability. (11/8/17)
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Article : Mixed reviews of at-home genetic testing
Most relevant for: People who are considering or have had direct-to-consumer testing
National guidelines recommend that patients meet with a genetics expert before undergoing genetic testing for cancer risk. Genetic counseling can help patients decide whether genetic testing is right for them and order the most appropriate test. Once test results are available, genetics experts also help patients understand their results. Over the last decade, the popularity of direct-to-consumer (DTC) genetic testing, such as 23andMe has grown. Some genetic tests are marketed to consumers on television, in print advertisements, and on the Internet. These “at-home” genetic tests give people direct access to their genetic information without first involving a healthcare provider in the process. A recent report outlines the benefits and limitations of DTC genetic testing. (10/20/17)
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