XRAYS - Making Sense of Cancer Headlines

FORCE’s eXamining the Relevance of Articles for Young Survivors (XRAYS) program is a reliable resource for breast cancer research-related news and information. XRAYS reviews new breast cancer research, provides plain-language summaries, and rates how the media covered the topic. XRAYS is funded by the CDC.

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Genetic Testing

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STUDY: Inherited mutations In metastatic breast cancer patients

Recent research shows that a significant portion of patients with metastatic breast cancer have harmful mutations in a gene associated with hereditary breast cancer and increased breast cancer risk. (9/26/19)

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PERSONAL STORY: A young woman's story of genetic testing and risk-reducing mastectomy

Alejandra Campoverdi comes from a family with three generations of breast cancer. As a former White House aide and active educator in the Latina community, she has openly shared her story of genetic testing, her BRCA2 mutation and her plans for risk-reducing mastectomy at age 39. (6/6/19)

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GUIDELINE: Breast surgeons recommend genetic testing for all breast cancer patients

Summary: 

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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STUDY: Gaps in information about breast cancer risk and prevention impact African American women

A study showed that African American women with increased breast cancer risk experienced greater burdens in obtaining information at each step compared to white women. Racial differences in preventive choices correlated with differences in information and provider access. (3/14/19)

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STUDY: Prevalence of BRCA founder mutations in Bahamian women

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The Bahamas has the highest known frequency of BRCA mutations among people diagnosed with breast cancer. This study reviewed whether population-based BRCA testing (testing everyone regardless of family or personal history of cancer) would be an effective approach for finding mutation carriers in the Bahamas. (3/4/19)

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ARTICLE: The cost of cancer care and impact of financial hardship on treatment

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Several recent studies on the cost of cancer care show the negative effects on cancer patients. In this XRAYS we review a recent article by Kaiser Health News and associated studies about the financial impact of breast cancer treatment and cost of precision medicine. (2/8/19)

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STUDY: Inherited breast cancer in Nigerian women

A new study shows that among Nigerian women, one in eight cases of breast cancer is due to an inherited mutation in BRCA1, BRCA2, PALB2 or TP53. (12/5/18)

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STUDY: Can population-based DNA sequencing find more people at risk for hereditary cancers?

It is well documented that many BRCA mutation carriers are missed using current family history-based screening approaches. As a result, experts are beginning to call for population-based BRCA genetic testing—an organized effort to screen all women like we do for breast and cervical cancer.  A recent study looked at whether a population-based genetic testing approach would better identify mutation carriers compared with current practice. (11/17/18)

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STUDY: Surgeon attitude impacts rate of genetic testing after a breast cancer diagnosis

A study in JAMA Surgery this year examined the factors that impact genetic testing after a breast cancer diagnosis. This study suggests that the attitudes of attending surgeons about genetic testing have the most impact on whether patients receive testing. (10/6/18)

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STUDY: A new method for determining whether genetic variants in BRCA1 increase 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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ARTICLE: Cancer experience in families affects decision making

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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STUDY: Study identifies genes associated with risk of 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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STUDY: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations

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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STUDY: Mutations in Lynch syndrome genes MSH6 and PMS2 may be associated with breast cancer

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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STUDY: XRAYS Follow Up: Does expanded genetic testing benefit Jewish women with breast cancer?

In this follow-up, we update a recent XRAYS on expanded genetic testing in Jewish women with breast cancer.  An expert in the field suggests a different interpretation of the original study than the authors. We examine the key differences in interpretation of the data. (6/7/18)

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ARTICLE: The right not to know when not knowing is dangerous

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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STUDY: Take your time, follow your heart: strategies for communication about family planning

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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STUDY: FDA approves breast cancer test kits: how useful are they?

Interest in personalized genetic testing is growing. Genetic testing about health conditions typically requires a prescription from a health care provider. Until recently, the direct-to-consumer (DTC) testing market has focused on ancestry and discovery 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 cautions consumers about the limitations of the 23andMe test. (03/19/18)

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ARTICLE: Insurance companies are more than curious about your genetic test results

An article on CBSNews.com addressed why insurance companies, particularly long-term insurance companies, might want to know which of their policy holders and potential policy holders have a gene that raises their risk for cancer. The article discusses genetic discrimination by insurance companies that provide long term care policies. Federal laws protect people with gene mutations from discrimination in health insurance. No such federal laws exist for life insurance, disability insurance or long term care. (3/13/18)

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STUDY: Survival and mutation status in breast cancer patients under age 40

Studies have found conflicting rates of survival for BRCA mutation carriers who develop breast cancer, reporting better, worse and similar outcomes compared to patients with sporadic breast cancer. New results of the large Prospective Outcomes in Sporadic versus Hereditary (POSH) breast cancer study found no difference in survival rates between the two groups. The study also concluded that among young triple-negative breast cancer patients during the first 2 years after diagnosis, BRCA mutation carriers had an initial survival advantage compared to women without a BRCA mutation. (02/15/18)

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STUDY: No new high-risk breast cancer genes here

While some of the genes that cause hereditary breast cancer are known (for example, inherited mutations in genes like BRCA, ATM and PALB2), others remain unidentified. Two studies found 72 DNA changes (also known as “variants” or “SNPs”) that affect breast cancer risk. These variants are different from mutations in genes that dramatically increase cancer risk. Most of these new variants are located outside of the portion of DNA that is used to make proteins. Further research is needed on these new variants before they can be used by doctors to help people understand and manage their risk for cancer. (1/12/18)

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STUDY: Genetic counseling by phone or face-to-face

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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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)

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STUDY: Gaps in genetic testing and decision-making for women with early-stage breast cancer

Genetic testing for cancer risk is now more affordable and easier to obtain. As a result, many breast cancer patients are tested without ever seeing a genetic counselor. Genetic testing results affect treatment decision making, but they can be confusing, especially if patients do not receive genetic counseling. This study looks at breast cancer patients’ experiences following genetic testing and how testing results affect surgical decision making. (7/14/17)

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STUDY: Patient experiences with genetic testing

Patients can now find out if they have a mutation in more than 20 different genes that are associated with cancer risk, thanks to research advances and the decreasing cost of genetic testing. However, patients’ experiences and use of genetic counseling and testing with these changes are unknown. Do patients want genetic testing? Are they getting tested? (3/7/17)

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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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ARTICLE: Genetic testing has become more affordable and available. Should you get it?

What are reasons to get or not get genetic testing? Cynthia Graber gives her thoughts on the matter in her Wired opinion piece, "Why I Won't Get the Genetic Test for Breast Cancer." (11/15/16)

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STUDY: Racial disparities in BRCA testing: Why?

Black women receive BRCA testing less frequently than white women. Why is that? Researchers thought the reason might be that black and white women see different health care providers. However, new research suggests that disparities in physician recommendations for testing are the cause: black women with breast cancer were less likely to receive physician recommendations for BRCA testing than white women with breast cancer. There is a need to ensure equity in physician testing recommendations for black women. (7/21/16)

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STUDY: Genetic testing for cancer risk: How many genes to sequence?

The past four years has seen a revolution in genetic testing for increased cancer risk. As the cost of genetic testing falls, patients can choose to have a single gene or a dozen or more sequenced. But many questions remain: Which genes should you search? How many should be sequenced? What tests are appropriate for which patients? A recent study that looked at sequencing 180 different genes found that increasing the number of genes sequenced beyond those known to elevate breast and ovarian cancer risk increases the number of uncertain results and does little to change clinical management. (06/14/16)

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ARTICLE: New York Times report demonstrates need for genetic counseling, but doesn’t give the whole story

A New York Times report discussed how genetic testing could provide “grim data” without guidance for patients. While this is a valid concern, this report does not sufficiently emphasize certain important issues regarding genetic testing, particularly the need for genetic counseling by a health care provider with expertise in genetics before and after genetic testing. (4/5/16)

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STUDY: BRCA testing in young women with breast cancer

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)

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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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STUDY: Are mutations in BRIP1, BARD1, PALB2, and NBN associated with an increased risk for ovarian cancer?

Many women who have genetic testing for an inherited mutation find that they do not carry a mutation in BRCA1 or BRCA2 despite their personal and family history of breast and/or ovarian cancer. Panel tests look for mutations in other genes associated with increased cancer risk. However, the cancer risk for people with mutations in some of these other genes is not yet known. This study looks at whether mutations in four genes, BRIP1, BARD1, PALB2, and NBN, are associated with an increased risk for ovarian cancer. The researchers found that BRIP1 mutation carriers have about a 6% risk of developing ovarian cancer by age 80. (02/09/16)

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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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ARTICLE: What “The Truth About Cancer” got wrong about BRCA mutations and cancer

A website called thetruthaboutcancer.com, created a 9-part docu-series titled “The Truth About Cancer: A Global Quest” (TACGQ). The video states that Angelina Jolie’s decision to remove her breasts was one made out of fear; one commentator states that her decision was “barbaric." This video  contains a lot of dangerous misinformation about BRCA mutations and inherited cancer. FORCE XRAYS provides the following point-by-point analysis on "The Truth About Cancer." (11/10/2015)

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STUDY: Impact of familial breast cancer risk on young girls

Does growing up in a family that is at high risk for breast cancer affect young girls? Recent research found girls from families with BRCA mutations and/or a strong family history of cancer to be as well adjusted as peers of the same age. The one difference was that girls from families facing breast cancer risk had more stress related to breast cancer than their peers. While these findings are reassuring, parents know their children best, and they should ask for help if they believe their daughters are not coping well. (11/03/2015)

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STUDY: Are more men with breast cancer opting for prophylactic mastectomy?

Recent headlines describe the rise in prophylactic double mastectomy for men with breast cancer. We looked at the research to see how many men are choosing this option and what it means for men with breast cancer. (10/6/15)

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STUDY: BRCA mutations more common than expected in young black women with breast cancer

Most estimates of the percentage of breast cancer patients with mutations in BRCA are based on studies in white women. These researchers found that black women diagnosed at a young age with breast were twice as likely to have a BRCA mutation than previously reported based on studies in white women with breast cancer diagnosed in the same age categories. This study shows how important it is for all black women diagnosed with invasive breast cancer at or before age 50 to be referred for genetic counseling and testing. (9/29/15)

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STUDY: Mutations found through multigene panel testing for cancer risk can change patient care

Multigene panel testing can look for mutations in many genes associated with increased cancer risk all in the same test. Some panels include genes associated with increased risk of multiple cancers, including breast, ovarian, colon, and gastric cancers. This study showed that results from multigene panel testing may change medical options for patients who test positive for a mutation linked to increased cancer risk. (9/22/15)

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