Categories Genetic Testing

Study : What is the risk for a new breast cancer diagnosis in the other breast for women with a BRCA1, BRCA2 or TP53 mutation?

Relevance: High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: Women diagnosed with breast cancer who have a mutation in BRCA1, BRCA2 or TP53

For women who have been diagnosed with breast cancer, knowing their risk of breast cancer in the other (contralateral) breast can help them make decisions about surgery and screening. This study shows that women with an inherited mutation in BRCA1, BRCA2 or TP53 have an increased risk for contralateral breast cancer. This risk is highest in women with a TP53 mutation. (6/6/20)

Study : Racial and ethnic differences in genetic testing among young breast cancer survivors

Relevance: High

Strength of Science: Medium-High

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Most relevant for: Women diagnosed with breast cancer at age 50 or younger

Genetic testing is recommended for most women who are diagnosed with breast cancer at age 50 or younger.  In this study of young women with breast cancer, while the rates of genetic testing  did not differ, the rates of women testing positive for an inherited mutation associated with breast cancer did vary between racial and ethnic groups. (2/27/20)

Este artículo está disponible en español.

Study : Cancer risk associated with inherited mutations in Lynch syndrome genes

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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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)

Update : Genetic causes of hereditary pancreatic cancer: BRCA and beyond

Relevance: High

Research Timeline: Post Approval

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Most relevant for: People diagnosed with pancreatic cancer

An update on hereditary pancreatic cancer presented at the annual American Society of Clinical Oncology meeting covered genes and lifetime risk. The update emphasized that all pancreatic cancer patients should be offered genetic counseling and testing. Genetic test results may impact treatment, screening for other cancers and risk to family members. (11/26/19)

Study : Inherited mutations in metastatic breast cancer patients

Relevance: Medium-High

Strength of Science: Medium

Research Timeline: Post Approval

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Most relevant for: People with metastatic breast cancer

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)

Personal Story : A young woman's story of genetic testing and risk-reducing mastectomy

Relevance: Medium-High

Quality of Writing: Medium-High

Most relevant for: Young women of color with a BRCA mutation

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)

Este artículo está disponible en español.

Study : Do Vitamin B supplements alter breast cancer risk for women with BRCA mutations?

Relevance: Medium-High

Strength of Science: Medium-High

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Most relevant for: High risk women with a BRCA1 or BRCA2 mutation

Vitamins are an essential part of our diet. Vitamin supplements are often used to improve general health. This study explores how vitamin B supplements may affect breast cancer risk in women with BRCA mutations. (5/17/19)

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

Relevance: Medium-High

Research Timeline: Post Approval

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)

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

Relevance: High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: African American women who are at high risk for breast cancer

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)

Study : Prevalence of BRCA founder mutations in Bahamian women

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: Bahamanian women

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)