Keyword: PALB2

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)

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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)

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 : Breast cancer risk increases modestly after childbirth

Relevance: Medium-High

Strength of Science: Medium-High

Most relevant for: Women in their childbearing years

Does having children alter the risk of breast cancer? Women who give birth have a lower lifetime risk of breast cancer. However, newer data suggests that breast cancer risk increases immediately after childbirth. A study published in December 2018 examines data from the Premenopausal Breast Cancer Collective Group seeking to clarify this issue. (12/28/18)

Study : Inherited breast cancer in Nigerian women

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: Nigerian women or women of Nigerian descent who have breast cancer

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)

Study : Study identifies genes associated with risk of triple-negative breast cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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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)

Study : No new high-risk breast cancer genes here

Relevance: Medium-Low

Strength of Science: Medium-Low

Research Timeline: Human Research

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Most relevant for: People with a family history of breast cancer but no known inherited mutation

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)

Study : Angelina Jolie spoke out on BRCA testing: Did genetic testing increase?

Relevance: Medium

Strength of Science: Medium-Low

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Most relevant for: People interested in genetic testing for an inherited mutation

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)

Study : Rare mutations in PALB2, CHEK2, and ATM: how much do they increase cancer risk?

Relevance: Medium-High

Strength of Science: Medium

Research Timeline: Post Approval

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Most relevant for: People who tested positive for one of the rare variants in CHEK2, ATM or PALB2 that are covered in this study

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)

Study : What are the genetics underlying 12 different cancer types?

Relevance: Medium

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People diagnosed with cancer

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)