Hereditary Cancer Risk

Study : Genetic testing among people with cancer can find mutations that may affect treatment and prevention

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: People diagnosed with cancer who have not yet had genetic testing

Despite national guidelines recommending genetic testing, less than 10 percent of eligible patients had genetic testing within two years after their cancer diagnosis. Among those who had testing, 10-30 percent had an inherited mutation that could affect their medical care. (Posted 3/15/2024)

Study : Genes linked to aggressive prostate cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People diagnosed with advanced prostate cancer

Previous research has linked some inherited mutations to prostate cancer risk. This study found a link to additional genes that should be added to prostate cancer gene panel tests. The study also looked at which genes were most closely linked to aggressive prostate cancer that is more likely to spread. (Posted 2/1/24)

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Update : A breast cancer vaccine for people with an inherited BRCA1, BRCA2 or PALB2 mutation

Relevance: Medium

Research Timeline: Human Research

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Most relevant for: People at increased risk for breast cancer undergoing prophylactic bilateral mastectomy due to an inherited mutation in BRCA1, BRCA2 or PALB2. People with TNBC who still have breast cancer after chemotherapy.

A breast cancer vaccine is showing promise in early clinical trials. Initially, the vaccine was tested in people with triple-negative breast cancer (TNBC) who were at high risk for recurrence. Now the vaccine is being tested to lower breast cancer risk among people with an inherited mutation in BRCA1, BRCA2  or PALB2. It is also being tested in people with triple-negative breast cancer who are at high risk for recurrence and are taking the immunotherapy drug Keytruda (pembrolizumab) after completing chemotherapy. (Posted 1/31/24)

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Study : H. pylori bacteria infection and risk of stomach cancer in mutation carriers

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People who are at increased risk for stomach cancer due to an inherited mutation.

The results of a study in Japan show that people with a bacterial infection called H. pylori and an inherited mutation in an ATM, BRCA1, BRCA2 or PALB2 gene have a high risk of stomach cancer.   (Posted 1/19/24)

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Study : Benefit of pancreatic cancer screening

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: People with an inherited BRCA1 or BRCA2 mutation

Among people with an inherited mutation in a BRCA1 or BRCA2 gene, screening for pancreatic cancer found most cancers at an earlier stage when they could be treated by surgery. Posted 1/17/24)

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Study : Genes, genetic counseling and disparities in endometrial cancer

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

Most relevant for: People diagnosed with endometrial cancer

Endometrial cancer is on the rise, and it can run in families. Genetic counseling has benefits for people with cancer and their family members. However, Black women with endometrial cancer more often have worse outcomes than white women.  Black women with endometrial cancer who test positive for an inherited mutation are less likely to see a genetic counselor. Given these disparities, Black women would benefit from better access to and referrals for genetic counseling. (Posted 12/14/23)

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Article : Breast cancer risk for transgender women with inherited mutations

Relevance: Medium

Most relevant for: Transgender women with inherited mutations who are considering or have had gender affirming care

There has been little research on breast cancer risk for transgender women who are at high risk for breast cancer due to an inherited mutation. This review summarizes what we know. (Posted 11/29/23)

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Article : Artificial intelligence (AI) may find breast cancer on mammograms sooner

Relevance: Medium-High

Research Timeline: Human Research

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Most relevant for: People interested in the use of artificial intelligence in medicine

Artificial intelligence (AI) tools may help doctors read mammograms. This assistance may lead to earlier diagnoses of breast cancer. (Posted 9/29/23)

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Article : Genetic testing and the future of medicine

Relevance: High

Quality of Writing: Medium-High

Most relevant for: People interested in genetic testing.

An article published in Katie Couric Media discusses genetic testing and how it can impact health. The author talked with Dr. Robert Steiner, a doctor who specializes in genetics. He talked about genetic testing and how the results can affect health and change lives. (Posted 9/28/23)

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Update : New drug combination for early treatment of some metastatic prostate cancer

Relevance: Medium-High

Research Timeline: Post Approval

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Most relevant for: People with metastatic castration resistant prostate cancer with a mutation in BRCA1 or BRCA2

The FDA approved Lynparza (olaparib) for use earlier in treatment of metastatic castration-resistant prostate cancer (mCRPC) when added to abiraterone and prednisone for people with a BRCA mutation found through genetic or tumor testing. Lynparza combined with hormone therapy may now be used as a first-line or later treatment. (Posted 9/11/23)

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