Keyword: brca

Study : PARP inhibitor treatment for metastatic prostate cancer shows most benefit in men with inherited BRCA mutations

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: People with metastatic castration resistant prostate cancer who have an inherited or tumor mutation in BRCA2.

This study looked at the benefit of using the PARP inhibitor niraparib to treat metastatic castration-resistant prostate cancer (mCRPC). Participants included those with an inherited or tumor mutation in BRCA1 or BRCA2 or an inherited or tumor mutation in another gene that affects DNA repair. Participants with an inherited or tumor mutation in BRCA1 or BRCA2 had better survival compared to those without a BRCA mutation. Side effects from niraparib were common, and consistent with previous reports for PARP inhibitors.  (posted 9/6/2022)

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Study : Screening for pancreatic cancer detects early-stage disease and improves survival

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: People at increased risk for pancreatic cancer because of family history or an inherited mutation.

A research study has shown that screening for pancreatic cancer in people with an inherited mutation or family history was able to detect early-stage pancreatic cancers and improve survival. These results will likely change pancreatic cancer screening guidelines for high-risk individuals (Posted 8/30/22)

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Article : Rise in endometrial cancer affects Black women more than white women

Relevance: High

Quality of Writing: High

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Most relevant for: People concerned about their risk for endometrial cancer

The New York Times calls attention to the increase in a type of cancer of the uterus called endometrial cancer and how it disproportionately affects Black women. The article provides useful information about endometrial cancer while raising awareness of a significant and growing health disparity.  (Posted 8/16/22)

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Article : How your ovarian cancer diagnosis can help your relatives

Relevance: High

Quality of Writing: Medium-High

Most relevant for: People diagnosed with ovarian cancer

This media article provides tips from experts and the CDC for talking to family members after a diagnosis of ovarian cancer. It highlights which family members may be at risk of developing ovarian cancer or passing on genes that increase risk. The article provides links to resources, talking points, alternative methods of communication and potential reactions. (Posted 7/28/22)

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Study : Risk-reducing ovarian cancer surgery and quality of life

Relevance: Medium-High

Strength of Science: High

Research Timeline: Human Research

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Most relevant for: People with an inherited BRCA mutation

People with an inherited BRCA gene mutation are recommended to have surgery to remove their ovaries before the age of natural menopause to reduce their risk of ovarian cancer.  This surgery can cause short-term and long-term effects. This study assesses the quality of life among people who have their fallopian tubes surgically removed and later have their ovaries removed compared to people who have their ovaries and fallopian tubes removed at the same time.  (Posted 7/26/22). Este artículo está disponible en español.

Article : Breast cancer risk for transgender men with inherited mutations

Relevance: Medium-High

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Most relevant for: Transgender men with an inherited mutation

There is little information related to the risks and treatment options for transgender men and nonbinary people who are at high-risk for breast cancer due to an inherited BRCA1 or BRCA2 mutation. We review an expert viewpoint on the implications of a BRCA mutation for transgender men undergoing breast removal as part of their gender-affirming care plan. (posted 5/19/22)

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Study : Quality of life for people with early-stage breast cancer who participated in the OlympiA clinical trial

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: People with inherited mutations in BRCA1 or BRCA2 who have been diagnosed with early-stage, HER2-negative breast cancer.

The OlympiA study showed that the PARP inhibitor olaparib (Lynparza) is effective when used as maintenance therapy for people with an inherited BRCA1 or BRCA2 mutation who have early-stage breast cancer. Patient-reported outcomes from OlympiA suggest that olaparib was well tolerated and did not reduce quality of life or delay recovery from chemotherapy. (posted 2/22/22) Update: Based on OlympiA results, the FDA approved olaparib as adjuvant treatment for people with an inherited BRCA mutation who were diagnosed with early-stage HER2-negative breast cancer at high risk for recurrence. (03/11/2022). 

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Study : Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: People with BRCA1 or BRCA2 mutations

A Dutch study added further evidence that women with a BRCA1 mutation may have an elevated risk for endometrial cancer. The study found that the endometrial cancer in women with either a BRCA1 or BRCA2 mutation was more likely to be an aggressive form of cancer associated with a poor outcomes. (posted 11/30/21)

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Study : Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer

Relevance: High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: people with metastatic or recurrent cancer

In a study of nearly 12,000 cancer patients with a variety of cancers, eight percent of participants with metastatic cancer had an inherited mutation in a cancer gene that qualified them for a targeted treatment approved by the FDA or for participation in a clinical trial. The majority of people with metastatic cancer were unaware that they had an inherited mutation, and had not receive gene-directed treatment to which their tumor may have responded. The study authors suggest that genetic testing for inherited mutations may be warranted for all patients with advanced or metastatic cancer. (posted 9/30/21)

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Study : Frequency of inherited mutations linked to breast cancer are similar in Black and white women

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: Non-Hispanic Black and white women with breast cancer

The CARRIERS study looked at the rate of inherited mutations in women with and without breast cancer. In an extension of the CARRIERS study, researchers found no difference in the frequency of inherited mutations in breast cancer genes among Black and white women with breast cancer. A few individual genes differed in frequency: BRCA2 and PALB2 mutations were seen more often in Black women, while CHEK2 mutations were seen less often. Researchers concluded that race should not be used to determine who is referred for genetic testing. (posted 8/13/21)

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