Keyword: brca

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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Guideline : ASCO guidelines recommend olaparib for people with early-stage, high-risk breast cancer and an inherited BRCA mutation

Relevance: Medium-High

Strength of Science: High

Research Timeline: Post Approval

Most relevant for: People with early-stage HER2-negative breast cancer and an inherited BRCA mutation

The American Society of Clinical Oncology (ASCO) has updated their breast cancer treatment guidelines to include treatment with the PARP inhibitor olaparib (Lynparza) for one year after completing chemotherapy, surgery and radiation (if used) to improve outcomes of people with an inherited mutation in BRCA1 or BRCA2 with early-stage, HER2-negative breast cancer who have a high risk for recurrence. (posted 8/6/21) Update: Based on results from the OlympiA Study, the FDA approved olaparib as adjuvant treatment for people with an inherited BRCA mutation who have been diagnosed with early-stage HER2-negative breast cancer and are at high risk for recurrence. (03/11/2022)

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Study : Cancer risks of people with inherited PALB2 mutations

Relevance: High

Strength of Science: High

Research Timeline: Post Approval

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Most relevant for: people with inherited PALB2 mutations

In the largest study of people with inherited PALB2 mutations to date, the gene was linked to increased lifetime risk of breast cancer in women and men, ovarian and pancreatic cancer but not prostate or colorectal cancer. (posted 7/1/21)

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Study : Women can have safe pregnancies after breast cancer treatment

Relevance: High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: Women who have had breast cancer who are considering pregnancy.

In a large analysis of all published studies to date, most women who become pregnant after breast cancer treatment had safe pregnancies, with no increase in their cancer recurrence risk. Infants of mothers treated for breast cancer were more likely to have low birth weight, preterm birth and small size at birth but there was no increase in birth defects. Breast cancer survivors who became pregnant had a similar risk of recurrence and survival as survivors who did not become pregnant. (posted 6/24/21)

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Study : Patient outcomes and experiences of going flat

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Post Approval

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Most relevant for: Women considering mastectomy without breast reconstruction.

Some patients with early-stage breast cancer or those considering risk-reducing surgery may choose mastectomy without reconstruction. This is often referred to as “going flat.” The results of this study suggest that surgeons play a significant role in supporting a patient’s decision to go flat. (3/23/2021)

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Study : Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: Women considering breastfeeding who have inherited BRCA mutations.

Data from a large-scale study suggests that breastfeeding may protect against ovarian cancer in women with inherited mutations in BRCA1 or BRCA2. (1/28/21)

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Study : Women support delayed removal of ovaries

Relevance: Medium-High

Strength of Science: Medium-High

Research Timeline: Human Research

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Most relevant for: Women at high risk of ovarian cancer who are considering undergoing risk-reducing surgery.

Risk-reducing early removal of fallopian tubes followed by removal of ovaries at a later date was acceptable to women at high risk of ovarian cancer due to an inherited mutation in a recent study. This was especially true for women worried about sexual dysfunction associated with surgical menopause. (12/24/20)

Study : Inherited gene mutations found in pancreatic cancer families in Spain

Relevance: Medium

Strength of Science: Medium

Research Timeline: Post Approval

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Most relevant for: People with pancreatic cancer and a family history of pancreatic or other cancers

This study looked for inherited mutations in genes known to be linked to hereditary pancreatic cancer. The results provide additional evidence that most hereditary pancreatic cancer is due to inherited mutations in genes that were previously associated with other forms of cancer. (10/29/20)