Keyword: CHEK2

Study: Among women with breast cancer, who should have genetic testing for an inherited mutation?

Which breast cancer patients should consider genetic testing? Knowing whether you have an inherited mutation may inform the decisions you and your healthcare provider make about treatment. But it can also increase stress and anxiety. This XRAY reviews a study of how different guidelines affect genetic testing recommendations for people with breast cancer. (8/27/20)

Study: Promising research using a PARP inhibitor to treat metastatic breast cancer in people with an inherited PALB2 mutation or a tumor mutation in BRCA1 or BRCA2

Early results of a small study showed that women with metastatic breast cancer and an inherited  mutation in PALB2 or an acquired tumor mutation in BRCA1 or BRCA2 benefitted from the PARP inhibitor olaparib (Lynparza). (6/18/20)

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

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)

Update: PARP inhibitors, rucaparib (Rubraca) and olaparib (Lynparza) receive FDA approval for metastatic prostate cancer

The FDA approved two PARP inhibitors, rucaparib (Rubraca) and olaparib (Lynparza) for treatment of metastatic castration-resistant prostate cancer (mCRPC) in men who have certain inherited mutations or tumor mutations. (6/1/20)

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

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

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

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: Inherited breast cancer in Nigerian women

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

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: Evaluation of some direct-to-consumer genetic testing reveals inaccuracies and misinterpretations

A clinical genetic testing laboratory examined results from direct-to-consumer genetic testing ordered directly by patients. They found many instances of false positives—reported mutations that were not actually present—and in some cases, reports of variants that "increased risk," but were actually benign. This study emphasized the importance of involving genetics experts in the interpretation of genetic test results. (6/28/18)