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

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)

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

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)

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

Most relevant for: Women diagnosed with breast cancer who do not know if they have an inherited mutation in a gene linked to breast cancer

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

Most relevant for: People with metastatic breast cancer with an inherited mutation in PALB2 or tumor with a BRCA mutation

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 contralateral breast cancer in women with an inherited BRCA1, BRCA2 or TP53 mutation?

Most relevant for: Women diagnosed with breast cancer before age 40

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 surveillance. Research has shown that women with an inherited mutation in BRCA1 or BRCA2 have an increased risk for contralateral breast cancer. A British study shows that women with an inherited mutation in the TP53 gene may have an increased risk for contralateral breast cancer, which is even higher greater than the risk of women with a BRCA1 or BRCA2 mutation. (6/6/20)

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

Most relevant for: Men with metastatic castration-resistant prostate cancer who have certain inherited or tumor mutations in DNA repair genes

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

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

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

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 : Inherited breast cancer in Nigerian women

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)