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 : 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 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 : 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

Summary: 

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)

Study : Study identifies genes associated with risk of triple-negative breast cancer

Most relevant for: People diagnosed with 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 : Removing ovaries before age 50 may increase the risk of chronic conditions for some women

Most relevant for: Women under 50 years of age who have had or are considering removing their ovaries

Removal of ovaries and fallopian tubes prevents ovarian cancer, but it may come with other health risks. Experts recommend removal of ovaries and fallopian tubes in women at high risk for ovarian cancer due to inherited mutations in BRCA or other genes linked to ovarian cancer risk. For these high-risk women the benefit of ovarian cancer prevention outweighs the risk of long-term complications. Based on a recent study, some researchers feel that for women who are not at increased risk for cancer, the risk for some chronic conditions is too high to consider removal of both ovaries. (11/1/16)

Study : What are the genetics underlying 12 different cancer types?

Most relevant for: People diagnosed with cancer

As gene sequencing has become more affordable, researchers and health care providers are now looking for mutations in many genes beyond BRCA1, BRCA2 and others that are associated with known hereditary cancer syndromes. By sequencing thousands of genes rather than just one or two, researchers can better understand which inherited mutations affect cancer risk. In this study, researchers sequenced thousands of genes in patients with one of 12 cancers, including breast, and catalogued which gene mutations are most commonly found in each cancer. (03/01/16)