Keyword: CHEK2

Topic : Colorectal cancer is on the rise in young adults: What Millennials and Gen Zs need to know

Most relevant for: Young adults

The rate of colorectal cancer among young adults in the US has been increasing since the 1990s. Scientists are trying to figure out why. (Posted 8/15/23)

Study : Promising early results for treating metastatic prostate cancer

Most relevant for: People with metastatic castration-resistant prostate cancer (mCRPC)

The TALAPRO studies looked at how well the oral drug Talzenna (talazoparib) works as a treatment for metastatic castration-resistant prostate cancer (mCRPC). The addition of Talzenna to treatment with Xtandi (enzalutamide) increased the time until the cancer got worse or came back (progression-free survival). The greatest benefit was seen in people who had an inherited or tumor mutation in a gene that repairs DNA damage (such as ATM, BRCA1, BRCA2 and others). (Posted 3/1/23)

Update: On June 20, 2023, the Food and Drug Administration (FDA) approved the combination of Talzenna with Xtandi as an initial treatment for some people with mCRPC for people with inherited or tumor mutations in genes that repair DNA damage. 

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

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 : 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)

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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 a new breast cancer diagnosis in the other breast for women with a BRCA1, BRCA2 or TP53 mutation?

Most relevant for: Women diagnosed with breast cancer who have a mutation in BRCA1, BRCA2 or TP53

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

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)

Este artículo está disponible en español.