Keyword: PALB2

30 August 2022

Study : Screening for pancreatic cancer detects early-stage disease and improves survival

Most relevant for: People at increased risk for pancreatic cancer because of family history or an inherited mutation.

A research study has shown that screening for pancreatic cancer in people with an inherited mutation or family history was able to detect early-stage pancreatic cancers and improve survival. These results will likely change pancreatic cancer screening guidelines for high-risk individuals (Posted 8/30/22)

Este artículo está disponible en español.

28 July 2022

Article : How your ovarian cancer diagnosis can help your relatives

Most relevant for: People diagnosed with ovarian cancer

This media article provides tips from experts and the CDC for talking to family members after a diagnosis of ovarian cancer. It highlights which family members may be at risk of developing ovarian cancer or passing on genes that increase risk. The article provides links to resources, talking points, alternative methods of communication and potential reactions. (Posted 7/28/22)

Este artículo está disponible en español.

30 November 2021

Study : Mutations in BRCA1 or BRCA2 may increase risk for endometrial cancer

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)

Este artículo está disponible en español.

30 September 2021

Study : Genetic testing for inherited mutations may be helpful for all people with advanced or metastatic cancer

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)

Este artículo está disponible en español.

13 August 2021

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)

Este artículo está disponible en español.

1 July 2021

Study : Cancer risks of people with inherited PALB2 mutations

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)

Este artículo está disponible en español.

23 March 2021

Study : Patient outcomes and experiences of going flat

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)

Este artículo está disponible en español.

26 October 2020

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)