Categories Genetic Testing

Article : A food lover’s decision to remove her stomach highlights difficult decisions around cancer risk

Most relevant for: People with a CDH1 mutation or a family history of stomach cancer

National Public Radio reporter Sáša Woodruff shares her story of learning about her CDH1 mutation and making a decision about risk-reducing surgery. Mutations in the CDH1 gene significantly increase a person’s risk of stomach and breast cancers. Woodruff’s personal essay describes the psychological challenge of making decisions about risk-reducing surgeries and draws attention to a lesser-known mutation linked to hereditary cancer. (Posted 5/17/23)

Este artículo está disponible en español.

Study : Teens and young adults respond well to learning about familial cancer risk

Most relevant for: Mothers who have had genetic testing for BRCA1 or BRCA2 whether or not they have been diagnosed with breast or ovarian cancer

Little is known about how awareness of hereditary cancer in a high-risk family affects the quality of life of teens and young adults. This study looked at the lifestyle choices, cancer awareness and quality of life of adolescents and young adults whose mothers had undergone testing for a BRCA mutation. (Posted 10/11/2022) Este artículo está disponible en español.

Article : Chris Evert's ovarian cancer diagnosis highlights the importance of genetic counseling and testing

Most relevant for: People with genetic test result called a VUS

Tennis star Chris Evert shared her story about a change in her sister's genetic test results that led Ms. Evert to have genetic testing and her decision to have her ovaries removed to lower her cancer risk. Ovarian cancer was found at the time of Ms. Evert’s surgery, but fortunately, it was caught early. Her story highlights the importance of genetic counseling, testing and post-testing follow-up with experts. (Posted 2/8/22). Este artículo está disponible en español.

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.

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.

Article : Overview of pancreatic cancer treatment options

Most relevant for: People with pancreatic cancer

This review looks at current strategies for pancreatic cancer care and potential future therapies. (posted 7/28/21)

Este artículo está disponible en español.

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.

Study : Breastfeeding may lower risk of ovarian cancer in women with BRCA mutations

Most relevant for: Women considering breastfeeding who have inherited BRCA mutations.

Data from a large-scale study suggests that breastfeeding may protect against ovarian cancer in women with inherited mutations in BRCA1 or BRCA2. (1/28/21)

Este artículo está disponible en español.

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 : Knowing about an inherited BRCA mutation improves outcomes for women with breast cancer

Most relevant for: Young women with, or at high risk for an inherited BRCA mutation

Inherited mutations in the BRCA1 and BRCA2 genes are linked to a high lifetime risk of breast and other cancers. This study shows that women who know that they have a BRCA mutation before they are diagnosed with breast cancer have improved outcomes including diagnosis at earlier stages and improved overall survival. (10/26/20)