Research test identifies BRCA2 gene mutations that lead to breast, ovarian cancers

January 25, 2018, Mayo Clinic
Credit: CC0 Public Domain

A new test developed by researchers at Mayo Clinic shows which mutations in the BRCA2 gene make women susceptible to developing breast or ovarian cancers. The research behind the test was published today in the American Journal of Human Genetics.

"Certain inherited in the BRCA2 gene have been linked to breast and ovarian cancer," says Fergus Couch, Ph.D., lead author of the study. "This test offers an excellent way to predict whether individual inherited mutations cause cancer."

In their study, Dr. Couch and his co-authors describe a laboratory-based test that can establish which inherited mutations called variations of uncertain significance in the BRCA2 gene are involved in cancer.

"Up until now, it has only been possible to establish that 13 inherited mutations in BRCA2 are pathogenic and known to cause cancer," says Dr. Couch. "In this study, we identified 54 that increase the risk of cancer. Similarly, 21 known neutral mutations that do not increase risk of cancer can now be expanded to 73. These findings may help patients and their make better decisions about how to deal with information obtained through genetic testing."

Going forward, Dr. Couch says this research will make it possible to evaluate the potential involvement in of many more inherited mutations in the BRCA2 gene.

Explore further: Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

Related Stories

Genetic predisposition to breast cancer due to non-brca mutations in ashkenazi Jewish women

July 20, 2017
Genetic mutations in BRCA1 and BRCA2 increase the risk of breast and ovarian cancer in Ashkenazi Jewish women. A new article published by JAMA Oncology examines the likelihood of carrying another cancer-predisposing mutation ...

Mystery of breast cancer risk gene solved, 20 years after its discovery

October 4, 2017
More than 20 years after scientists revealed that mutations in the BRCA1 gene predispose women to breast cancer, Yale scientists have pinpointed the molecular mechanism that allows those mutations to wreak their havoc.

Research uncovers more inherited genetic mutations linked to ovarian cancer

February 10, 2016
Previous research has established a link between genetic mutations in the BRCA1 and BRCA2 genes to an increased risk of developing ovarian, fallopian tube or peritoneal cancer in women. A recent publication documents the ...

Risk of breast and ovarian cancer may differ by type of BRCA1, BRCA2 mutation

April 7, 2015
In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers at The Basser Center for BRCA, the Abramson Cancer Center, and the Perelman School of Medicine at the University ...

Searching for the 'signature' causes of BRCAness in breast cancer

August 21, 2017
Breast cancer cells with defects in the DNA damage repair-genes BRCA1 and BRCA2 have a mutational signature (a pattern of base swaps—e.g., Ts for Gs, Cs for As—throughout a genome) known in cancer genomics as "Signature ...

Recommended for you

Policing protein restrains genes to enable healthy development

August 21, 2018
Melbourne scientists have shown for the first time how a protein called SMCHD1 helps to police healthy development in the body.

New study explains why genetic mutations cause disease in some people but not in others

August 20, 2018
Researchers at the New York Genome Center (NYGC) and Columbia University have uncovered a molecular mechanism behind one of biology's long-standing mysteries: why individuals carrying identical gene mutations for a disease ...

Researchers find potential new gene therapy for blinding disease

August 20, 2018
The last year has seen milestones in the gene therapy field, with FDA approvals to treat cancer and an inherited blinding disorder. New findings from a team led by University of Pennsylvania vision scientists, who have in ...

Critical role of DHA on foetal brain development revealed

August 17, 2018
Duke-NUS researchers have found evidence that a natural form of Docosahexaenoic Acid (DHA) made by the liver called Lyso-Phosphatidyl-Choline (LPC-DHA), is critical for normal foetal and infant brain development, and that ...

New algorithm could improve diagnosis of rare diseases

August 17, 2018
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.

Gene silencing critical for normal breast development

August 17, 2018
Researchers have discovered that normal breast development relies on a genetic 'brake', a protein complex that keeps swathes of genes silenced.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.