Study provides new clue to family risk for breast cancer

April 10, 2007

An international team of researchers, led by Dr. William Foulkes of McGill University's Program in Cancer Genetics and Chief of Cancer Genetics, Jewish General Hospital Cancer Prevention Centre, has linked a particular genetic mutation to increased risk for breast cancer. The discovery, reached after more than a decade of studying two families in Montreal with particularly high rates of breast cancer, is published in this week's Proceedings of the National Academy of Science.

Dr. Foulkes and his team, including genetic counselor Nora Wong and Marc Tischkowitz, Assistant Professor and Medical Geneticist at the Jewish General Hospital's Segal Cancer Centre, characterized two mutations in the recently identified breast cancer susceptibility gene, PALB2, as being associated with a particular breast cancer "signature." The discovery may open new avenues for both identifying PALB2 mutation carriers and for treating women who carry these mutations with drugs that are targeted to components of the novel signature. "The door was already unlocked with the discovery of PALB2," said Dr. Foulkes. "What we've done is rearranged the furniture a bit."

With the help of collaborators at Harvard's Dana Farber Cancer Institute (including Dr. Bing Xia, who first identified PALB2 just over a year ago), Breakthrough Breast Cancer (Institute of Cancer Research, London, UK) and the Netherlands Cancer Institute, Amsterdam, they showed that these two mutations may be associated with a higher than expected risk of breast cancer, which could have implications for other PALB2 mutation carriers. In addition, unlike the situation for most other breast cancer susceptibility genes, it now appears that inactivation of the PALB2 gene does not have to be complete for breast cancer to develop.

"This is another 'factual brick' in the ongoing construction of our understanding of breast cancer susceptibility," explained Dr. Foulkes. "Approximately 10 genes, including PALB2, have now been associated with a two-fold or greater risk for breast cancer, and carriers of mutations in these genes require special surveillance, including magnetic resonance imaging. Some may opt for preventive surgery."

As those choices are often difficult, Dr. Foulkes pointed out that the Montreal-based Hereditary Breast and Ovarian Cancer foundation, led by McGill physician Harley Eisman, has been established with the specific aim of meeting the needs of families at risk.

The clinical work for this project was carried out by members of the Medical Genetics service at the McGill University Health Centre (MUHC) and the Sir Mortimer B. Davis Institute at the Jewish General Hospital, a McGill University teaching hospital.

Source: McGill University

Explore further: Searching for the 'signature' causes of BRCAness in breast cancer

Related Stories

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 ...

Gene increases risk of breast cancer to one in three by age 70

August 6, 2014
Breast cancer risks for one of potentially the most important genes associated with breast cancer after the BRCA1/2 genes are today reported in the New England Journal of Medicine. Women with mutations in the PALB2 gene have ...

New clues may link hereditary cancer genes to increased risk of cancer from alcohol

January 23, 2014
In laboratory experiments conducted on human cell lines at the Johns Hopkins Kimmel Cancer Center, scientists have shown that people carrying certain mutations in two hereditary cancer genes, BRCA2 and PALB2, may have a higher ...

World-first study confirms rare genetic mutations cause high breast cancer risk

September 5, 2016
A massive global study led by researchers at the University of Melbourne and Cancer Council Victoria has confirmed that the risk of developing breast cancer from some relatively rare genetic changes is similar to that from ...

Mutations in susceptibility genes common in younger African American women with breast cancer

June 3, 2013
A high percentage of African-American women with breast cancer who were evaluated at a university cancer-risk clinic were found to carry inherited genetic mutations that increase their risk for breast cancer.

Triple-negative breast cancer patients should undergo genetic screening

December 2, 2014
Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from ...

Recommended for you

Targeted antibiotic use may help cure chronic myeloid leukaemia

September 19, 2017
The antibiotic tigecycline, when used in combination with current treatment, may hold the key to eradicating chronic myeloid leukaemia (CML) cells, according to new research.

Brain powered: Increased physical activity among breast cancer survivors boosts cognition

September 19, 2017
It is estimated that up to 75 percent of breast cancer survivors experience problems with cognitive difficulties following treatments, perhaps lasting years. Currently, few science-based options are available to help. In ...

Researchers compose guidelines for handling CAR T cell side effects

September 19, 2017
Immune-cell based therapies opening a new frontier for cancer treatment carry unique, potentially lethal side effects that provide a new challenge for oncologists, one addressed by a team led by clinicians at The University ...

Bone marrow protein a 'magnet' for passing prostate cancer cells

September 19, 2017
Scientists at the University of York have shown that a protein in the bone marrow acts like a 'magnetic docking station' for prostate cancer cells, helping them grow and spread outside of the prostate.

Brain cancer breakthrough could provide better treatment

September 19, 2017
A new discovery about the most common type of childhood brain cancer could transform treatment for young patients by enabling doctors to give the most effective therapies.

A new paradigm for treating transcription factor-driven cancers

September 18, 2017
In the current issue of Proceedings of the National Academy of Sciences, researchers from Nationwide Children's Hospital describe a new paradigm for treating transcription factor-driven cancers. The study focuses on Ewing ...

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.