Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Breast cancer patients with BRCA gene diagnosed almost 8 years earlier than generation before

12.09.2011
Findings could potentially impact counseling, screening of women with BRCA mutation

Women with a deleterious gene mutation are diagnosed with breast cancer almost eight years earlier than relatives of the previous generation who also had the disease and/or ovarian cancer, according to new research from The University of Texas MD Anderson Cancer Center.

The findings, published online in Cancer and updated since first presented at the 2009 Breast Cancer Symposium, could have an impact on how women at highest risk for the disease are counseled and even screened in the future, explained Jennifer Litton, M.D., assistant professor in MD Anderson's Department of Breast Medical Oncology.

"In our practice, we've noticed that women with a known deleterious BRCA gene mutation are being diagnosed earlier with the disease than their moms or aunts," said Litton, the study's first author. "With this study, we looked at women who had been both treated and had their BRCA testing at MD Anderson to determine if what we were seeing anecdotally was consistent scientifically, a phenomenon known as anticipation."

It's estimated that five to 10 percent of all breast cancers are associated with either the BRCA1 or 2 mutation, both of which are associated with an increased risk for breast and ovarian cancers. According to the American Cancer Society (ACS), women with BRCA1 or 2 have a 60 percent lifetime risk of developing breast cancer, compared to a 12 percent risk for women in the general population.

Given their greater risk, women with known BRCA mutations and/or whose mothers and/or aunts from either side of the family have the mutation are screened beginning at age 25. In 2007, as a complement to mammography, ACS guidelines added Magnetic Resonance Imaging (MRI) in the surveillance of these women at highest risk, as MRI is thought to catch smaller tumors even earlier. Consideration of prophylactic mastectomies is also a component of their surveillance, said Litton.

"Currently, BRCA positive women are counseled to start screening by 25 years, or five to ten years earlier than their youngest affected family member. However, our findings show that we may need to continue to follow these trends with future generations, and make changes accordingly in order to best advise and care for women at greatest risk," Litton said.

For the retrospective study, the researchers identified 132 BRCA positive women with breast cancer who participated in a high-risk protocol through MD Anderson's Clinical Cancer Genetics Program between 2003 and 2009. Reviewing each woman's pedigree (family tree), 106 were found to have a female family member in the previous generation who also had a BRCA-related cancer, either breast or ovarian. Age at diagnosis, location of mutation and birth year were recorded in both the older (gen1) and younger (gen2) women.

The study found that in gen2, the median age of diagnosis was 42, compared to age 48 in gen1. In comparing generations within a family, the median difference was six years. By using new mathematical models to evaluate for anticipation, the difference in age between generations was 7.9 years.

"These findings are certainly concerning and could have implications on the screening and genetic counseling of these women," Litton said. "In BRCA positive women with breast cancer, we actually might be seeing true anticipation -- the phenotype or cancer coming out earlier per generation. This suggests more than the mutation could be involved, perhaps lifestyle and environmental factors are also coming into play."

The research reconfirms that women with BRCA mutations should continue to be screened per the guidelines - mammography, MRI and consideration of prophylactic surgeries - yet perhaps with increased suspicion and even at an earlier age, said Litton, who notes that the addition of MRI screening may account for some of the change in diagnosis seen in the study.

Further analysis is needed given the relatively small number of women in the cohort and the possibility of recall bias, as the gen2 women were providing their family histories, Litton explained. As follow up study, Litton plans to look into biological basis for potential earlier diagnosis.

The study was funded by the Nellie B. Connally Breast Cancer Research Fund.

In addition to Litton, other authors on the all-MD Anderson study include: Gabriel Hortobagyi, M.D. chair; Banu Arun, M.D., the study's senior author; Ana Maria Gonzalez-Angulo, M.D., Kaylene Ready; Angelica Gutierrez Barrera; Huiqin Chen, all of the Department of Breast Medical Oncology; Funda Meric-Bernstam, M.D., Department of Surgery; Karen Lu, M.D., Department of Gynecologic Oncology; Carol Etzel, Ph.D., Department of Epidemiology; and Huong Le-Petross, M.D., Department of Diagnostic Radiology.

Laura Sussman | EurekAlert!
Further information:
http://www.mdanderson.org

Further reports about: ACS BRCA BRCA1 Cancer MRI Medical Wellness Oncology breast cancer gene mutation ovarian cancer

More articles from Life Sciences:

nachricht Hunting pathogens at full force
22.03.2017 | Helmholtz-Zentrum für Infektionsforschung

nachricht A 155 carat diamond with 92 mm diameter
22.03.2017 | Universität Augsburg

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Giant Magnetic Fields in the Universe

Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.

The results will be published on March 22 in the journal „Astronomy & Astrophysics“.

Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...

Im Focus: Tracing down linear ubiquitination

Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.

Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...

Im Focus: Perovskite edges can be tuned for optoelectronic performance

Layered 2D material improves efficiency for solar cells and LEDs

In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...

Im Focus: Polymer-coated silicon nanosheets as alternative to graphene: A perfect team for nanoelectronics

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.

Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...

Im Focus: Researchers Imitate Molecular Crowding in Cells

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.

Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

International Land Use Symposium ILUS 2017: Call for Abstracts and Registration open

20.03.2017 | Event News

CONNECT 2017: International congress on connective tissue

14.03.2017 | Event News

ICTM Conference: Turbine Construction between Big Data and Additive Manufacturing

07.03.2017 | Event News

 
Latest News

Pulverizing electronic waste is green, clean -- and cold

22.03.2017 | Materials Sciences

Astronomers hazard a ride in a 'drifting carousel' to understand pulsating stars

22.03.2017 | Physics and Astronomy

New gel-like coating beefs up the performance of lithium-sulfur batteries

22.03.2017 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>