Navigation Links
Identified as responsible for breast and ovarian hereditary cancer 3 mutations at BRCA1 gene
Date:4/18/2013

Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) and the Catalan Institute of Oncology (ICO) conducted a functional and structural study of seven missense variants of the BRCA1 gene concluding that three of these variants are pathogenic, linked to the risk of suffering breast or ovarian cancer. The study has been published in the journal PLoS One

The classification of these three variants will improve genetic counseling of patients and families who have these mutations and will serve to personalize the treatment.

Mutations in BRCA1 gene

Mutations in BRCA1 confer a high risk of developing breast or ovarian cancer. A woman carrying a mutation in this gene has a risk of developing breast cancer between 40% and 90% and of developing ovarian cancer between 20% and 70%.

According to the researcher Conxi Lzaro, "now we know a lot of genetic alterations in BRCA1 that are clearly pathogenic alterations, neutral alterations and sequence polymorphisms, but genetic diagnostic studies also identify changes in the DNA sequence which we don't know its biological significance."

For the researcher, finding out the biological consequences of these missense variants is "a technological challenge, not only in breast cancer but in the field of genetic diagnostics in general."

Study of seven missense variants

The study analyzes seven BRCA1 gene variants from a structural and functional standpoint. Structural analysis is a theoric-computational analysis and compares the three-dimensional structure of normal protein with the analyzed changes. The researchers conclude that three of the seven variants analyzed modify the structure of the protein.

"In the functional study," said the researcher, "we analyzed in vitro one of the key functions of BRCA1: regulation of transcription. The analysis involves the generation of mutants of all var
'/>"/>

Contact: Arantxa Mena
comunicacio@idibell.cat
34-932-607-129
IDIBELL-Bellvitge Biomedical Research Institute
Source:Eurekalert

Page: 1 2

Related biology news :

1. First genetic factor in prostate cancer prognosis identified
2. US company identified as manufacture of lead paint in Africa
3. Potential early indicator of kidney injury identified
4. 4 dinosaur egg species identified in Lleida
5. March of Dimes awards $250,000 to researcher who identified heart disease genes
6. Mechanisms regulating inflammation associated with type 2 diabetes, cancer identified
7. New type of gene that regulates tumor suppressor PTEN identified
8. Molecular basis identified for tissue specific immune regulation in the eye and kidney
9. Newly identified natural protein blocks HIV, other deadly viruses
10. New genes for short-sightedness identified
11. Triple-negative breast cancer subtypes identified using microRNA
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/29/2014)... in the living world compete with members of ... how much they invest into their competitive ability. ... get access to high-quality resources, while others seem ... the lower-quality resources that are left over for ... and human societies seems to fluctuate considerably over ...
(Date:10/29/2014)... study on a large cohort of kidney cancer patients ... the disease -- and reveals an apparent link between ... particularly in Romania. , The research, by an international ... Genome Quebec Innovation Centre in Montreal, underscores the importance ... The compound, found in plants of the Aristolochia genus, ...
(Date:10/28/2014)... North America, Europe and China have published a paper ... Sciences that reveals important details about key transitions ... From strange and exotic algae, mosses, ferns, trees and ... and vegetables we eat and the ornamental plants adorning ... a billion years of history., "Our study generated DNA ...
Breaking Biology News(10 mins):Evolution of competitiveness 2Evolution of competitiveness 3Study sheds light on genetic architecture of kidney cancer 2Study sheds light on genetic architecture of kidney cancer 3New study uses DNA sequences to look back in time at key events in plant evolution 2New study uses DNA sequences to look back in time at key events in plant evolution 3
... ability to pay attention to relevant information while ignoring ... to focus and filter out "noise," we could not ... attention in the brain, the cellular mechanisms responsible for ... now., In a study appearing in the journal ...
... Some of the top scientists in the nation, ... members, will make presentations at a University of Louisville-hosted ... Symposium: Anatomical and Functional Modularity of the Cerebral Cortex," ... Conference Center, 200 Abraham Flexner Way. Admission is free, ...
... Kuala Lumpur, Malaysia, St. Louis, MO and Cold Spring Harbor, NY-- ... Shell, that regulates yield of the oil palm tree. The fruit ... one-half of the supply of edible vegetable oil worldwide, and provide ... discovery, the product of a multiyear effort to provide a high-quality ...
Cached Biology News:Neuroscience symposium bringing top scientists to Louisville, Aug. 1-2 2Full genome map of oil palm indicates a way to raise yields and protect rainforest 2Full genome map of oil palm indicates a way to raise yields and protect rainforest 3
(Date:10/30/2014)... the key challenges in the development of quantum technologies ... In a paper published today (28 October) in ... how to make a new type of flexibly designed ... as high-precision sensors and specialised superfast computers, often depend ... methods for trapping these tiny particles are hugely problematic ...
(Date:10/27/2014)... and TORONTO , ... ( www.generex.com ) (OTCQB: GNBT) today announced two ... response triggered by its novel proprietary cancer immunotherapeutic ... in breast cancer patients. The AE37 cancer vaccine ... Antigen Express, Inc. ( www.antigenexpress.com ). The presentations ...
(Date:10/27/2014)... (PRWEB) October 27, 2014 The ... Management, Intelligent Traffic Management, Communication, Monitoring), and by ... Forecast to 2019” segments the global market into ... revenues. It also identifies the drivers and restraints ... and challenges. , Browse 75 market tables and ...
(Date:10/26/2014)... report "Protective Coatings Market by Resin Type, by Technology ... 2019", defines and segments the global protective coatings market ... generated. The protective coatings consumption is projected to grow ... 2019, at a CAGR of 9.52% during the same ... figures spread through 219 slides and in-depth TOC on ...
Breaking Biology Technology:Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 2Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 3Generex Announces Presentations Correlating Immunological Response with Reduced Recurrence in Phase II Study of AE37 Breast Cancer Vaccine in Patients at the American College of Surgeons 4Smart Highway Market by Technology, and Display Expected to Reach $27.992.0 Million by 2019- New Report by MarketsandMarkets 2Smart Highway Market by Technology, and Display Expected to Reach $27.992.0 Million by 2019- New Report by MarketsandMarkets 3Smart Highway Market by Technology, and Display Expected to Reach $27.992.0 Million by 2019- New Report by MarketsandMarkets 4Protective Coatings Market Poised to Reach $18,431.8 Million by 2019 - Report by MarketsandMarkets 2Protective Coatings Market Poised to Reach $18,431.8 Million by 2019 - Report by MarketsandMarkets 3Protective Coatings Market Poised to Reach $18,431.8 Million by 2019 - Report by MarketsandMarkets 4
... expressing green fluorescent protein (GFP) in their retina cells ... video cameras, creating a real time computer record of ... the open access journal BMC Biotechnology , will ... and aging. , John Tower led a team of ...
... for Equipment and Service Excellence at the 54th Annual ... , IRVINE, Calif., Dec. 16 Masimo ... CO-Oximetry and Measure-Through-Motion and Low-Perfusion pulse oximetry, announced that ... notification system, Masimo Patient SafetyNet, was featured in a ...
... , - BiomarkerCenter of Excellence Established in ... 16 /PRNewswire-FirstCall/ -- Covance Inc. (NYSE: ... that it has purchased a minority equity stake in Caprion Proteomics, ... further enhance its biomarker service offerings to clients. , ...
Cached Biology Technology:AARC Presentation Cites Masimo Patient SafetyNet as Key Factor in 'Improving Patient Outcomes and Reducing Costs' in Post-Acute Care Facilities 2AARC Presentation Cites Masimo Patient SafetyNet as Key Factor in 'Improving Patient Outcomes and Reducing Costs' in Post-Acute Care Facilities 3AARC Presentation Cites Masimo Patient SafetyNet as Key Factor in 'Improving Patient Outcomes and Reducing Costs' in Post-Acute Care Facilities 4AARC Presentation Cites Masimo Patient SafetyNet as Key Factor in 'Improving Patient Outcomes and Reducing Costs' in Post-Acute Care Facilities 5Covance Purchases Equity Stake in Caprion Proteomics 2Covance Purchases Equity Stake in Caprion Proteomics 3Covance Purchases Equity Stake in Caprion Proteomics 4Covance Purchases Equity Stake in Caprion Proteomics 5
...
Request Info...
Purified Mouse anti-Hu LAT (pY226) Storage Temperature: Refrigerate(2 to 8C)...
Molecular Biology grade. Ideally suited for DNA and RNA separation and recovery. High gel strength. Gelling temp. 36C. Melting temp. 88C. EEO: 0.05-0.13 Resolution 0.2-40 kb; Rnase/Dnase: none detec...
Biology Products: