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:3/24/2015)... --Research and Markets ( http://www.researchandmarkets.com/research/kvdtcw/face_and_voice ) has announced the ... Business Report" report to their offering. This report ... Thousands by the following Segments: Face Biometrics, and Voice Biometrics. The ... , Japan , Europe ... & Africa , and Latin ...
(Date:3/23/2015)... , March 23, 2015 SoundView Technology Group ... NXT-ID,s (NASDAQ: NXTD ) Wocket smart wallet. SoundView was one ... feedback on their experience with the Wocket in multiple scenarios ... CVS, Whole Foods and other retailers, making both debit and ... Tuttle also says, "If the company meets their plans ...
(Date:3/23/2015)... , Mar. 23, 2015 NXT-ID, Inc. (NASDAQ: ... focused on the growing mobile commerce market, announces its biometric ... advertising campaign on CNBC television starting March 30 th ... commence airing in New York markets. ... said: "We are excited about our new ad campaign following ...
Breaking Biology News(10 mins):Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 2Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 3Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 4Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 5Face and Voice Biometrics - Global Strategic Business Report 2015: Face Recognition Gains Prominence in Immigration Control 6Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 2Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 3Technology Research Note Update from SoundView; Real-World Usage and Feedback of Wocket Smart Wallet at CVS, Whole Foods and other Retailers 4NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 2NXT-ID's Wocket Smart Wallet to Launch New CNBC Regional TV Ad Campaign 3
... Six scientists from the Department of Energy,s ... of the American Association for the Advancement of ... and apply it to real-world problems., The PNNL ... are: Leonard Bond, engineering; Liem Dang, chemistry; Csar ...
... eating vegetables gives you a healthy tan. The study, led by ... a healthy diet rich in fruit and vegetables gives you a ... showed that instead of heading for the sun the best way ... been published in the journal Evolution and Human Behaviour . ...
... Iowa Nine researchers from Iowa State University two ... Energy,s Ames Laboratory have been named fellows of the ... The new AAAS fellows and their award citations are: ... and Marylyne Munas Mehl Professor of Computer Engineering, "For distinguished ...
Cached Biology News:6 PNNL scientists elected 2010 AAAS Fellows 26 PNNL scientists elected 2010 AAAS Fellows 36 PNNL scientists elected 2010 AAAS Fellows 4Looking good on greens 2AAAS honors Iowa State, Ames Lab researchers for distinguished science 2
(Date:3/31/2015)... Campbell, California (PRWEB) March 31, 2015 ... management consulting firm with operations in California, Oregon, ... formal launch of its Merger and Acquisition (M&A) ... , Peter Adams, VP Client Services and M&A ... repeatedly shown that the vast majority of M&A ...
(Date:3/30/2015)... Calif. , March 30, 2015  NuGene ... its subsidiary corporation, NuGene BioPharma, Inc. has added ... Dr. Guan is an internationally recognized ... finishing his college education at Peking University, ... Ph.D. degree from the University of North Carolina, ...
(Date:3/30/2015)...    Intrexon Corporation (NYSE: XON ... Serono, the biopharmaceutical business of Merck KGaA, Darmstadt, ... exclusive strategic collaboration and license agreement to develop ... therapies. This collaboration advances Merck Serono,s comprehensive, science-driven ... immune system,s natural ability to fight tumors. ...
(Date:3/30/2015)... , March 30, 2015 ... auf    Richmond Pharmacology ist das erste ... Amyloidose-Zentrum am Royal Free Hospital in ... zur Untersuchung eines RNAi-Therapeutikums Studienversuche an einem Patienten ... von Transthyretin vermittelter Amyloidose entwickelt (ATTR), einer seltenen ...
Breaking Biology Technology:Lighthouse Information Systems, Inc., Announces Addition of M&A Integration Services 2UCI Professor Zhibin Guan Joins NuGene Advisory Board 2UCI Professor Zhibin Guan Joins NuGene Advisory Board 3Intrexon and Merck Serono Announce Agreement for the Development and Commercialization of CAR-T Therapy 2Intrexon and Merck Serono Announce Agreement for the Development and Commercialization of CAR-T Therapy 3Intrexon and Merck Serono Announce Agreement for the Development and Commercialization of CAR-T Therapy 4
... increasing evidence that, with best intent, current biological technology ... populations, with vaccines against emerging diseases at a rate ... change, e.g., before the disease has come and gone. ... synthesized vaccines produced in seven days can be effective, ...
... Acquisition Strengthens Gene Centric Product Portfolio , ROCKVILLE, Md., ... acquisition of Marligen Biosciences, Inc., a provider of cutting-edge ... protein and gene expression profiling assays and testing services, ... reinforces OriGene,s leading position in the bio-medical research industry ...
... , CLINTON, N.J., Oct. 19 Ikaria Holdings, Inc. today ... the board. Current Ikaria CEO Daniel Tasse has been ... as Chairman since 2007. , Shaw was a ... that was formed in 2005, and was instrumental in combining ...
Cached Biology Technology:New Non-Biological Synthetic Replikins(TM) Vaccines Shown to Be Effective and Fast; WorldVaccines(TM), Ltd Formed for Testing and Distribution 2New Non-Biological Synthetic Replikins(TM) Vaccines Shown to Be Effective and Fast; WorldVaccines(TM), Ltd Formed for Testing and Distribution 3OriGene Technologies Acquires Marligen Biosciences 2Ikaria(R) Names New Chairman 2
Mouse monoclonal antibody to QDPR - quinoid dihydropteridine reductase...
... Signets FAST RED Chromogen System consists of ... RED reacts in the presence of alkaline ... background noise. The FAST RED System ... ,The System Contains: , , Vial A: ...
The BioLogic Maximizer mixer is for use with the Maximizer valve system. The mixer improves gradient quality by mixing the output of the BioLogic DuoFlow workstation pumps....
... effectively in tubes and 96 well plates. microCLEAN ... one and a half spin DNA cleanup reagent. ... concentrate any type of double stranded DNA, efficiently ... dNTPs (labelled or unlabelled). It is therefore ideally ...
Biology Products: