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:7/10/2014)... household items such as washing machines could hold the ... study has claimed., As part of an EPSRC research ... those from the University of Exeter, have shown how ... in the natural world to help restock declining populations., ... essence a built-in feedback control mechanism to maintain a ...
(Date:7/10/2014)... ANN ARBOR Because the strong currents in the ... rupture of the oil pipeline beneath the channel would ... and Huron, according to a new University of Michigan ... one scenario examined in the study and accompanying animations, ... and Round Island after 12 hours and Bois Blanc ...
(Date:7/10/2014)... some patients, the chronic inflammatory skin diseases psoriasis* and ... have therefore had to base their decision on which ... an examination of tissue samples. A team of researchers ... of Munich (TUM) have now analyzed the molecular processes ... This has enabled them for the first time to ...
Breaking Biology News(10 mins):Feedback control could be key to robust conservation management 2Straits of Mackinac 'worst possible place' for a Great Lakes oil spill 2Straits of Mackinac 'worst possible place' for a Great Lakes oil spill 3New diagnostic test to distinguish psoriasis from eczema 2
... Mankind's closest living relatives-the world's apes, monkeys, lemurs ... some could soon disappear forever, according to a ... of IUCN-The World Conservation Union's Species Survival Commission ... collaboration with Conservation International (CI). , Primates in ...
... Human Genome Research Institute (NHGRI), one of the ... the Large-Scale Sequencing Research Network will begin sequencing ... a skate and several important insects, as part ... the human genome. , The National Advisory Council ...
... with HIV-1 engage a primitive defense mechanism that ... The research also reveals exactly how HIV-1 successfully ... cells. However, elucidation of the mechanism HIV-1 uses ... a potential vulnerability within the HIV-1 molecule. Identification ...
Cached Biology News:Primates on the brink 2Primates on the brink 3Primates on the brink 4NHGRI targets 12 more organisms for genome sequencing 2NHGRI targets 12 more organisms for genome sequencing 3NHGRI targets 12 more organisms for genome sequencing 4NHGRI targets 12 more organisms for genome sequencing 5Ancient immune defense mechanism is no match for HIV-1 2
(Date:1/15/2014)... ON (PRWEB) January 15, 2014 AudioNotch ... experimental new therapy for the treatment of tinnitus. Patients ... tinnitus frequency, and over a period of weeks to months, ... Sound Therapy in two forms: Notched Music and Notched White ...
(Date:1/14/2014)... 14, 2014  3D Communications, a leading provider of strategic communications services ... media events in the United States and ... Virginia Cox , JD, is returning to the firm,s ... re-joins 3D after more than two years of service as Associate ...
(Date:1/14/2014)... iLab Solutions, the leader in core facility ... of Product Strategy. In this role, Michelle will work with ... guide in the development of iLab products. Her main goal ... benefit to the scientific community by offering the most advanced, ...
(Date:1/14/2014)... Bellingham, Washington, USA, and Cardiff, UK (PRWEB) January 13, ... and photonics technology development leader with more than 20 ... international society for optics and photonics . Hainsey will ... “We are delighted to have Dr. Hainsey join SPIE ...
Breaking Biology Technology:Former FDA Associate Commissioner Returns To 3D Communications 2iLab Solutions Announces Michelle Detwiler as the New Director of Product Strategy 2Photonics R&D Leader Bob Hainsey Joins SPIE Technical Staff 2
... 15-day tour of some of Australia and New Zealands hottest ... unlike in the States, where the Web 2.0 movement has ... captivated by the same frenzy. Indeed, of the nearly 50 ... tech venues of the region, only two companies specifically addressed ...
... decision by the United States Patent and Trademark Office ... Alumni Research Foundation expects the office to review its ... relations manager for WARF, said the foundation remains confident in ... a review is likely. , ,"Ninety-five percent of the ...
... Most effective search engine optimization (SEO) tactics have one ... used by customers and incorporating them into a web ... ranking. , ,Obtaining a desirable search engine ranking requires ... related to your website's industry or topic. A good ...
Cached Biology Technology:Start-ups "down under" not captivated by Web 2.0 2Start-ups "down under" not captivated by Web 2.0 3WARF expects review of stem cell patents 2WARF expects review of stem cell patents 3Search engine optimization: What's the word? 2Search engine optimization: What's the word? 3
Alkaline Phosphatase (E. coli C75), 100 units. Removes 5'-phosphates from DNA. Category: Nucleotides & Enzymes & Biochemicals, Modifying Enzymes, Alkaline Phosphatases....
... CyScribe First-Strand cDNA Labeling System - ... 50 reactions. For the generation and ... reagents are packaged together for complete ... protocols can be used for performing ...
... Post-Labeling Reactive Dye Pack, 12 x ... specifically optimized for microarray labeling.Higher reactivity ... reactive dye per vial, at > ... individually dispensed, and packed in foil ...
... CyScribe GFX Purification Kit, 24 reactions. ... Cy3- and Cy5-labeled cDNA.Optimized reagents are ... and purification.Flexible and optimized protocols can ... with either Cy3- or Cy5-labeled nucleotides.Reliable ...
Biology Products: