Navigation Links
Ph.D. thesis on 2 genes involved in hereditary breast and ovary cancer cases
Date:2/18/2011

This release is available in Spanish.

Between 5 % and 10 % of breast cancer cases are hereditary, arising because the patient inherits from the father or mother a mutation in a gene that is susceptible to causing the illness. BRCA1 and BRCA2 have already been identified as two of the genes to be monitored. It is estimated that 30 % of hereditary breast cancer cases are due to mutations in one of these two genes (which suggests, at the same time, that there are other genes involved, but exactly how is still unknown). In any case, few of the mutations found in BRCA1 and BRCA2 could be clearly identified as pathological. The fact is that the mutations found were numerous; their variation even depending on the population.

Biologist Elena Beristain has been investigating the CAPV-EAE population. Concretely, for her study she took 521 patients mainly from the Txagorritxu hospital in the Basque capital city of Vitoria-Gasteiz, and the Cruces hospital in Barakaldo, near Bilbao: 274 patients with breast or ovarian cancer (given that the latter is also associated with mutations in the BRCA1 and BRCA2 genes), 115 family relations of these, and another 132 women who acted as a control population. Ms Beristain molecularly characterised the BCRA1 y BCRA2 genes of these individuals; apart from the exon 10 of the CHEK2 gene, also associated with the illness. Her thesis was defended at the University of the Basque Country (UPV/EHU) and it is entitled, Genetic study amongst women resident in the CAPV-EAE with hereditary breast/ovary cancer.

Could rise to 12 %

According to the results shown, different types of variations in the genes under study have been found, including pathological ones, neutral ones and those of uncertain significance. As regards the clearly pathological mutations, the frequency is 10 %. Nevertheless, Ms Beristain stressed that, amongst those sporadic cases of under-40s, that is a especially rare condition: only in one case was a pathological mutation found. This is why she suggested discarding under-35s in this type of research, and in which case the result arrived at in her study rises from 10 % to 12 %. In any case, the percentages of pathological mutations found in this genetic study of the CAPV-EAE population turned out to be less than amongst other European populations.

The study has thrown up more data regarding age. For example, the percentages show that, for family-member carriers of mutation in the main genes under study, the accumulated risk of suffering breast cancer at 70 is 69 % for the BRCA1 and 67 % for the BRCA2. This means that penetration is not complete and there exists the possibility that this gene does not, in the end, express itself. As regards the data on gender, it is significant that masculine breast cancer is mainly associated with mutations in the BRCA2 gene.

Different mutations in the Autonomous Community of the Basque Country

The variability from population to population in mutations in general is also clear from the results of this thesis. Ms Beristain explained that a great number of alterations, hitherto unrecorded, have been found, and from this she concludes that many of the mutations found in the CAPV-EAE are different from those described for other populations. However, she explains, amongst these, no founder effect mutation was found, i.e. there has been no case of some, many or all Basque patients coming from a small population of individuals having transmitted this common genetic characteristic to all their descendents. However it may be, the new types of mutations found represent a contribution to the already existing variability.


'/>"/>

Contact: Amaia Portugal
a.portugal@elhuyar.com
34-943-363-040
Elhuyar Fundazioa
Source:Eurekalert

Related medicine news :

1. Savvy Mom TV™ Welcomes Dr. Cynthia R. Green, Ph.D. as their Brain Health Expert
2. Donald A. Deieso, Ph.D., Chairman & CEO, PeriGen, Inc. Named Ernst & Young Entrepreneur Of The Year 2010 Award Finalist
3. Differences between women and men with a primary psychotic episode analyzed in a Ph.D. thesis
4. NTU and A*STAR launch joint Ph.D. research program in immunology
5. AnaLisa DiFeo, Ph.D., recognized with the Liz Tilberis Scholarship
6. Ph.D. thesis shows why patients subjected to dialysis face their illness in different ways
7. Pier Paolo Pandolfi, M.D., Ph.D., to receive Pezcoller-AACR International Award for Cancer Research
8. Yosef Shiloh, Ph.D., receives the 51st Annual AACR G.H.A. Clowes Memorial Award
9. Susan Band Horwitz, Ph.D., receives AACR Award for Lifetime Achievement in Cancer Research
10. Susan Band Horwitz, Ph.D., of Einstein, receives lifetime achievement award in cancer research
11. 2010 AAAS Philip Hauge Abelson Award presented to the Honorable Rush Holt, Ph.D., for supporting science in Congress
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/28/2017)... ... ... The Radiology Business Management Association (RBMA) is pleased to announce ... process has been in place since the RBMA was founded in 1968 with all ... Jim Hamilton, MHA, CMM, FRBMA, as president. Dr. Dickerson the chief executive officer for ...
(Date:4/28/2017)... ... April 28, 2017 , ... ... and College of Urgent Care Medicine will host industry leaders for the annual ... will help those in the industry adapt to the issues currently affecting urgent ...
(Date:4/28/2017)... ... , ... Yisrayl Hawkins, Pastor and Overseer at The House of Yahweh in Abilene, Texas, has ... which He does not. Yisrayl says with so many titles and names for the ... he says with a little Scripture, backed with a lot of research, the truth is ...
(Date:4/28/2017)... (PRWEB) , ... April 28, 2017 , ... ... skincare and advanced nutraceutical supplements, through its Nova Skin Sciences division, recently ... hydrating benefits of a moisturizer with the power of an anti-aging concentrate. ...
(Date:4/28/2017)... ... 2017 , ... Christie Medical Holdings, Inc. , with its market-leading ... Medical Inc. , a leader in infusion therapy and pain management. , Intravenous ... percent of hospital patients receiving a peripheral IV catheter as part of their treatment ...
Breaking Medicine News(10 mins):
(Date:4/19/2017)... , Tenn. and DALLAS , April 19, ... Inc., announced that the first patients in ... EndoStim device in the Lower Esophageal Sphincter Stimulation for ... minimally-invasive implantable device designed to provide long-term reflux control ... GERD affects nearly 65 million people in ...
(Date:4/19/2017)... , April 19, 2017  Novartis today announced ... National Heart, Lung, and Blood Institute (NHLBI) of ... 58% of patients with treatment-na├»ve severe aplastic anemia ... treated with eltrombopag at the initiation of and ... study evaluated three sequential treatment groups, or cohorts. ...
(Date:4/18/2017)... 18, 2017 Research and Markets has announced ... report to their offering. ... global arthroscopy devices market to grow at a CAGR of 6.35% ... Devices Market 2017-2021, has been prepared based on an in-depth market ... landscape and its growth prospects over the coming years. The report ...
Breaking Medicine Technology: