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:5/4/2016)... ... May 04, 2016 , ... Nike Rugby Camp's success is due ... Diego. Willis, founder of Elite Rugby Camps and current Nike Camp director, has offered ... since 2009. , ā€œIā€™m excited for our eighth summer here in San Diego,ā€ ...
(Date:5/4/2016)... ... ... Washington Wellness Center today announced its tenth anniversary of providing a complete approach to ... idea to provide a holistic approach to wellness has now become a growing trend ... Chiropractic Physician , the wellness center offers a complete range of services such ...
(Date:5/4/2016)... Watsonville, California (PRWEB) , ... May 04, 2016 ... ... powerful formulation of foundational nutrients that supports cellular and metabolic health. This synergistic ... and 400 mg free-form curcumin, along with 150 mg of reduced glutathione and ...
(Date:5/4/2016)... ... 04, 2016 , ... The preeminent surgical aftercare facility Pearl Recovery Retreat was ... surgery. In March 2016, the 61-year-old model and reality TV star was diagnosed with ... the milk ducts, according to an interview with the Daily Mail Online . ...
(Date:5/4/2016)... ... May 04, 2016 , ... Warren L. Smith M.D. , There ... UTIs, have plagued people since the beginning of recorded medical history, and in ... every year. It's not just a matter of inconvenience; bladder infections cost us billions ...
Breaking Medicine News(10 mins):
(Date:5/2/2016)... Leading Economies with Fastest Real GDP Annual Percentage Change, 2015  ... India 7.3, , Source: IMF and TechSci Research   ... Brazil , Russia , India ... registered the fastest GDP growth during the first decade of the 21 st ... Brazil and Russia , along with ...
(Date:5/2/2016)...  While nearly three-quarters of Americans (71%) are aware ... health, only about half report taking any steps to ... a new survey announced today by Hologic (Nasdaq: ... Osteoporosis Month, Hologic is raising awareness of this major ... Americans. Osteoporosis is a disease that causes ...
(Date:5/2/2016)... The global  ultrasound device ... by 2024, according to a new report published ... the sonography market include expanding applications of the ... periodic ultrasound screenings of the breast for breast ... ) High Intensity Focused Ultrasound (HIFU) ...
Breaking Medicine Technology: