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Felaktig alternativ splicing: Vissa mutationer i BRCA1, BRCA2, ERα och ERβ är starkt förknippade med bröstcancer
Linköping University, Department of Physics, Chemistry and Biology.
2011 (Swedish)Independent thesis Basic level (degree of Bachelor), 10,5 credits / 16 HE creditsStudent thesis
Abstract [en]

Alternative splicing is a process that partly rejects the common definition of a gene – that one gene codes for one specific protein. By variable combination of coding regions (exons) and exclusion of non-coding regions (introns), formation of several different mRNA-transcripts, and consequently several different proteins, can derive from the same gene. Alternative splicing is an important condition for the development of complex life forms, but it is also a highly sensitive process and inaccurate splicing is the cause of approximately 15 % of mutations that cause genetic diseases. This article presents four genes, BRCA1, BRCA2, ERα and ERβ, and inaccurate splicing of these genes increases the risk of developing cancer, particularly breast cancer and ovarian cancer. Breast cancer is the second most common form of lethal cancer among women. After identifying the cancerogenic mutations, women of high-risk families can undergo genetic testing and preventive therapy can reduce the morbidity and mortality. The article also presents a short discussion around the ethical problems of genetic testing, and the social and psychological dilemmas women of high-risk families are facing when they are given the option to undergo genetic testing.

Place, publisher, year, edition, pages
2011. , 22 p.
Keyword [en]
Alternative Splicing, BRCA1, BRCA2, Breast Cancer, ERα, ERβ
Keyword [sv]
Alternativ splicing, BRCA1, BRCA2, Bröstcancer, ERα, ERβ
National Category
Biochemistry and Molecular Biology
URN: urn:nbn:se:liu:diva-69551ISRN: LITH-IFM-G-EX--11/2500—SEOAI: diva2:428844
Subject / course
Life Earth Science
Available from: 2011-07-01 Created: 2011-07-01 Last updated: 2011-07-01Bibliographically approved

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