Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues
Like other cancer types, breast cancer is considered to be a genetic disease. While the majority of genetic changes are somatic, a minority are in germline. About 10-20% of breast cancer is thought to be due to a germline mutation in high-penetrance genes, where the major focus has been on BRCA1 and...
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ftskemman:oai:skemman.is:1946/20517 2023-05-15T16:49:54+02:00 Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues Sigurður Ingvarsson 1956- Háskóli Íslands 2008 application/pdf http://hdl.handle.net/1946/20517 en eng http://benthamopen.com/ABSTRACT/TOCJ-2-25 https://www.researchgate.net/publication/244932255_Population_Approach_in_Breast_Cancer_Research_Based_on_Integration_of_Genetic_Clinicopathological_and_Genealogical_Clues The Open Cancer Journal 2008, 2, 25-30 1874-0790 http://hdl.handle.net/1946/20517 Brjóstakrabbamein Article 2008 ftskemman 2022-12-11T06:55:54Z Like other cancer types, breast cancer is considered to be a genetic disease. While the majority of genetic changes are somatic, a minority are in germline. About 10-20% of breast cancer is thought to be due to a germline mutation in high-penetrance genes, where the major focus has been on BRCA1 and BRCA2. Some of these mutations are defined as founder mutations. Studies on founder mutations yield important information, mainly due to a large number of available carriers with the same mutation, regarding penetrance, expression, genetic modifiers or low-penetrant genes and influence from the environment. Population studies are also valuable due the possibilities for evaluating clinicopathological data in a group of patients who have the same mutation. In Iceland a rare founder mutation has been detected in BRCA1, and a frequent founder mutation has been detected in BRCA2. In addition to population-based studies on genetics and clinicopathology, an extensive analysis of somatic changes in tumours of BRCA2 founder mutation carriers has been made. Article in Journal/Newspaper Iceland Skemman (Iceland) |
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Brjóstakrabbamein |
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Brjóstakrabbamein Sigurður Ingvarsson 1956- Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
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Brjóstakrabbamein |
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Like other cancer types, breast cancer is considered to be a genetic disease. While the majority of genetic changes are somatic, a minority are in germline. About 10-20% of breast cancer is thought to be due to a germline mutation in high-penetrance genes, where the major focus has been on BRCA1 and BRCA2. Some of these mutations are defined as founder mutations. Studies on founder mutations yield important information, mainly due to a large number of available carriers with the same mutation, regarding penetrance, expression, genetic modifiers or low-penetrant genes and influence from the environment. Population studies are also valuable due the possibilities for evaluating clinicopathological data in a group of patients who have the same mutation. In Iceland a rare founder mutation has been detected in BRCA1, and a frequent founder mutation has been detected in BRCA2. In addition to population-based studies on genetics and clinicopathology, an extensive analysis of somatic changes in tumours of BRCA2 founder mutation carriers has been made. |
author2 |
Háskóli Íslands |
format |
Article in Journal/Newspaper |
author |
Sigurður Ingvarsson 1956- |
author_facet |
Sigurður Ingvarsson 1956- |
author_sort |
Sigurður Ingvarsson 1956- |
title |
Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
title_short |
Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
title_full |
Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
title_fullStr |
Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
title_full_unstemmed |
Population Approach in Breast Cancer Research Based on Integration of Genetic, Clinicopathological and Genealogical Clues |
title_sort |
population approach in breast cancer research based on integration of genetic, clinicopathological and genealogical clues |
publishDate |
2008 |
url |
http://hdl.handle.net/1946/20517 |
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Iceland |
genre_facet |
Iceland |
op_relation |
http://benthamopen.com/ABSTRACT/TOCJ-2-25 https://www.researchgate.net/publication/244932255_Population_Approach_in_Breast_Cancer_Research_Based_on_Integration_of_Genetic_Clinicopathological_and_Genealogical_Clues The Open Cancer Journal 2008, 2, 25-30 1874-0790 http://hdl.handle.net/1946/20517 |
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1766040081879007232 |