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- Bergman, Annika, et al.
(författare)
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A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques
- 2005
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Ingår i: Familial Cancer. - : Springer. - 1389-9600 .- 1573-7292. ; 4:2, s. 89-96
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Tidskriftsartikel (refereegranskat)abstract
- Dominant inheritance is presumed in 6-10% of breast and ovarian cancers. Mutations in BRCA1 and BRCA2 genes are the most commonly identified causative genes in such families. The frequency of mutation carriers with breast/ovarian cancer depends on the population studied, and display considerable variation that coincides with ethnic and geographical diversity. Mutation analyses were performed in 143 families registered at the Cancer Genetic Counseling Clinic of western Sweden. In a thorough mutation screening procedure, the entire BRCA1 and BRCA2 genes were analyzed using a combination of complementary mutation detection techniques. Mutations in either BRCA1 or BRCA2 were detected in 36% (52 out of 143) of all screened families. All families were clinically evaluated regarding age at diagnosis, type of cancer and number of cancer cases in the family. Among high-risk families, the mutation detection rate was 39% (46 out of 117). The detection rate observed among families with cases of ovarian cancer (42 out of 62, 68%), was substantially higher than in families with only breast cancer (10 out of 81, 12%). Age at ovarian cancer did not seem to have an effect on the detection rate. The analyses revealed 11 frameshift mutations, 4 nonsense mutations and 2 large deletions. Notably, the BRCA1 c.3171ins5 mutation accounted for 34 of 52 (65%) identified mutations. Seven mutations are novel: BRCA1c.409_410del; c.1912T>G; c.2228_2229del; c.3029delA; c.3433delA, a large deletion covering exons 1-3 of BRCA1and one BRCA2 mutation; BRCA2c.6287_6290del. We have shown that the founder mutation BRCA1 c.3171ins5 has a great influence on western Swedish breast/ovarian cancer families along with a high number of mutations unique for the region. In order to achieve a high mutation detection rate we suggest a combination of several detection techniques.
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- Bergman, Kerstin, et al.
(författare)
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Images of memory: Depictions of the amnesiac flashback, exemplified by The Bourne Identity x 3
- 2005
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Ingår i: Literature and Visual Culture. - 9979546697 ; , s. 409-416
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- In old mnemonic systems, like the Memory Palaces (Ricci) and the Memory Circles (Llull), the general purpose is to organize and preserve the images of memory over time. However, in contemporary discussions of memory taking place within the field of trauma studies (Leys, Laub, Feldman, Caruth, van der Kolk), the focus is on the forgotten, and on understanding why we do not remember traumatic events. The aim there is not the preservation of images, but the detection of methods for developing and processing these “hidden” images. Theories of the preservative mnemonic systems always stress the visual aspects of memory; the images. When dealing with theories about traumatic memories though, the other four senses are considered to be at least as important. For depicting traumatic memories within the arts today, the medium per preferance is definitely film. The concept of using flashbacks to show the return of lost memories has turned out to be a perfect tool in film narration. Within the field of trauma studies, the concept of the flashback is still controversial though, and in the last decade there have been just as many scholars questioning this concept, as defending it. However, the concept seems to have been completely accepted among filmmakers due to its advantages in narrating stories on film. With this in mind, my paper will discuss how the functions of memory are represented in literature and film today as well as how these representations relate to both new and older theories of memory. This will be done by analyzing and comparing film adaptations of contemporary fiction, mainly Swedish and American, to the literary novels from which they were adapted. The question of whether the concept of flashbacks is as popular in literature as on film will be addressed and I will show which theories of memory are predominant in literature. The old mnemonic systems, just like the modern theories of memory, alternate between static models and models embracing an element of change. These aspects, and the function of the senses in the mnemonic process, will be the focal point of my paper. This study is part of my current research project on the depiction and function of sense perceptions in contemporary literature and film.
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- Bergman, Kerstin
(författare)
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Invasion of the Clones
- 2006
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Ingår i: The Scientist: Magazine of the Life Sciences (online). ; :August 3, 2006
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Tidskriftsartikel (populärvet., debatt m.m.)abstract
- "Kerstin Bergman, a researcher at Lund University, Sweden, discusses how positive images of human clones are infiltrating our entertainment media and slowly shifting our perception."
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