Zobrazeno 1 - 10 of 16 pro vyhledávání: '"Sarah Louise Ariansen"'
1
Akademický článek
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations
Autor: Teresia Wangensteen, Caroline Nangota Felde, Deeqa Ahmed, Lovise Mæhle, Sarah Louise Ariansen
Publikováno v: Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-8 (2019)
Abstract Background Pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Screening of these genes has become easily accessible in diagnostic laboratories. Sequencing and copy number analyses are used to detect pathogenic
Externí odkaz: https://doaj.org/article/d7e72994ac3b468cb0e5e50b7ae3fab3
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2
Akademický článek
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Autor: Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, Sarah Louise Ariansen, Nina Iversen
Publikováno v: Human Genomics, Vol 12, Iss 1, Pp 1-13 (2018)
Abstract Background Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protein functionality of
Externí odkaz: https://doaj.org/article/75838fdb553a4de2a0d3394804b44b21
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3
Akademický článek
BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway
Autor: Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Publikováno v: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-15 (2018)
Abstract Background Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ance
Externí odkaz: https://doaj.org/article/d3a226a1f36d4c3382ea0d839e580c08
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4
Akademický článek
Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers
Autor: Eli Marie Grindedal, Cecilie Heramb, Inga Karsrud, Sarah Louise Ariansen, Lovise Mæhle, Dag Erik Undlien, Jan Norum, Ellen Schlichting
Publikováno v: BMC Cancer, Vol 17, Iss 1, Pp 1-13 (2017)
Abstract Background Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is
Externí odkaz: https://doaj.org/article/102fe45725d84666939a973ce940dd1f
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5
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
Autor: Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Marijke Van Ghelue, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal
Publikováno v: Genes
Volume 14
Issue 2
Pages: 262
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). The BRCA1 protein is implicated in numerous important cellular pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb910324b4c9e7f227f6fa8185b8c119
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8
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?
Autor: Adrien Buisson, Tone Bøe Aaman Vamre, Cathrine Bjorvatn, Torunn Fiskerstrand, Sarah Louise Ariansen, Elisabet Ognedal, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Gunnar Houge, Geir Egil Eide, Jacqueline M. Hoover, Per M. Knappskog
Publikováno v: European Journal of Human Genetics
Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to determine the pathogenicity of th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a9358e6cbed8d42224653a26e6fa89
https://hdl.handle.net/1956/22137
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9
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Autor: Sarah Louise Ariansen, Jonas Langerud, Marijke Van Ghelue, Elisabeth Jarhelle, Nina Iversen
Publikováno v: Human Genomics
Human Genomics, Vol 12, Iss 1, Pp 1-13 (2018)
Background Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protein functionality often remai
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dff5e06f0007fb52a105e551ef64c90
http://europepmc.org/articles/PMC6247502
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10
BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway
Autor: Teresia Wangensteen, Ketil Heimdal, Cecilie Heramb, Sarah Louise Ariansen, Lovise Maehle, Sheba M. Lothe, Eli Marie Grindedal
Publikováno v: Hereditary Cancer in Clinical Practice, Vol 16, Iss 1, Pp 1-15 (2018)
Hereditary Cancer in Clinical Practice
Background Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68321b34363fc29aba7549d85e37e167
https://doi.org/10.1186/s13053-017-0085-6
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