Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Elisabeth Jarhelle"'
Autor:
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue
Publikováno v:
BMC Cancer, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background Damaging alterations in the BRCA1 gene have been extensively described as one of the main causes of hereditary breast and ovarian cancer (HBOC). BRCA1 alterations can lead to impaired homologous recombination repair (HRR) of doubl
Externí odkaz:
https://doaj.org/article/3cfc411134d040d8a50b6bbb38b22097
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
Autor:
Christoffer Jonsrud, Geir Åsmund Myge Hansen, Marijke Van Ghelue, Hilde Monica Frostad Riise Stensland, Siri Skarsfjord, Nina Strømsvik, Elisabeth Jarhelle, Monica Ingebrigtsen
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Families with breast and ovarian cancer are often tested for disease associated sequence variants in BRCA1 and BRCA2. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8c32e64986e163086a2e4c84ca7b494
https://hdl.handle.net/10037/17238
https://hdl.handle.net/10037/17238
Publikováno v:
Human Genomics
Human Genomics, Vol 12, Iss 1, Pp 1-13 (2018)
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
Manuscript. Published version available in Familial Cancer, Jan. 2017, vol. 16, issue 1, pp 1–16 Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8c88c4f8281b3a034554a3471726675
https://hdl.handle.net/10037/10579
https://hdl.handle.net/10037/10579