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| Title: | Mutations in BRIP1 confer high risk of ovarian cancer |
| Author(s): | Rafnar, T.
Gudbjartsson, D.F.
Sulem, P.
Jonasdottir, A.
Sigurdsson, A.
Besenbacher, S.
Lundin, P.
Stacey, S.N.
Gudmundsson, J.
Magnusson, O.T.
Roux, L. le
Orlygsdottir, G.
Helgadottir, H.T.
Johannsdottir, H.
Gylfason, A.
Tryggvadottir, L.
Jonasson, J.G.
Juan, A. de
Ortega, E.
Ramon-Cajal, J.M.
Garcia-Prats, M.D.
Mayordomo, C.
Panadero, A.
Rivera, F.
Aben, K.K.H. (217174302)
Altena, A.M. van (314429972)
Massuger, L.F.A.G. (086614665)
Aavikko, M.
Kujala, P.M.
Staff, S.
Aaltonen, L.A.
Olafsdottir, K.
Bjornsson, J.
Kong, A.
Salvarsdottir, A.
Saemundsson, H.
Olafsson, K.
Benediktsdottir, K.R.
Gulcher, J.
Masson, G.
Kiemeney, L.A.L.M. (105132063)
Mayordomo, J.I.
Thorsteinsdottir, U.
Stefansson, K. |
| Publication year: | 2011 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 43 |
| Issue: | iss. 11 |
| Start page: | p. 1104 |
| End page: | p. 1107 |
| Annotation: | Rafnar, Thorunn Gudbjartsson, Daniel F Sulem, Patrick Jonasdottir, Aslaug Sigurdsson, Asgeir Jonasdottir, Adalbjorg Besenbacher, Soren Lundin, Par Stacey, Simon N Gudmundsson, Julius Magnusson, Olafur T le Roux, Louise Orlygsdottir, Gudbjorg Helgadottir, Hafdis T Johannsdottir, Hrefna Gylfason, Arnaldur Tryggvadottir, Laufey Jonasson, Jon G de Juan, Ana Ortega, Eugenia Ramon-Cajal, Jose M Garcia-Prats, Maria D Mayordomo, Carlos Panadero, Angeles Rivera, Fernando Aben, Katja K H van Altena, Anne M Massuger, Leon F A G Aavikko, Mervi Kujala, Paula M Staff, Synnove Aaltonen, Lauri A Olafsdottir, Kristrun Bjornsson, Johannes Kong, Augustine Salvarsdottir, Anna Saemundsson, Hafsteinn Olafsson, Karl Benediktsdottir, Kristrun R Gulcher, Jeffrey Masson, Gisli Kiemeney, Lambertus A Mayordomo, Jose I Thorsteinsdottir, Unnur Stefansson, Kari United States Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955. |
| Abstract: | Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 x 10(-14)). The mutation was also associated with increased risk of cancer in general and reduced lifespan by 3.6 years. In a Spanish population, another frameshift mutation in BRIP1, c.1702_1703del, was seen in 2 out of 144 subjects with ovarian cancer and 1 out of 1,780 control subjects (P = 0.016). This allele was also associated with breast cancer (seen in 6/927 cases; P = 0.0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer. |
| Subject: | NCEBP 1: Molecular epidemiology
ONCOL 5: Aetiology, screening and detection
ONCOL 1: Hereditary cancer and cancer-related syndromes
ONCOL 3: Translational research
ONCOL 5: Aetiology, screening and detection
NCMLS 1B: Immune Regulation |
| Subject: | ONCOL 3: Translational research |
| Organization: | UMCN Extern
Epidemiology, Biostatistics & HTA
Obstetrics and Gynaecology |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/98125
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