Mutations in BRIP1 confer high risk of ovarian cancer

Nature Genetics

Volumn 43, Issue 11, 2011, Pages 1104-1107

  Rafnar, Thorunn ^a   Gudbjartsson, Daniel F ^a   Sulem, Patrick ^a   Jonasdottir, Aslaug ^a   Sigurdsson, Asgeir ^a   Jonasdottir, Adalbjorg ^a   Besenbacher, Soren ^a   Lundin, Pär ^a   Stacey, Simon N ^a   Gudmundsson, Julius ^a   Magnusson, Olafur T ^a   Le Roux, Louise ^a   Orlygsdottir, Gudbjorg ^a   Helgadottir, Hafdis T ^a   Johannsdottir, Hrefna ^a   Gylfason, Arnaldur ^a   Tryggvadottir, Laufey ^b,c   Jonasson, Jon G ^b,c   De Juan, Ana ^d   Ortega, Eugenia ^e   Ramon Cajal, Jose M ^f   García Prats, Maria D ^g   Mayordomo, Carlos ^h   Panadero, Angeles ⁱ   Rivera, Fernando ^d   Aben, Katja K H ^j,k   Van Altena, Anne M ^k   Massuger, Leon F A G ^k   Aavikko, Mervi ^l   Kujala, Paula M ^m   Staff, Synnöve ^m,n   Aaltonen, Lauri A ^l   Olafsdottir, Kristrun ^o   Bjornsson, Johannes ^o   Kong, Augustine ^a   Salvarsdottir, Anna ^o   Saemundsson, Hafsteinn ^o   Olafsson, Karl ^o   Benediktsdottir, Kristrun R ^c,o   Gulcher, Jeffrey ^a   Masson, Gisli ^a   Kiemeney, Lambertus A ^j,k   Mayordomo, Jose I ^p   Thorsteinsdottir, Unnur ^a,c   Stefansson, Kari ^a,c   more..

^a DECODE GENETICS   (Iceland)

^b ICELANDIC CANCER REGISTRY   (Iceland)

^c UNIVERSITY OF ICELAND   (Iceland)

^d HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^e HOSPITAL ARNAU DE VILANOVA   (Spain)

^f HOSPITAL SAN JORGE   (Spain)

^g San Jorge General Hospital   (Spain)

^h UNIVERSITY OF ZARAGOZA   (Spain)

ⁱ Hospital Ciudad de Coria   (Spain)

^j Integraal Kankercentrum Oost   (Netherlands)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l UNIVERSITY OF HELSINKI   (Finland)

^m TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

ⁿ TAMPERE UNIVERSITY HOSPITAL   (Finland)

^o LANDSPITALI UNIVERSITY HOSPITAL   (Iceland)

^p HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA;

ARTICLE; BREAST CANCER; BRIP1 GENE; CANCER RISK; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENOME; GENOTYPE; GYNECOLOGIC CANCER; HUMAN; ICELAND; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OVARY CANCER; PANCREAS CANCER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; TUMOR SUPPRESSOR GENE;

DNA-BINDING PROTEINS; FEMALE; HUMANS; MUTATION; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA HELICASES;

EID: 80054973810     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.955     Document Type: Article

References (29)

1. Ferlay, J. et al. Estimates of worldwide burden of cancer in 2008: GLOBOCAN 2008. Int. J. Cancer 127, 2893-2917 (2010).
2. Stratton, J.F., Pharoah, P., Smith, S.K., Easton, D. & Ponder, B.A. A systematic review and meta-analysis of family history and risk of ovarian cancer. Br. J. Obstet. Gynaecol. 105, 493-499 (1998). (Pubitemid 28261378)
3. Rafnar, T. et al. BRCA2, but not BRCA1, mutations account for familial ovarian cancer in Iceland: a population-based study. Eur. J. Cancer 40, 2788-2793 (2004). (Pubitemid 39574733)
4. Ramus, S.J. & Gayther, S.A. The contribution of BRCA1 and BRCA2 to ovarian cancer. Mol. Oncol. 3, 138-150 (2009).
5. Malander, S. et al. The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol. Oncol. 101, 238-243 (2006).
6. Rubin, S.C. et al. BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am. J. Obstet. Gynecol. 178, 670-677 (1998). (Pubitemid 28196872)
7. Song, H. et al. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nat. Genet. 41, 996-1000 (2009).
8. Goode, E.L. et al. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. Nat. Genet. 42, 874-879 (2010).
9. Bolton, K.L. et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat. Genet. 42, 880-884 (2010).
10. Kong, A. et al. Detection of sharing by descent, long-range phasing and haplotype imputation. Nat. Genet. 40, 1068-1075 (2008).
11. Holm, H. et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat. Genet. 43, 316-320 (2011).
12. Sulem, P. et al. Identification of low-frequency variants associated with gout and serum uric acid levels. Nat. Genet. (in the press).
13. Thorlacius, S. et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat. Genet. 13, 117-119 (1996). (Pubitemid 126528241)
14. Cantor, S.B. et al. BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function. Cell 105, 149-160 (2001). (Pubitemid 32323924)
15. Litman, R. et al. BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ. Cancer Cell 8, 255-265 (2005). (Pubitemid 41317595)
16. Levitus, M. et al. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J. Nat. Genet. 37, 934-935 (2005). (Pubitemid 43086148)
17. Levran, O. et al. The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat. Genet. 37, 931-933 (2005). (Pubitemid 43086147)
18. Seal, S. et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat. Genet. 38, 1239-1241 (2006). (Pubitemid 44646283)
19. Sarantaus, L. et al. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. Eur. J. Hum. Genet. 8, 757-763 (2000).
20. Cantor, S.B. & Guillemette, S. Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. Future Oncol. 7, 253-261 (2011).
21. Yu, X., Chini, C.C., He, M., Mer, G. & Chen, J. The BRCT domain is a phospho-protein binding domain. Science 302, 639-642 (2003). (Pubitemid 37310919)
22. Kumaraswamy, E. & Shiekhattar, R. Activation of BRCA1/BRCA2- associated helicase BACH1 is required for timely progression through S phase. Mol. Cell. Biol. 27, 6733-6741 (2007). (Pubitemid 47483625)
23. Bridge, W.L., Vandenberg, C.J., Franklin, R.J. & Hiom, K. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair. Nat. Genet. 37, 953-957 (2005). (Pubitemid 43086151)
24. Godwin, A.K. et al. A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. Am. J. Hum. Genet. 55, 666-677 (1994).
25. Tavtigian, S.V. et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat. Genet. 12, 333-337 (1996). (Pubitemid 26080098)
26. Wetzels, J.F., Kiemeney, L.A., Swinkels, D.W., Willems, H.L. & den Heijer, M. Age-and gender-specific reference values of estimated GFR in Caucasians: the Nijmegen Biomedical Study. Kidney Int. 72, 632-637 (2007). (Pubitemid 47312796)
27. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
28. Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906-913 (2007). (Pubitemid 47014502)
29. Kong, A. et al. A high-resolution recombination map of the human genome. Nat. Genet. 31, 241-247 (2002).