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Year Number of Results
2005 2
2006 1
2009 2
2010 1
2011 1
2013 1
2014 2
2015 1
2016 1
2017 1
2024 0

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11 results

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Page 1
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
Levitus M, Waisfisz Q, Godthelp BC, de Vries Y, Hussain S, Wiegant WW, Elghalbzouri-Maghrani E, Steltenpool J, Rooimans MA, Pals G, Arwert F, Mathew CG, Zdzienicka MZ, Hiom K, De Winter JP, Joenje H. Levitus M, et al. Nat Genet. 2005 Sep;37(9):934-5. doi: 10.1038/ng1625. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116423
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S, Thompson D, Renwick A, Elliott A, Kelly P, Barfoot R, Chagtai T, Jayatilake H, Ahmed M, Spanova K, North B, McGuffog L, Evans DG, Eccles D; Breast Cancer Susceptibility Collaboration (UK); Easton DF, Stratton MR, Rahman N. Seal S, et al. Nat Genet. 2006 Nov;38(11):1239-41. doi: 10.1038/ng1902. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033622
Mutations in BRIP1 confer high risk of ovarian cancer.
Rafnar T, Gudbjartsson DF, Sulem P, Jonasdottir A, Sigurdsson A, Jonasdottir A, Besenbacher S, Lundin P, Stacey SN, Gudmundsson J, Magnusson OT, le Roux L, Orlygsdottir G, Helgadottir HT, Johannsdottir H, Gylfason A, Tryggvadottir L, Jonasson JG, de Juan A, Ortega E, Ramon-Cajal JM, García-Prats MD, Mayordomo C, Panadero A, Rivera F, Aben KK, van Altena AM, Massuger LF, Aavikko M, Kujala PM, Staff S, Aaltonen LA, Olafsdottir K, Bjornsson J, Kong A, Salvarsdottir A, Saemundsson H, Olafsson K, Benediktsdottir KR, Gulcher J, Masson G, Kiemeney LA, Mayordomo JI, Thorsteinsdottir U, Stefansson K. Rafnar T, et al. Nat Genet. 2011 Oct 2;43(11):1104-7. doi: 10.1038/ng.955. Nat Genet. 2011. PMID: 21964575
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.
Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD. Levran O, et al. Nat Genet. 2005 Sep;37(9):931-3. doi: 10.1038/ng1624. Epub 2005 Aug 21. Nat Genet. 2005. PMID: 16116424
A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.
Kote-Jarai Z, Jugurnauth S, Mulholland S, Leongamornlert DA, Guy M, Edwards S, Tymrakiewitcz M, O'Brien L, Hall A, Wilkinson R, Al Olama AA, Morrison J, Muir K, Neal D, Donovan J, Hamdy F, Easton DF, Eeles R; UKGPCS Collaborators; British Association of Urological Surgeons' Section of Oncology. Kote-Jarai Z, et al. Br J Cancer. 2009 Jan 27;100(2):426-30. doi: 10.1038/sj.bjc.6604847. Epub 2009 Jan 6. Br J Cancer. 2009. PMID: 19127258 Free PMC article.
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, Thornton A, Norquist BM, Casadei S, Nord AS, Agnew KJ, Pritchard CC, Scroggins S, Garcia RL, King MC, Swisher EM. Pennington KP, et al. Clin Cancer Res. 2014 Feb 1;20(3):764-75. doi: 10.1158/1078-0432.CCR-13-2287. Epub 2013 Nov 15. Clin Cancer Res. 2014. PMID: 24240112 Free PMC article.
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Leongamornlert D, Saunders E, Dadaev T, Tymrakiewicz M, Goh C, Jugurnauth-Little S, Kozarewa I, Fenwick K, Assiotis I, Barrowdale D, Govindasami K, Guy M, Sawyer E, Wilkinson R; UKGPCS Collaborators; Antoniou AC, Eeles R, Kote-Jarai Z. Leongamornlert D, et al. Br J Cancer. 2014 Mar 18;110(6):1663-72. doi: 10.1038/bjc.2014.30. Epub 2014 Feb 20. Br J Cancer. 2014. PMID: 24556621 Free PMC article.
11 results