Artigo Acesso aberto Revisado por pares

Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript

1999; Wiley; Volume: 14; Issue: 6 Linguagem: Inglês

10.1002/(sici)1098-1004(199912)14

ISSN

1098-1004

Autores

Hilmi Özçelik, Raluca Nedelcu, Vivian Chan, Xiu-Hong Shi, Joan Murphy, Barry P. Rosen, Irene L. Andrulis,

Tópico(s)

RNA modifications and cancer

Resumo

Human MutationVolume 14, Issue 6 p. 540-541 Letter to the Editor Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript Hilmi Ozcelik, Corresponding Author Hilmi Ozcelik [email protected] Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, Universitiy of Toranto, Toronto, CanadaMount Sinai Hospital, Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Room 1070-B, Toronto, Ontario M5G 1X5, CanadaSearch for more papers by this authorRaluca Nedelcu, Raluca Nedelcu Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Ontario Cancer Genetics Network, Cancer Care Ontario, Toronto, CanadaSearch for more papers by this authorVivian W.Y. Chan, Vivian W.Y. Chan Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorXiu-Hong Shi, Xiu-Hong Shi Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorJoan Murphy, Joan Murphy Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Department of Gynecology and Gynecologic Oncology, University of Toronto, Toronto, CanadaSearch for more papers by this authorBarry Rosen, Barry Rosen Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Department of Gynecology and Gynecologic Oncology, University of Toronto, Toronto, CanadaSearch for more papers by this authorIrene L. Andrulis, Irene L. Andrulis Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, Universitiy of Toranto, Toronto, Canada Department of Molecular and Medical Genetics, Universitiy of Toranto, Toronto, Canada Ontario Cancer Genetics Network, Cancer Care Ontario, Toronto, CanadaSearch for more papers by this author Hilmi Ozcelik, Corresponding Author Hilmi Ozcelik [email protected] Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, Universitiy of Toranto, Toronto, CanadaMount Sinai Hospital, Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Room 1070-B, Toronto, Ontario M5G 1X5, CanadaSearch for more papers by this authorRaluca Nedelcu, Raluca Nedelcu Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Ontario Cancer Genetics Network, Cancer Care Ontario, Toronto, CanadaSearch for more papers by this authorVivian W.Y. Chan, Vivian W.Y. Chan Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorXiu-Hong Shi, Xiu-Hong Shi Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, CanadaSearch for more papers by this authorJoan Murphy, Joan Murphy Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Department of Gynecology and Gynecologic Oncology, University of Toronto, Toronto, CanadaSearch for more papers by this authorBarry Rosen, Barry Rosen Familial Ovarian Cancer Clinic, Princess Margaret Hospital, Toronto, Canada Department of Gynecology and Gynecologic Oncology, University of Toronto, Toronto, CanadaSearch for more papers by this authorIrene L. Andrulis, Irene L. Andrulis Department of Pathology and Laboratory Medicine and Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Canada Department of Laboratory Medicine and Pathobiology, Universitiy of Toranto, Toronto, Canada Department of Molecular and Medical Genetics, Universitiy of Toranto, Toronto, Canada Ontario Cancer Genetics Network, Cancer Care Ontario, Toronto, CanadaSearch for more papers by this author First published: 22 November 1999 https://doi.org/10.1002/(SICI)1098-1004(199912)14:6 3.0.CO;2-CCitations: 10AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES Breast Cancer Information Core. 1999. http://www.nhgri.nih.gov/Intramural―research/Lab―transfer/Bic/Member/index.html. Den Dunnen JT, Van Ommen G-JB. 1999. The protein truncation test: a review. Hum Mutat 14: 95– 102.Medline Ford D, Easton DF. 1995. The genetics of breast and ovarian cancer. Br J Cancer 72: 805– 812.Medline Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennet LM, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow PK, Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barret C, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick M. 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66– 71.Medline Ozcelik H, Antebi Y, Cole DEC, Andrulis IL. 1996. Heteroduplex and protein truncation analysis of the BRCA1 185delAG mutation. Hum Genet 98: 310– 312.Medline Ozcelik H, Schmocker B, Di Nicola N, Shi X-H, Langer B, Moore M, Taylor R, Taylor BR, Narod SA, Darlington G, Andrulis IL, Gallinger S, Redston M. 1997. Increased carrier rate of germline BRCA2 6174delT mutations in Jewish individuals with pancreatic cancer. Nat Genet 16: 17– 18.Medline Citing Literature Volume14, Issue6December 1999Pages 540-541 ReferencesRelatedInformation

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