المؤلفون: Easton, D.F. (Douglas F.), Lesueur, F. (Fabienne), Decker, B. (Brennan), Michailidou, K. (Kyriaki), Li, J. (Jun), Allen, J. (Jamie), Luccarini, C. (Craig), Pooley, K.A. (Karen), Shah, M. (Mitul), Bolla, M.K. (Manjeet), Wang, Q. (Qin), Dennis, J. (Joe), Ahmad, J. (Jamil), Thompson, E.R. (Ella), Damiola, F. (Francesca), Pertesi, M. (Maroulio), Voegele, C. (Catherine), Mebirouk, N. (Noura), Robinot, N. (Nivonirina), Durand, G. (Geoffroy), Forey, N. (Nathalie), Luben, R.N. (Robert), Ahmed, S. (Shahana), Aittomäki, K. (Kristiina), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Baynes, C. (Caroline), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Van Den Berg, D. (David), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brenner, H. (Hermann), Chang-Claude, J. (Jenny), Chia, K.S. (Kee Seng), Choi, J.-Y. (Ji-Yeob), Conroy, D. (Don), Cox, A. (Angela), Cross, S.S. (Simon S.), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Eriksson, M. (Mats), Fasching, P.A. (Peter), Figueroa, J.D. (Jonine), Flyger, H. (Henrik), Fostira, F. (Florentia), García-Closas, M. (Montserrat), Giles, G.G. (Graham), Glendon, G. (Gord), González-Neira, A. (Anna), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hall, P. (Per), Hart, S.N. (Steven N.), Hartman, J.M. (Joost), Hooning, M.J. (Maartje), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), James, P.A. (Paul A.), John, E.M. (Esther M.), Johnson, N. (Nichola), Jones, M. (Michael), Kabisch, M. (Maria), Kang, D. (Daehee), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Lambrechts, D. (Diether), Li, N. (Na), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Lindblom, A. (Annika), Long, J. (Jirong), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Matsuo, K. (Keitaro), Margolin, S. (Sara), Meindl, A. (Alfons), Mitchell, G. (Gillian), Muir, K.R. (K.), Nevelsteen, I. (Ines), Ouweland, A.M.W. (Ans) van den, Peterlongo, P. (Paolo), Phuah, S.-Y. (Sze-Yee), Pykäs, K. (Katri), Rowley, S.M. (Simone M.), Shen, C-Y. (Chen-Yang), Schmutzler, R.K. (Rita), Shen, C.-Y. (Chen-Yang), Shu, X.-O. (Xiao-Ou), Southey, M.C. (Melissa), Surowy, H. (Harald), Swerdlow, A.J. (Anthony ), Teo, S.-H. (Soo-Hwang), Tollenaar, R.A.E.M. (Rob), Tomlinson, I.P. (Ian), Vachon, C. (Celine), Truong, T. (Thérèse), Verhoef, S., Wong-Brown, M. (Michelle), Zheng, W. (Wei), Zheng, Y. (Ying), Nevanlinna, H. (Heli), Scott, R.J. (Rodney), Andrulis, I.L. (Irene), Couch, F.J. (Fergus), Hopper, J.L. (John), Burwinkel, B. (Barbara), Winqvist, R. (Robert), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Rudolph, A. (Anja), Dörk, T. (Thilo), Neuhausen, S.L. (Susan), Hamann, U. (Ute), Neuhausen, S.L. (Susan L.), Milne, R.L. (Roger), Fletcher, O. (Olivia), Pharoah, P.D.P. (Paul), Campbell, I. (Ian), Goldgar, D. (David), Tavtigian, S.V. (Sean), Goldgar, D.E. (David E.), Tavtigian, S.V. (Sean V.), Chenevix-Trench, G. (Georgia), Kleivi, K. (Kristine), Ottestad, L. (Lars), Karesen, R. (Rolf), Langerød, A. (Anita), Schlichting, E. (Ellen), Holmen, M.M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebråten, O. (Olav), Naume, B. (Bjorn), Kiserud, C.E. (Cecile E.), Reinertsen, K.V. (Kristin V.), Helland, Å. (Åslaug), Riis, M. (Margit), Bukholm, I. (Ida), Lønning, P.E. (Per ), Nord, S. (Silje), Alnæs, G.G. (Grethe)

المصدر: Journal of Medical Genetics vol. 53 no. 5, pp. 298-309

العلاقة: http://repub.eur.nl/pub/85082Test; urn:hdl:1765/85082

الإتاحة: https://doi.org/10.1136/jmedgenet-2015-103529Test
http://repub.eur.nl/pub/85082Test

المؤلفون: Alexiadis, M., Rowley, S.M., Chu, S., Leung, D.T.H., Stewart, C.J.R., Amarasinghe, K.C., Campbell, I.G., Fuller, P.J.

المصدر: http://dx.doi.org/10.1158/1541-7786.mcr-18-0359Test.

مصطلحات موضوعية: Humans, Granulosa Cell Tumor, Ovarian Neoplasms, Telomerase, Neoplasm Staging, Gene Dosage, Mutation, Female, Promoter Regions, Genetic, Exome, Forkhead Box Protein L2

العلاقة: http://purl.org/au-research/grants/nhmrc/1058334Test; http://purl.org/au-research/grants/nhmrc/1002559Test; Molecular Cancer Research, 2019; 17(1):177-185; http://hdl.handle.net/2440/120951Test; Chu, S. [0000-0003-4658-215X]

الإتاحة: https://doi.org/10.1158/1541-7786.mcr-18-0359Test
http://hdl.handle.net/2440/120951Test

المؤلفون: Easton, D.F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J., Luccarini, C., Pooley, K.A., Shah, M., Bolla, M.K., Wang, Q., Dennis, J., Ahmad, J., Thompson, E.R., Damiola, F., Pertesi, M., Voegele, C., Mebirouk, N., Robinot, N., Durand, G., Forey, N., Luben, R.N., Ahmed, S., Aittomäki, K., Anton-Culver, H., Arndt, V., Baynes, C., Beckman, M.W., Benitez, J., Van Den Berg, D., Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Brenner, H., Chang-Claude, J., Chia, K.S., Choi, J.Y., Conroy, D.M., Cox, A., Cross, S.S., Czene, K., Darabi, H., Devilee, P., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Fostira, F., García-Closas, M., Giles, G.G., Glendon, G., González-Neira, A., Guénel, P., Haiman, C.A, Hall, P., Hart, S.N., Hartman, M., Hooning, M.J., Hsiung, C.N., Ito, H., Jakubowska, A., James, P.A, John, E.M., Johnson, N., Jones, M., Kabisch, M., Kang, D., Kosma, V.M., Kristensen, V., Lambrechts, D., Li, N., Lindblom, A., Long, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Meindl, A., Mitchell, G., Muir, K., Nevelsteen, I., van den Ouweland, A., Peterlongo, P., Phuah, S.Y., Pylkäs, K., Rowley, S.M., Sangrajrang, S., Schmutzler, R.K., Shen, C.Y., Shu, X.O., Southey, M.C, Surowy, H., Swerdlow, A., Teo, S.H., Tollenaar, R.A., Tomlinson, I., Torres, D., Truong, T., Vachon, C., Verhoef, S., Wong-Brown, M., Zheng, W., Zheng, Y., Nevanlinna, H., Scott, R.J., Andrulis, I.L., Wu, A.H., Hopper, J.L., Couch, F.J., Winqvist, R., Burwinkel, B., Sawyer, E.J., Schmidt, M.K., Rudolph, A., Dörk, T., Brauch, H, Hamann, U., Neuhausen, S.L., Milne, R.L., Fletcher, O., Pharoah, P.D., Campbell, I.G., Dunning, A.M., Le Calvez-Kelm, F., Goldgar, D.E., Tavtigian, S.V., Chenevix-Trench, G.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/96291/3/BRIP1_FINAL_JMG_REVISIONS.pdfTest; Easton, D.F., Lesueur, F., Decker, B. et al. (126 more authors) (2016) No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. Journal of Medical Genetics . ISSN 0022-2593

الإتاحة: https://eprints.whiterose.ac.uk/96291Test/
https://eprints.whiterose.ac.uk/96291/3/BRIP1_FINAL_JMG_REVISIONS.pdfTest
http://jmg.bmj.com/content/early/2016/02/26/jmedgenet-2015-103529.abstractTest

المؤلفون: Easton, D.F., Lesueur, F., Decker, B., Michailidou, K., Li, J., Allen, J., Luccarini, C., Pooley, K.A., Shah, M., Bolla, M.K., Wang, Q., Dennis, J., Ahmad, J., Thompson, E.R., Damiola, F., Pertesi, M., Voegele, C., Mebirouk, N., Robinot, N., Durand, G., Forey, N., Luben, R.N., Ahmed, S., Aittomaki, K., Anton-Culver, H., Arndt, V., Baynes, C., Beckman, M.W., Benitez, J., Berg, D. van den, Blot, W.J., Bogdanova, N.V., Bojesen, S.E., Brenner, H., Chang-Claude, J., Chia, K.S., Choi, J.Y., Conroy, D.M., Cox, A., Cross, S.S., Czene, K., Darabi, H., Devilee, P., Eriksson, M., Fasching, P.A., Figueroa, J., Flyger, H., Fostira, F., Garcia-Closas, M., Giles, G.G., Glendon, G., Gonzalez-Neira, A., Guenel, P., Haiman, C.A., Hall, P., Hart, S.N., Hartman, M., Hooning, M.J., Hsiung, C.N., Ito, H., Jakubowska, A., James, P.A., John, E.M., Johnson, N., Jones, M., Kabisch, M., Kang, D., Kosma, V.M., Kristensen, V., Lambrechts, D., Li, N., Lindblom, A., Long, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Manoukian, S., Margolin, S., Matsuo, K., Meindl, A., Mitchell, G., Muir, K., Nevelsteen, I., Ouweland, A. van den, Peterlongo, P., Phuah, S.Y., Pylkas, K., Rowley, S.M., Sangrajrang, S., Schmutzler, R.K., Shen, C.Y., Shu, X.O., Southey, M.C., Surowy, H., Swerdlow, A., Teo, S.H., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Truong, T., Vachon, C., Verhoef, S., Wong-Brown, M., Zheng, W., Zheng, Y., Nevanlinna, H., Scott, R.J., Andrulis, I.L., Wu, A.H., Hopper, J.L., Couch, F.J., Winqvist, R., Burwinkel, B., Sawyer, E.J., Schmidt, M.K., Rudolph, A., Dork, T., Brauch, H., Hamann, U., Neuhausen, S.L., Milne, R.L., Fletcher, O., Pharoah, P.D.P., Campbell, I.G., Dunning, A.M., Calvez-Kelm, F. le, Goldgar, D.E., Tavtigian, S.V., Chenevix-Trench, G., Australian Ovarian Canc Study Grp, kConFab Investigators, Lifepool Investigators, NBCS Investigators

المساهمون: Luben, Robert N [0000-0002-5088-6343], Apollo - University of Cambridge Repository, Clinical Genetics, Medical Oncology, Molecular Genetics

المصدر: Easton, Douglas F; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; et al.(2016). No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.. Journal of medical genetics, 53(5), 298-309. doi: 10.1136/jmedgenet-2015-103529. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/1rx9j9xfTest
Journal of Medical Genetics, 53(5), 298-309
Journal of Medical Genetics
Journal of Medical Genetics, 53(5), 298-309. BMJ Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Bioinformatics, Medical and Health Sciences, Cohort Studies, Breast cancer screening, 0302 clinical medicine, Medizinische Fakultät, Missense mutation, Genetics (clinical), Genetics & Heredity, education.field_of_study, medicine.diagnostic_test, Biological Sciences, Middle Aged, Fanconi Anemia Complementation Group Proteins, 3. Good health, ddc, DNA-Binding Proteins, 030220 oncology & carcinogenesis, kConFab Investigators, Female, RNA Helicases, Australian Ovarian Cancer Study Group, Adult, Risk, medicine.medical_specialty, PALB2, Population, European Continental Ancestry Group, Breast Neoplasms, NBCS Investigators, Biology, Article, White People, 03 medical and health sciences, Breast cancer, SDG 3 - Good Health and Well-being, Molecular genetics, Genetics, medicine, breast [Cancer], Humans, Genetic Predisposition to Disease, Genetic Testing, ddc:610, Allele, education, Genetic Association Studies, Aged, Cancer: breast, BRIP1, medicine.disease, 030104 developmental biology, Lifepool Investigators, Mutation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954733087f09f8cb583137350831c39cTest
https://pubmed.ncbi.nlm.nih.gov/26921361Test