دورية أكاديمية
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
| العنوان: | No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. |
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| المؤلفون: | Easton, DF, Lesueur, F, Decker, B, Michailidou, K, Li, J, Allen, J, Luccarini, C, Pooley, KA, Shah, M, Bolla, MK, Wang, Q, Dennis, J, Ahmad, J, Thompson, ER, Damiola, F, Pertesi, M, Voegele, C, Mebirouk, N, Robinot, N, Durand, G, Forey, N, Luben, RN, Ahmed, S, Aittomäki, K, Anton-Culver, H, Arndt, V, Australian Ovarian Cancer Study Group, Baynes, C, Beckman, MW, Benitez, J, Van Den Berg, D, Blot, WJ, Bogdanova, NV, Bojesen, SE, Brenner, H, Chang-Claude, J, Chia, KS, Choi, J-Y, Conroy, DM, Cox, A, Cross, SS, Czene, K, Darabi, H, Devilee, P, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, Fostira, F, García-Closas, M, Giles, GG, Glendon, G, González-Neira, A, Guénel, P, Haiman, CA, Hall, P, Hart, SN, Hartman, M, Hooning, MJ, Hsiung, C-N, Ito, H, Jakubowska, A, James, PA, John, EM, Johnson, N, Jones, M, Kabisch, M, Kang, D, kConFab Investigators, Kosma, V-M, Kristensen, V, Lambrechts, D, Li, N, Lifepool Investigators, Lindblom, A, Long, J, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Meindl, A, Mitchell, G, Muir, K, NBCS Investigators, Nevelsteen, I, van den Ouweland, A, Peterlongo, P, Phuah, SY, Pylkäs, K, Rowley, SM, Sangrajrang, S, Schmutzler, RK, Shen, C-Y, Shu, X-O, Southey, MC, Surowy, H, Swerdlow, A, Teo, SH, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Verhoef, S, Wong-Brown, M, Zheng, W, Zheng, Y, Nevanlinna, H, Scott, RJ, Andrulis, IL, Wu, AH, Hopper, JL, Couch, FJ, Winqvist, R, Burwinkel, B, Sawyer, EJ, Schmidt, MK, Rudolph, A, Dörk, T, Brauch, H, Hamann, U, Neuhausen, SL, Milne, RL, Fletcher, O, Pharoah, PDP, Campbell, IG, Dunning, AM, Le Calvez-Kelm, F, Goldgar, DE, Tavtigian, SV, Chenevix-Trench, G |
| المساهمون: | Jones, Michael, Swerdlow, Anthony, Fletcher, Olivia |
| بيانات النشر: | BMJ PUBLISHING GROUP |
| سنة النشر: | 2019 |
| المجموعة: | The Institute of Cancer Research (ICR): Publications Repository |
| مصطلحات موضوعية: | Australian Ovarian Cancer Study Group, kConFab Investigators, Lifepool Investigators, NBCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, RNA Helicases, DNA-Binding Proteins, Risk, Cohort Studies, Mutation, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Fanconi Anemia Complementation Group Proteins, Genetic Association Studies |
| الوصف: | BACKGROUND: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. METHODS: We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. RESULTS: The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). CONCLUSIONS: These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | Print-Electronic; 309; application/pdf |
| اللغة: | English |
| تدمد: | 0022-2593 1468-6244 |
| العلاقة: | Journal of medical genetics, 2016, 53 (5), pp. 298 - 309; https://repository.icr.ac.uk/handle/internal/3283Test |
| DOI: | 10.1136/jmedgenet-2015-103529 |
| الإتاحة: | https://doi.org/10.1136/jmedgenet-2015-103529Test https://repository.icr.ac.uk/handle/internal/3283Test |
| حقوق: | https://www.rioxx.net/licenses/all-rights-reservedTest |
| رقم الانضمام: | edsbas.4C199E3F |
| قاعدة البيانات: | BASE |
| تدمد: | 00222593 14686244 |
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| DOI: | 10.1136/jmedgenet-2015-103529 |