מוטציית BRCA
הערות שוליים

↑  Holly Yan (2013-05-14). "What's the gene that led to Angelina Jolie's double mastectomy?". Health. CNN.
↑  "BRCA1 and BRCA2: Cancer Risk and Genetic Testing". National Cancer Institute. 29 במאי 2009. {{cite web}}:  (עזרה)
1 2 3  "Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer". Journal of the American Medical Association. 297 (23): 2587–2595. 2007. doi:10.1001/jama.297.23.2587. PMID 17579227free{{cite journal}}:  תחזוקה - ציטוט: postscript (link)
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64  Morris, Joi L.; Gordon, Ora K. (2010). Positive Results: Making the Best Decisions When You're at High Risk for Breast or Ovarian Cancer. Amherst, N.Y.: Prometheus Books. ISBN 978-1-59102-776-8.
↑  Chen, S.; Parmigiani, G. (אפר' 2007). "Meta-analysis of BRCA1 and BRCA2 penetrance". J Clin Oncol. 25 (11): 1329–33. doi:10.1200/JCO.2006.09.1066. PMC 2267287. PMID 17416853. {{cite journal}}:  (עזרה)
↑  Veronesi, A.; De Giacomi, C. D.; Magri, M. D.; Lombardi, D.; Zanetti, M.; Scuderi, C.; Dolcetti, R.; Viel, A.; Crivellari, D. (2005). "Familial breast cancer: Characteristics and outcome of BRCA 1–2 positive and negative cases". BMC Cancer. 5: 70. doi:10.1186/1471-2407-5-70. PMC 1184063. PMID 15996267.
↑  Budroni, M.; Cesaraccio, R.; Coviello, V.; Sechi, O.; Pirino, D.; Cossu, A.; Tanda, F.; Pisano, M.; Palomba, G. (2009). "Role of BRCA2 mutation status on overall survival among breast cancer patients from Sardinia". BMC Cancer. 9: 62. doi:10.1186/1471-2407-9-62. PMC 2653541. PMID 19232099.
↑  Verhoog, L. C.; Brekelmans, C. T.; Seynaeve, C.; Van Den Bosch, L. M.; Dahmen, G.; Van Geel, A. N.; Tilanus-Linthorst, M. M.; Bartels, C. C.; Wagner, A. (1998). "Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1". Lancet. 351 (9099): 316–321. doi:10.1016/S0140-6736(97)07065-7. PMID 9652611.
1 2 3 4 5 6  Kurian, AW; Sigal, BM; Plevritis, SK (ינו' 2010). "Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers". J Clin Oncol. 28 (2): 222–31. doi:10.1200/JCO.2009.22.7991. PMC 2815712. PMID 19996031. {{cite journal}}:  (עזרה)
1 2 3 4  Friedenson B (2005). "BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian". MedGenMed. 7 (2): 60. PMC 1681605. PMID 16369438.
1 2  Friedenson B (2007). "The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers". BMC Cancer. 7: 15. doi:10.1186/1471-2407-7-152. PMC 1959234. PMID 17683622.
1 2 3 4 5 6 7 8 9 10 11 12 13 14  Fishman A (באוקטובר 2010). "The effects of parity, breastfeeding, and infertility treatment on the risk of hereditary breast and ovarian cancer: a review". Int. J. Gynecol. Cancer. 20 (11 Suppl 2): S31–3. doi:10.1111/IGC.0b013e3181f60d4d. PMID 20975359. {{cite journal}}:  (עזרה)
↑  "Fertility in women with BRCA mutations: a case-control study". Fertil. Steril. 93 (6): 1805–8. באפריל 2010. doi:10.1016/j.fertnstert.2008.12.052. PMID 19200971. {{cite journal}}:  (עזרה)
↑  Broer, S. L.; Broekmans, F. J. M.; Laven, J. S. E.; Fauser, B. C. J. M. (2014). "Anti-Mullerian hormone: ovarian reserve testing and its potential clinical implications". Human Reproduction Update. 20 (5): 688–701. doi:10.1093/humupd/dmu020. ISSN 1355-4786. PMID 24821925free{{cite journal}}:  תחזוקה - ציטוט: postscript (link)
↑  Oktay, K; Kim, JY; Barad, D; Babayev, SN (ינו' 2010). "Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks". J Clin Oncol. 28 (2): 240–4. doi:10.1200/JCO.2009.24.2057. PMC 3040011. PMID 19996028. {{cite journal}}:  (עזרה)
↑  Moslehi, R; Singh, R; Lessner, L; Friedman, JM (במרץ–באפריל 2010). "Impact of BRCA mutations on female fertility and offspring sex ratio". Am J Hum Biol. 22 (2): 201–5. doi:10.1002/ajhb.20978. PMC 3739697. PMID 19642207. {{cite journal}}:  (עזרה)
↑  Balmaña, Judith; Díez, Orland; Campos, Berta; Majewski, Magdalena; Sanz, Judit; Alonso, Carmen; Baiget, Montserrat; Garber, Judy E. (באוגוסט 2005). "Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?". Breast Cancer Research and Treatment. 92 (3): 273–277. doi:10.1007/s10549-005-3377-x. ISSN 0167-6806. PMID 16155798. {{cite journal}}:  (עזרה)
↑  Agnese, D M (במרץ 2006). "Battle of the BRCA1/BRCA2 (offspring) sex ratios: truth or consequences". Journal of Medical Genetics. 43 (3): 201–202. doi:10.1136/jmg.2004.028977. ISSN 0022-2593. PMC 2563236. PMID 16033919. {{cite journal}}:  (עזרה)
↑  "Breastfeeding and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers". Breast Cancer Res. 14 (2): R42. במרץ 2012. doi:10.1186/bcr3138. PMC 3446376. PMID 22405187. {{cite journal}}:  (עזרה)
↑  Greenberg RA (בספטמבר 2006). "BRCA mutations and childhood cancer". Cancer Biol. Ther. 5 (9): 1103–4. doi:10.4161/cbt.5.9.3370. PMC 2703724. PMID 17012842. {{cite journal}}:  (עזרה)
↑  US Preventive Services Task, Force.; Owens, DK; Davidson, KW; Krist, AH; Barry, MJ; Cabana, M; Caughey, AB; Doubeni, CA; Epling JW, Jr (20 באוגוסט 2019). "Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement". JAMA. 322 (7): 652–665. doi:10.1001/jama.2019.10987. PMID 31429903free {{cite journal}}:  (עזרה)תחזוקה - ציטוט: postscript (link)
↑  Pagon, RA.; Adam, MP.; Ardinger, HH.; Bird, TD.; Dolan, CR.; Fong, CT.; Smith, RJH.; Stephens, K.; Petrucelli, N. (1993). BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer. Encyclopedia of Cancer. pp. 381–385. doi:10.1016/b0-12-227555-1/00090-3. ISBN 9780122275555. PMID 20301425.
↑  Rosenberg, Shoshana M.; Ruddy, Kathryn J.; Tamimi, Rulla M.; Gelber, Shari; Schapira, Lidia; Come, Steven; Borges, Virginia F.; Larsen, Bryce; Garber, Judy E. (2016-02-11). "BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer". JAMA Oncology. 2 (6): 730–6. doi:10.1001/jamaoncol.2015.5941. ISSN 2374-2445. PMC 5002892. PMID 26867710.
↑  "Referral guidelines - cancer genetics". www.gosh.nhs.uk. נבדק ב-2016-02-21.
↑  Pijpe, A.; Andrieu, N.; Easton, D. F.; Kesminiene, A.; Cardis, E.; Noguès, C.; Gauthier-Villars, M.; Lasset, C.; Fricker, J. - P. (2012). "Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: Retrospective cohort study (GENE-RAD-RISK)". BMJ. 345: e5660. doi:10.1136/bmj.e5660. PMC 3435441. PMID 22956590.
↑  Lynch, H. T.; Casey, M. J.; Snyder, C. L.; Bewtra, C.; Lynch, J. F.; Butts, M.; Godwin, A. K. (2009). "Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management". Molecular Oncology. 3 (2): 97–137. doi:10.1016/j.molonc.2009.02.004. PMC 2778287. PMID 19383374.
1 2  Moorman, P. G.; Havrilesky, L. J.; Gierisch, J. M.; Coeytaux, R. R.; Lowery, W. J.; Peragallo Urrutia, R.; Dinan, M.; McBroom, A. J.; Hasselblad, V. (2013). "Oral Contraceptives and Risk of Ovarian Cancer and Breast Cancer Among High-Risk Women: A Systematic Review and Meta-Analysis". Journal of Clinical Oncology. 31 (33): 4188–98. doi:10.1200/JCO.2013.48.9021. PMID 24145348.
1 2  Iodice, Simona; Barile, Monica; Rotmensz, Nicole; Feroce, Irene; Bonanni, Bernardo; Radice, Paolo; Bernard, Loris; Maisonneuve, Patrick; Gandini, Sara (באוגוסט 2010). "Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis". European Journal of Cancer. 46 (12): 2275–2284. doi:10.1016/j.ejca.2010.04.018. PMID 20537530. {{cite journal}}:  (עזרה)
↑  Cibula, David; Zikan, Michal; Dusek, Ladislav; Majek, Ondrej (באוגוסט 2011). "Oral contraceptives and risk of ovarian and breast cancers in BRCA mutation carriers: a meta-analysis". Expert Review of Anticancer Therapy. 11 (8): 1197–1207. doi:10.1586/era.11.38. PMID 21916573. {{cite journal}}:  (עזרה)
1 2  Pruthi, S.; Gostout, B. S.; Lindor, N. M. (2010). "Identification and Management of Women with BRCA Mutations or Hereditary Predisposition for Breast and Ovarian Cancer". Mayo Clinic Proceedings. 85 (12): 1111–1120. doi:10.4065/mcp.2010.0414. PMC 2996153. PMID 21123638.
↑  Burke, Wylie (1997-03-26). "Recommendations for follow-up care of individuals with an inherited predisposition to cancer: Ii. brca1 and brca2". JAMA. 277 (12): 997–1003. doi:10.1001/jama.1997.03540360065034. ISSN 0098-7484. PMID 9091675.
↑  Kwon, J. S.; Tinker, A.; Pansegrau, G.; McAlpine, J.; Housty, M.; McCullum, M.; Gilks, C. B. (2013). "Prophylactic Salpingectomy and Delayed Oophorectomy as an Alternative for BRCA Mutation Carriers". Obstetrics and Gynecology. 121 (1): 14–24. doi:10.1097/AOG.0b013e3182783c2f. PMID 23232752.
↑  Stadler, ZK.; Kauff, ND. (ינו' 2010). "Weighing options for cancer risk reduction in carriers of BRCA1 and BRCA2 mutations". J Clin Oncol. 28 (2): 189–91. doi:10.1200/JCO.2009.25.6875. PMID 19996025. {{cite journal}}:  (עזרה)
1 2  Jeffers, Lisa; Reid, Joanne; Fitzsimons, Donna; Morrison, Patrick J; Dempster, Martin (2019-10-09). "Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery". Cochrane Database of Systematic Reviews. 10: CD012894. doi:10.1002/14651858.cd012894.pub2. ISSN 1465-1858. PMC 6784162. PMID 31595976.
1 2  King, MC; Marks, JH; Mandell, JB (אוק' 2003). "Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2". Science. 302 (5645): 643–6. Bibcode:2003Sci...302..643K. doi:10.1126/science.1088759. PMID 14576434. {{cite journal}}:  (עזרה)
הבהרה: המידע בוויקיפדיה נועד להעשרה בלבד ואינו מהווה ייעוץ רפואי.
מוטציות BRCA עוברות בתורשה באופן גנטי דומיננטי, מכל אחד מההורים.
BRCA הם גנים מדכאי סרטן והם מצוירים כאן על הכרומוזומים שלהם. המיקום הציטוגנטי של BRCA1 הוא 17q21 כלומר זרוע q של כרומוזום 17 בעמדה 21. המיקום הציטוגנטי של BRCA2 הוא 13q12.3 כלומר זרוע ה-q של כרומוזום 13 בעמדה 12.3. שני הגנים מייצרים חלבונים שעוזרים לתקן DNA פגום בכך שהם שומרים על יציבות החומר הגנטי של התא. גן BRCA פגום בכל אחד מהמקומות עלול להוביל לסיכון מוגבר לסרטן, במיוחד השד או השחלה בנשים.