Experts and Doctors on brca1 protein in Toronto, Ontario, Canada


Locale: Toronto, Ontario, Canada
Topic: brca1 protein

Top Publications

  1. Yazici H, Glendon G, Yazici H, Burnie S, Saip P, Buyru F, et al. BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases. Hum Mutat. 2002;20:28-34 pubmed
  2. Freitas V, Crystal P, Kulkarni S, Ghai S, Bukhanov K, Escallon J, et al. The value of breast MRI in high-risk patients with newly diagnosed breast cancer to exclude invasive disease in the contralateral prophylactic mastectomy: Is there a role to choose wisely patients for sentinel node biopsy?. Cancer Med. 2016;5:1031-6 pubmed publisher
    ..4% of CPM. MRI accurately identified the case of invasive cancer in this cohort. The high negative predictive value suggests that MRI can be used to select patients without consideration of SLNB for the contralateral side. ..
  3. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  4. Nofech Mozes S, Hanna W. Toker cells revisited. Breast J. 2009;15:394-8 pubmed publisher
    ..The substantial number and the clustering of Toker cells should not be mistaken for PD of the nipple. Unlike PD, Toker cells have small bland nuclei and are characterized by CK7+ and HER2/neu ER and PR negative immunoprofile. ..
  5. Huzarski T, Byrski T, Gronwald J, Cybulski C, Oszurek O, Szwiec M, et al. The impact of oophorectomy on survival after breast cancer in BRCA1-positive breast cancer patients. Breast Cancer Res Treat. 2016;156:371-8 pubmed publisher
    ..44; 95 % CI 0.22-0.89; p = 0.02). Among women with breast cancer and a BRCA1 mutation, survival is greatly improved by oophorectomy due to the prevention of deaths from both breast and ovarian cancer. ..
  6. Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Francis W, et al. Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas. Clin Genet. 2016;89:328-31 pubmed publisher
    ..These current data suggest that additionally all unaffected Bahamian women with a family history of breast/ovarian cancer should be offered genetic testing for the founder BRCA mutations. ..
  7. Pettapiece Phillips R, Kotlyar M, Chehade R, Salmena L, Narod S, Akbari M, et al. Uninterrupted Sedentary Behavior Downregulates BRCA1 Gene Expression. Cancer Prev Res (Phila). 2016;9:83-8 pubmed publisher
    ..Whether this translates into a potentially more harmful effect in BRCA1 mutation carriers warrants further investigation. ..
  8. Kotsopoulos J, Huzarski T, Gronwald J, Moller P, Lynch H, Neuhausen S, et al. Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study. Breast Cancer Res Treat. 2016;155:365-73 pubmed publisher
    ..These findings suggest that a short course of HRT should not be contra-indicated for BRCA1 mutation carriers who have undergone menopause and who have no personal history of cancer. ..
  9. Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher
    ..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..

More Information


  1. Marcon E, Moens P. The evolution of meiosis: recruitment and modification of somatic DNA-repair proteins. Bioessays. 2005;27:795-808 pubmed
    ..Presumably, somatic repair functions and meiotic recombination diverged during evolution, resulting in adaptations specific to sexual reproduction. (c) 2005 Wiley Periodicals, Inc. ..
  2. Kotsopoulos J, Narod S. Androgens and breast cancer. Steroids. 2012;77:1-9 pubmed publisher
    ..We overview the literature examining a role of androgens in the etiology of breast cancer. ..
  3. Narod S. The impact of contralateral mastectomy on mortality in BRCA1 and BRCA2 mutation carriers with breast cancer. Breast Cancer Res Treat. 2011;128:581-3 pubmed publisher
    ..4% of women are expected to die of contralateral breast cancer within 5 years, but 6.8% are expected to die at 20 years from diagnosis. These unnecessary deaths can be prevented by bilateral mastectomy. ..
  4. Shukla P, Singh K, Quan A, Al Omran M, Teoh H, Lovren F, et al. BRCA1 is an essential regulator of heart function and survival following myocardial infarction. Nat Commun. 2011;2:593 pubmed publisher
    ..BRCA1 mutation carriers, in addition to risk of breast and ovarian cancer, may be at a previously unrecognized risk of cardiac failure. ..
  5. McPherson J, Hande M, Poonepalli A, Lemmers B, Zablocki E, Migon E, et al. A role for Brca1 in chromosome end maintenance. Hum Mol Genet. 2006;15:831-8 pubmed
    ..The telomere dysfunction phenotype in Brca1-deficient cells suggests that loss of telomere integrity might contribute to chromosome end dysfunction and permit the formation of potentially oncogenic translocations. ..
  6. Kotsopoulos J, Olopado O, Ghadirian P, Lubinski J, Lynch H, Isaacs C, et al. Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2005;7:R833-43 pubmed
    ..Weight gain should also be avoided, particularly among BRCA1 mutation carriers who elect to have at least two pregnancies. ..
  7. Metcalfe K, Liede A, Hoodfar E, Scott A, Foulkes W, Narod S. An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling. J Med Genet. 2000;37:866-74 pubmed
    ..Age, education, and a previous diagnosis of cancer are important determinants in a woman's decision making after receiving positive genetic test results. ..
  8. Suen T, Goss P. Transcription of BRCA1 is dependent on the formation of a specific protein-DNA complex on the minimal BRCA1 Bi-directional promoter. J Biol Chem. 1999;274:31297-304 pubmed
  9. Golan T, Sella T, O Reilly E, Katz M, Epelbaum R, Kelsen D, et al. Overall survival and clinical characteristics of BRCA mutation carriers with stage I/II pancreatic cancer. Br J Cancer. 2017;116:697-702 pubmed publisher
    ..The role of platinum-based adjuvant therapy in this setting requires prospective investigation. ..
  10. Escribano D az C, Orthwein A, Fradet Turcotte A, Xing M, Young J, Tk J, et al. A cell cycle-dependent regulatory circuit composed of 53BP1-RIF1 and BRCA1-CtIP controls DNA repair pathway choice. Mol Cell. 2013;49:872-83 pubmed publisher
    ..This work therefore identifies a cell cycle-regulated circuit, underpinned by RIF1 and BRCA1, that governs DSB repair pathway choice to ensure that NHEJ dominates in G1 and HR is favored from S phase onward...
  11. Singh K, Shukla P, Quan A, Al Omran M, Lovren F, Pan Y, et al. BRCA1 is a novel target to improve endothelial dysfunction and retard atherosclerosis. J Thorac Cardiovasc Surg. 2013;146:949-960.e4 pubmed publisher
    ..Translational studies evaluating endothelial function and atherosclerosis in individuals with BRCA1 mutations are suggested. ..
  12. Lovren F, Pan Y, Quan A, Singh K, Khan R, Gupta N, et al. BRCA1 shields vascular smooth muscle cells from oxidative stress. J Thorac Cardiovasc Surg. 2014;147:1946-55, 1955.e1 pubmed publisher
    ..Gene- and/or cell-based approaches that improve BRCA1 bioavailability may represent a new approach in the treatment of diverse vascular diseases associated with an aberrant VSMC phenotype. ..
  13. Hakem R, de la Pompa J, Sirard C, Mo R, Woo M, Hakem A, et al. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell. 1996;85:1009-23 pubmed
    ..Thus, the death of Brca1(5-6) mutant embryos prior to gastrulation may be due to a failure of the proliferative burst required for the development of the different germ layers. ..
  14. Senst N, Llacuachaqui M, Lubinski J, Lynch H, Armel S, Neuhausen S, et al. Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation. Clin Genet. 2013;84:43-6 pubmed publisher
    ..However, the data are not sufficiently compelling to justify different screening recommendations for the two subgroups. ..
  15. Narod S, Moody J, Rosen B, Fan I, Risch A, Sun P, et al. Estimating survival rates after ovarian cancer among women tested for BRCA1 and BRCA2 mutations. Clin Genet. 2013;83:232-7 pubmed publisher
    ..1% to 10.0%. The mortality advantage for tested women was due, in part, to a lower than expected mortality rate of tested women in the period following genetic testing. ..
  16. Metcalfe K, Lynch H, Ghadirian P, Tung N, Kim Sing C, Olopade O, et al. Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat. 2011;127:287-96 pubmed publisher
    ..2% per year. For women treated with chemotherapy, radiation therapy or oophorectomy the risk is low, compared to women who did not receive any of these treatments. ..
  17. Winter S, Bosnoyan Collins L, Pinnaduwage D, Andrulis I. Expression of the circadian clock genes Per1 and Per2 in sporadic and familial breast tumors. Neoplasia. 2007;9:797-800 pubmed
  18. McLaughlin J, Risch H, Lubinski J, Moller P, Ghadirian P, Lynch H, et al. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol. 2007;8:26-34 pubmed
    ..13). Oral contraceptives could be used as a means to prevent ovarian cancer in carriers of BRCA1 and BRCA2 mutations. The possible adverse effect of parity on ovarian-cancer risk in women with a BRCA2 mutation needs further study. ..
  19. Motamed Khorasani A, Jurisica I, Letarte M, Shaw P, Parkes R, Zhang X, et al. Differentially androgen-modulated genes in ovarian epithelial cells from BRCA mutation carriers and control patients predict ovarian cancer survival and disease progression. Oncogene. 2007;26:198-214 pubmed
    ..In addition to BACH2 and ACHE, this study highlights a set of potentially functionally related genes for further investigation in ovarian cancer. ..
  20. Mark W, Liao J, Lu Y, Ayed A, Laister R, Szymczyna B, et al. Characterization of segments from the central region of BRCA1: an intrinsically disordered scaffold for multiple protein-protein and protein-DNA interactions?. J Mol Biol. 2005;345:275-87 pubmed
    ..This supports a model in which the central region may act as a long flexible scaffold for intermolecular interactions, thereby helping to integrate multiple signals in the DNA damage response pathway. ..
  21. Mak T, Hakem A, McPherson J, Shehabeldin A, Zablocki E, Migon E, et al. Brca1 required for T cell lineage development but not TCR loci rearrangement. Nat Immunol. 2000;1:77-82 pubmed
    ..Thus, the outcome of Brca1 deficiency was dependent on cellular context, with the major defects being increased apoptosis in thymocytes, and defective proliferation in peripheral T cells. ..
  22. Tram E, Savas S, Ozcelik H. Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2. PLoS ONE. 2013;8:e62468 pubmed publisher
    ..We propose that rare VUS affecting phosphorylation may be a novel and important mechanism for which BRCA1 and BRCA2 functions are disrupted in breast cancer. ..
  23. Gorrini C, Baniasadi P, Harris I, Silvester J, Inoue S, Snow B, et al. BRCA1 interacts with Nrf2 to regulate antioxidant signaling and cell survival. J Exp Med. 2013;210:1529-44 pubmed publisher
    ..In conclusion, the role of BRCA1 in regulating Nrf2 activity suggests important implications for both the etiology and treatment of BRCA1-related cancers. ..
  24. Ginsburg O, Kim Sing C, Foulkes W, Ghadirian P, Lynch H, Sun P, et al. BRCA1 and BRCA2 families and the risk of skin cancer. Fam Cancer. 2010;9:489-93 pubmed publisher
    ..10; P = 0.02). The odds ratio for basal cell carcinoma was higher (OR = 3.8; 95% CI 1.5-9.4; P = 0.002). BRCA2 mutation carriers are at increased risk for skin cancer, compared with BRCA1 carriers, in particular for basal cell carcinoma. ..
  25. Young S, Pilarski R, Donenberg T, Shapiro C, Hammond L, Miller J, et al. The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer. 2009;9:86 pubmed publisher
    ..Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer. ..
  26. Eisen A, Lubinski J, Klijn J, Moller P, Lynch H, Offit K, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005;23:7491-6 pubmed
    ..26 to 0.57). Oophorectomy is an effective means of reducing the risk of breast cancer in carriers of BRCA1 mutations. The data suggest oophorectomy is protective in BRCA2 carriers as well, but needs to be confirmed in other studies. ..
  27. Hakem R, de la Pompa J, Elia A, Potter J, Mak T. Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation. Nat Genet. 1997;16:298-302 pubmed
    ..5. The fact that mutation of neither p53 nor p21 completely rescued Brca1 (5-6) embryos suggests that their lethality is likely due to a multi-factorial process. ..