Gene References

A B C D E F G H I K L M N O P R S T U V W X Z

BCAR1 (breast cancer anti-estrogen resistance 1)

Brinkman A, de Jong D, Tuinman S, Azaouagh N, van Agthoven T, Dorssers LC. The substrate domain of BCAR1 is essential for anti-estrogen-resistant proliferation of human breast cancer cells. Breast Cancer Res Treat 2010; 120:401-8.

Konstantinovsky S, Smith Y, Zilber S et al. Breast carcinoma cells in primary tumors and effusions have different gene array profiles. J Oncol 2010. doi:10. 1155/2010/969084.

van Agthoven T, Sieuwerts AM, Meijer-van Gelder ME et al. Relevance of breast cancer antiestrogen resistance genes in human breast cancer progression and tamoxifen resistance. J Clin Oncol 2009; 27:542-9.

van Agthoven T, Veldscholte J, Smid M et al. Functional identification of genes causing estrogen independence of human breast cancer cells. Breast Cancer Res Treat 2009; 114:23-30.

BCHE (butyrylcholinesterase)

Amitay M, Shurki A. The structure of G117H mutant of butyrylcholinesterase: nerve agents scavenger. Proteins 2009; 77:370-7.

Babaoglu MO, Ocal T, Bayar B, Kayaalp SO, Bozkurt A. Frequency and enzyme activity of the butyrylcholinesterase K-variant in a Turkish population. Eur J Clin Pharmacol 2004; 59:875-7.

Bansal I, Waghmare CK, Anand T, Gupta AK, Bhattacharya BK. Differential mRNA expression of acetylcholinesterase in the central nervous system of rats with acute and chronic exposure of sarin & physostigmine. J Appl Toxicol 2009; 29:386-94.

Bernardi CC, Ribeiro Ede S, Cavalli IJ, Chautard-Freire-Maia EA, Souza RL. Amplification and deletion of the ACHE and BCHE cholinesterase genes in sporadic breast cancer. Cancer Genet Cytogenet 2010; 197:158-65.

Birks J, Grimley Evans J, Iakovidou V, Tsolaki M, Holt FE. Rivastigmine for Alzheimer’s disease. Cochrane Database Syst Rev 2009; CD001191.

Cacabelos R. Pharmacogenomics for the treatment of dementia. Ann Med 2002; 34:357-79.

Cacabelos R. Donepezil in Alzheimer’s disease: From conventional trials to pharmacogenetics. Neuropsychiat Dis Treat 2007; 3:303-33.

Cacabelos R, Fernández-Novoa L, Lombardi V, Kubota Y, Takeda M. Molecular genetics of Alzheimer’s disease and aging. Methods Find Exp Clin Pharmacol 2005; 27 Suppl A:1-573.

Duysen EG, Li B, Lockridge O. The butyrylcholinesterase knockout mouse a research tool in the study of drug sensitivity, bio-distribution, obesity and Alzheimer’s disease. Expert Opin Drug Metab Toxicol 2009; 5:523-8.

Gätke MR, Bundgaard JR, Viby-Mogensen J. Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia. Pharmacogenet Genomics 2007; 17:995-9.

Giacobini E. Cholinesterases in human brain: the effect of cholinesterase inhibitors on Alzheimer’s disease and related disorders. In Giacobini E, Pepeu G (Eds). The Brain Cholinergic System in Health and Disease. Oxon: Healthcare 2006; 235-64.

Howard TD, Hsu FC, Grzywacz JG et al. Evaluation of candidate genes for cholinesterase activity in farmworkers exposed to organophosphorus pesticides: association of single nucleotide polymorphisms in BCHE. Environ Health Perspect 2010; 118:1395-9.

Lando G, Mosca A, Bonora R et al. Frequency of butyrylcholinesterase gene mutations in individuals with abnormal inhibition numbers: an Italian-population study. Pharmacogenetics 2003; 13:265-70.

Lane R, Feldman HH, Meyer J et al. Synergistic effect of apolipoprotein E epsilon4 and butyrylcholinesterase K-variant on progression from mild cognitive impairment to Alzheimer’s disease. Pharmacogenet Genomics 2008; 18:289-98.

Leyhe T, Hoffmann N, Stransky E, Laske C. Increase of SCF plasma concentration during donepezil treatment of patients with early Alzheimer’s disease. Int J Neuropsychopharmacol 2009; 7:1-8.

Mikami LR, Wieseler S, Souza RL et al. Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population. Pharmacogenet Genomics 2008; 18:213-8.

Mikami LR, Wieseler S, Souza RL, Schopfer LM, Lockridge O, Chautard-Freire-Maia EA. Expression of three naturally occurring genetic variants (G75R, E90D, I99M) of the BCHE gene of human butyrylcholinesterase. Pharmacogenet Genomics 2007; 17:681-5.

Naik RS, Hartmann J, Kiewert C, Duysen EG, Lockridge O, Klein J. Effects of rivastigmine and donepezil on brain acetylcholine levels in acetylcholinesterase-deficient mice. J Pharm Pharm Sci 2009; 12:79-85.

Nogueira CP, Bartels CF, McGuire MC et al. Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase. Am J Hum Genet 1992; 51:821-8.

Nordberg A, Darreh-Shori T, Peskind E et al. Different cholinesterase inhibitor effects on CSF cholinesterases in Alzheimer patients. Curr Alzheimer Res 2009; 6:4-14.

Podoly E, Shalev DE, Shenhar-Tsarfaty S et al. The butyrylcholinesterase K variant confers structurally derived risks for Alzheimer pathology. J Biol Chem 2009; 284:17170-9.

Primo-Parmo SL, Lightstone H, La Du BN. Characterization of an unstable variant (BChE115D) of human butyrylcholinesterase. Pharmacogenetics 1997; 7:27-34.

Valle AM, Radic Z, Rana BK et al. The cholinesterases: analysis by pharmacogenomics in man. Chem Biol Interact 2008; 175:343-5.

BCR (breakpoint cluster region)

Branford S, Melo JV, Hughes TP. Selecting optimal second-line tyrosine kinase inhibitor therapy for chronic myeloid leukemia patients after imatinib failure: does the BCR-ABL mutation status really matter? Blood 2009; 114:5426-35.

Dollery CT. Beyond genomics. Clin Pharmacol Ther 2007; 82:366-70.

Faber E, Mojzikova R, Plachy R et al. Major molecular response achieved with dasatinib in a CML patient with F317L BCR-ABL kinase domain mutation. Leuk Res 2010; 34:91-3.

Gökbuget N, Hoelzer D. Treatment of adult acute lymphoblastic leukemia. Semin Hematol 2009; 46:64-75.

Gotoh M, Tauchi T, Yoshizawa S et al. Successful prior treatment with dasatinib followed by stem cell transplantation in a patient with CML in blastic crisis with a BCR-ABL mutation. Int J Hematol 2010; 91:128-31.

Hochhaus A, La Rosée P, Müller MC, Ernst T, Cross NC. Impact of BCR-ABL mutations on patients with chronic myeloid leukemia. Cell Cycle 2011; 10:250-60.

Ingle JN. Pharmacogenetics and pharmacogenomics of endocrine agents for breast cancer. Breast Cancer Res 2008; 10:17.

Kwan TK, Ma ES, Chan YY et al. BCR-ABL mutational studies for predicting the response of patients with chronic myeloid leukaemia to second-generation tyrosine kinase inhibitors after imatinib failure. Hong Kong Med J 2009; 15:365-73.

Luo B, Cheung HW, Subramanian A et al. Highly parallel identification of essential genes in cancer cells. Proc Natl Acad Sci USA 2008; 105:20380-5.

Masui T, Hashimoto R, Kusumi I et al. A possible association between missense polymorphism of the breakpoint cluster region gene and lithium prophylaxis in bipolar disorder. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32:204-8.

Schmidt S, Gastl G, Wolf D. Possible role for gene expression profiling in predicting responses to conventional or targeted drugs in patients with chronic myeloid leukemia. Leuk Lymphoma 2008; 49:643-7.

BDKRB2 (bradykinin receptor B2)

AbdAlla S, Lother H, Quitterer U. AT (1)-receptor heterodimers show enhanced G-protein activation and altered receptor sequestration. Nature 2000; 407:94-8.

Austinat M, Braeuninger S, Pesquero JB et al. Blockade of bradykinin receptor B1 but not bradykinin receptor B2 provides protection from cerebral infarction and brain edema. Stroke 2009; 40:285-93.

Braun A, Kammerer S, Bohme E, Muller B, Roscher AA. Identification of polymorphic sites of the human bradykinin B (2) receptor gene. Biochem Biophys Res Commun 1995; 211:234-40.

Cui J, Melista E, Chazaro I et al. Sequence variation of bradykinin receptors B1 and B2 and association with hypertension. J Hypertens 2005; 23:55-62.

Erdmann J, Hegemann N, Weidemann A et al. Screening the human bradykinin B2 receptor gene in patients with cardiovascular diseases: identification of a functional mutation in the promoter and a new coding variant (T21M). Am J Med Genet 1998; 80:521-5.

Erdös EG, Tan F, Skidgel RA. Angiotensin I-converting enzyme inhibitors are allosteric enhancers of kinin B1 and B2 receptor function. Hypertension 2010; 55:214-20.

Kakoki M, McGarrah RW, Kim HS, Smithies O. Bradykinin B1 and B2 receptors both have protective roles in renal ischemia/reperfusion injury. Proc Nat Acad Sci USA 2007; 104:7576-81.

Kammerer S, Braun A, Arnold N, Roscher AA. The human bradykinin B(2) receptor gene: full length cDNA, genomic organization and identification of the regulatory region. Biochem Biophys Res Commun 1995; 211:226-33.

Ma J, Wang D, Ward DC et al. Structure and chromosomal localization of the gene (BDKRB2) encoding human bradykinin B2 receptor. Genomics 1994; 23:362-9.

Powell SJ, Slynn G, Thomas C, Hopkins B, Briggs I, Graham A. Human bradykinin B2 receptor: nucleotide sequence analysis and assignment to chromosome 14. Genomics 1993; 15:435-8.

Pretorius MM, Gainer JV, van Guilder GP et al. The bradykinin type 2 receptor BE1 polymorphism and ethnicity influence systolic blood pressure and vascular resistance. Clin Pharmacol Ther 2008; 83:122-9.

Souza DG, Lomez ESL, Pinho V et al. Role of bradykinin B(2) and B(1) receptors in the local, remote, and systemic inflammatory responses that follow intestinal ischemia and reperfusion injury. J Immunol 2004; 172:2542-8.

Taketo M, Yokoyama S, Rochelle J et al. Mouse B2 bradykinin receptor gene maps to distal chromosome 12. Genomics 1995; 27:222-3.

Xi L, Das A, Zhao ZQ, Merino VF, Bader M, Kukreja RC. Loss of myocardial ischemic postconditioning in adenosine A1 and bradykinin B2 receptors gene knockout mice. Circulation 2008; 118(14 Suppl):32-7.

BDNF (brain-derived neurotrophic factor)

Aureli A, del Beato T, Sebastiani P et al. Attention-deficit hyperactivity disorder and intellectual disability: a study of association with brain-derived neurotrophic factor gene polymorphisms. Int J Immunopathol Pharmacol 2010; 23:873-80.

Cattaneo A, Bocchio-Chiavetto L, Zanardini R, Milanesi E, Placentino A, Gennarelli M. Reduced peripheral brain-derived neurotrophic factor mRNA levels are normalized by antidepressant treatment. Int J Neuropsychopharmacol 2010; 13:103-8.

de Cid R, Fonseca F, Gratacòs M et al. BDNF variability in opioid addicts and response to methadone treatment: preliminary findings. Genes Brain Behav 2008; 7:515-22.

Dmitrzak-Weglarz M, Rybakowski JK, Suwalska A et al. Association studies of the BDNF and the NTRK2 gene polymorphisms with prophylactic lithium response in bipolar patients. Pharmacogenomics 2008; 9:1595-603.

Drago A, de Ronchi D, Serretti A. Pharmacogenetics of antidepressant response: an update. Hum Genomics 2009; 3:257-74.

Haile CN, Kosten TR, Kosten TA. Pharmacogenetic treatments for drug addiction: cocaine, amphetamine and methamphetamine. Am J Drug Alcohol Abuse 2009; 35:161-77.

Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007; 61:3-19.

Kocabas NA, Antonijevic I, Faghel C et al. Brain-derived neurotrophic factor gene polymorphisms: influence on treatment response phenotypes of major depressive disorder. Int Clin Psychopharmacol 2011; 26:1-10.

Lee MS. Role of genetic polymorphisms related to neurotransmitters and cytochrome P-450 enzymes in response to antidepressants. Drugs Today 2007; 43:569-81.

Licinio J, Dong C, Wong ML. Novel sequence variations in the brain-derived neurotrophic factor gene and association with major depression and antidepressant treatment response. Arch Gen Psychiatry 2009; 66:488-97.

Moreau C, Destée A. A new perspective on brain derived neurotrophin factor polymorphism in L-dopa induced dyskinesia. J Neurol Neurosurg Psychiatry 2009; 80:129.

Neves FS, Malloy-Diniz L, Romano-Silva MA et al. The role of BDNF genetic polymorphisms in bipolar disorder with psychiatric comorbidities. J Affect Disord 2011; 131:307-11.

Park SW, Lee JG, Kong BG et al. Genetic association of BDNF val66met and GSK-3beta-50T/C polymorphisms with tardive dyskinesia. Psychiatry Clin Neurosci 2009; 63:433-9.

Perroud N, Aitchison KJ, Uher R et al. Genetic predictors of increase in suicidal ideation during antidepressant treatment in the GENDEP project. Neuropsychopharmacology 2009; 34:2517-28.

Sun RF, Zhu YS, Kuang WJ, Liu Y, Li SB. The G-712A polymorphism of brain-derived neurotrophic factor is associated with major depression but not schizophrenia. Neurosci Lett 2011; 489:34-7.

Tsai SJ, Hong CJ, Liou YJ. Brain-derived neurotrophic factor and antidepressant action: another piece of evidence from pharmacogenetics. Pharmacogenomics 2008; 9:1353-8.

Xie B, Wang B, Suo P et al. Genetic association between BDNF gene polymorphisms and phobic disorders: A case-control study among mainland Han Chinese. J Affect Disord 2011; 132:239-42.

Xu C, Wang Z, Fan M et al. Effects of BDNF Val66Met polymorphism on brain metabolism in Alzheimer’s disease. Neuroreport 2010; 21:802-7.

Xu M, Li S, Xing Q et al. Genetic variants in the BDNF gene and therapeutic response to risperidone in schizophrenia patients: a pharmacogenetic study. Eur J Hum Genet 2010; 18:707-12.

Xu MQ, St Clair D, Feng GY et al. BDNF gene is a genetic risk factor for schizophrenia and is related to the chlorpromazine-induced extrapyramidal syndrome in the Chinese population. Pharmacogenet Genomics 2008; 18:449-57.

Yu H, Wang Y, Pattwell S et al. Variant BDNF Val66Met polymorphism affects extinction of conditioned aversive memory. J Neurosci 2009; 29:4056-64.

Zou YF, Wang Y, Liu P et al. Association of BDNF Val66Met polymorphism with both baseline HRQOL scores and improvement in HRQOL scores in Chinese major depressive patients treated with fluoxetine. Hum Psychopharmacol 2010; 25:145-52.

Zou YF, Wang Y, Liu P et al. Association of brain-derived neurotrophic factor genetic Val66Met polymorphism with severity of depression, efficacy of fluoxetine and its side effects in Chinese major depressive patients. Neuropsychobiology 2010; 61:71-8.

BLK (B lymphoid tyrosine kinase)

Borowiec M, Liew CW, Thompson R et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci USA 2009; 106:14460-5.

Coultas L, Bouillet P, Stanley EG, Brodnicki TC, Adams JM, Strasser A. Proapoptotic BH3-only Bcl-2 family member Blk is expressed in hemopoietic and endothelial cells but is redundant for their programmed death. Mol Cell Biol 2004; 24:1570-81.

Fan Y, Tao JH, Zhang LP, Li LH, Ye DQ. Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis. Mol Biol Rep 2011; 38:4445-53.

Gourh P, Agarwal SK, Martin E et al. Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations. J Autoimmun 2010; 34:155-62.

Gregersen PK, Amos CI, Lee AT et al. REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. Nat Genet 2009; 41:820-3.

Hom G, Graham RR, Modrek B et al. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358:900-9.

Ito I, Kawaguchi Y, Kawasaki A et al. Association of the FAM167A-BLK region with systemic sclerosis. Arthritis Rheum 2010; 62:890-5.

Ito I, Kawasaki A, Ito S et al. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. Arthritis Rheum 2009; 60:553-8.

Ito I, Kawasaki A, Ito S et al. Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population. Ann Rheum Dis 2010; 69:936-7.

Malek SN, Dordai DI, Reim J, Dintzis H, Desiderio S. Malignant transformation of early lymphoid progenitors in mice expressing an activated Blk tyrosine kinase. Proc Natl Acad Sci USA 1998; 95:7351-6.

Yin H, Borghi MO, Delgado-Vega AM, Tincani A, Meroni PL, Alarcón-Riquelme ME. Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome. Arthritis Rheum 2009; 60:2468-71.

BLMH (bleomycin hydrolase)

de Haas EC, Zwart N, Meijer C et al. Variation in bleomycin hydrolase gene is associated with reduced survival after chemotherapy for testicular germ cell cancer. J Clin Oncol 2008; 26:1817-23.

Ratovitski T, Chighladze E, Waldron E, Hirschhorn RR, Ross CA. Cysteine proteases bleomycin hydrolase (BLMH) and cathepsin Z mediate N-terminal proteolysis and toxicity of mutant huntingtin. J Biol Chem 2011; 286:12578-89.

Smach MA, Charfeddine B, Lammouchi T et al. Analysis of association between bleomycin hydrolase and apolipoprotein E polymorphism in Alzheimer’s disease. Neurol Sci 2010; 31:687-91.

BMPR2 (bone morphogenetic protein receptor, type II (serine/threonine kinase))

Ashley-Koch AE, Elliott L, Kail ME et al. Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood 2008; 111:5721-6.

Baloira A, Vilariño C, Leiro V, Valverde D. Mutations in the gene encoding bone morphogenetic protein receptor 2 in patients with idiopathic pulmonary arterial hypertension. Arch Bronconeumol 2008; 44:29-34.

Eddahibi S, Adnot S. Serotonin and pulmonary arterial hypertension. Rev Mal Respir 2006; 23:45-51.

Hong KH, Lee YJ, Lee E et al. Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension. Circulation 2008; 118:722-30.

Humbert M, Deng Z, Simonneau G et al. BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives. Eur Respir J 2002; 20:518-23.

Schleinitz D, Klöting N, Böttcher Y et al. Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of Obesity. PLoS One 2011. doi:10. 1371/journal. pone. 0016155.

Slattery ML, Lundgreen A, Herrick JS et al. Genetic variation in bone morphogenetic protein (BMP) and colon and rectal cancer. Int J Cancer 2011. doi:10. 1002/ijc. 26047.

BRAF (v-raf murine sarcoma viral oncogene homolog B1)

Goel VK, Ibrahim N, Jiang G et al. Melanocytic nevus-like hyperplasia and melanoma in transgenic BRAFV600E mice. Oncogene 2009; 28:2289-98.

Huang RS, Duan S, Kistner EO, Hartford CM, Dolan ME. Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans. Mol Cancer Ther 2008; 7:3038-46.

Hutchins G, Southward K, Handley K et al. Value of mismatch repair, KRAS, and BRAF mutations in predicting recurrence and benefits from chemotherapy in colorectal cancer. J Clin Oncol 2011; 29:1261-70.

Landi MT, Bauer J, Pfeiffer RM et al. MC1R germline variants confer risk for BRAF-mutant melanoma. Science 2006; 313:521-2.

Pratilas CA, Solit DB. Therapeutic strategies for targeting BRAF in human cancer. Rev Recent Clin Trials 2007; 2:121-34.

Razzaque MA, Nishizawa T, Komoike Y et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007; 39:1013-7.

Rodriguez-Viciana P, Tetsu O, Tidyman WE et al. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 2006; 311:1287-90.

Shen H, Yuan Y, Hu HG et al. Clinical significance of K-ras and BRAF mutations in Chinese colorectal cancer patients. World J Gastroenterol 2011; 17:809-16.

Smith AG, Lim W, Pearen M, Muscat GE, Sturm RA. Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells. Pigment Cell Melanoma Res 2011; 24:551-63.

BRCA1 (breast cancer 1, early onset)

Albertsen H, Plaetke R, Ballard L et al. Genetic mapping of the BRCA1 region on chromosome 17q21. Am J Hum Genet 1994; 54:516-25.

Anderson SF, Schlegel BP, Nakajima T, Wolpin ES, Parvin JD. BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A. Nat Genet 1998; 19:254-6.

Antoniou A, Pharoah PDP, Narod S et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003; 72:1117-30.

Antoniou AC, Spurdle AB, Sinilnikova OM et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008; 82:937-48.

Bergman A, Einbeigi Z, Olofsson U et al. The western Swedish BRCA1 founder mutation 3171ins5; a 3. 7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation. Eur J Hum Genet 2001; 9:787-93.

Bhavani V, Srinivasulu M, Ahuja YR, Hasan Q. Role of BRCA1, HSD17B1 and HSD17B2 methylation in breast cancer tissue. Cancer Biomark 2009; 5:207-13.

Buisson M, Anczukow O, Zetoune AB, Ware MD, Mazoyer S. The 185delAG mutation (c. 68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon. Hum Mutat 2006; 27:1024-9.

Byrski T, Gronwald J, Huzarski T et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010; 28:375-9.

Castilla LH, Couch FJ, Erdos MR et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994; 8:387-91.

Comen E, Davids M, Kirchhoff T, Hudis C, Offit K, Robson M. Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi Women. Breast Cancer Res Treat 2011; 129:185-90.

Cvelbar M, Hocevar M, Vidmar G, Teugels E. BRCA1/2 status and clinicopathologic characteristics of patients with double primary breast and ovarian cancer. Neoplasma 2011; 58:198-204.

Deng CX, Wang RH. Roles of BRCA1 in DNA damage repair: a link between development and cancer. Hum Molec Genet 2003; 12:113-23.

Easton DF, Bishop DT, Ford D, Crockford GP. Breast Cancer Linkage Consortium: Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 1993; 52:678-701.

Easton DF, Deffenbaugh AM, Pruss D et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007; 81:873-83.

Fakkert IE, Jansen L, Meijer K et al. Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy. Breast Cancer Res Treat 2011; 129:157-64.

Falandry C, Canney PA, Freyer G, Dirix LY. Role of combination therapy with aromatase and cyclooxygenase-2 inhibitors in patients with metastatic breast cancer. Ann Oncol 2009; 20:615-20.

Furuta S, Jiang X, Gu B, Cheng E, Chen PL, Lee WH. Depletion of BRCA1 impairs differentiation but enhances proliferation of mammary epithelial cells. Proc Nat Acad Sci USA 2005; 102:9176-81.

Harris RE. Cyclooxygenase-2 (cox-2) blockade in the chemoprevention of cancers of the colon, breast, prostate, and lung. Inflammopharmacology 2009; 17:55-67.

Lapointe J, Abdous B, Camden S et al. Influence of the family cluster effect on psychosocial variables in families undergoing BRCA1/2 genetic testing for cancer susceptibility. Psychooncology 2011. doi:10. 1002/pon. 1936.

Ma Y, Fan S, Hu C et al. BRCA1 regulates acetylation and ubiquitination of estrogen receptor-alpha. Mol Endocrinol 2010; 24:76-90.

Neuhausen SL, Mazoyer S, Friedman L et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. Am J Hum Genet 1996; 58:271-80.

Poole AJ, Li Y, Kim Y et al. Prevention of Brca1-mediated mammary tumorigenesis in mice by a progesterone antagonist. Science 2006; 314:1467-70.

Rusin M, Zajkowicz A, Butkiewicz D. Resveratrol induces senescence-like growth inhibition of U-2 OS cells associated with the instability of telomeric DNA and upregulation of BRCA1. Mech Ageing Dev 2009; 130:528-37.

Saleh EM, El-Awady RA, Abdel Alim MA, Abdel Wahab AH. Altered expression of proliferation-inducing and proliferation-inhibiting genes might contribute to acquired doxorubicin resistance in breast cancer cells. Cell Biochem Biophys 2009; 55:95-105.

Schuyer M, Berns EM. Is TP53 dysfunction required for BRCA1-associated carcinogenesis? Molec Cell Endocr 1999; 155:143-52.

Smith A, Moran A, Boyd MC et al. Phenocopies in BRCA1 and BRCA2 families; evidence for modifier genes and implications for screening. J Med Genet 2007; 44:10-5.

Sobolewski C, Cerella C, Dicato M, Ghibelli L, Diederich M. The role of cyclooxygenase-2 in cell proliferation and cell death in human malignancies. Int J Cell Biol 2010. doi:10. 1155/2010/215158.

Spurdle M, Marquart L, McGuffog L et al. Common genetic variation at BARD1 is not associated with Breast cancer risk in BRCA1 or BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev 2011; 20:1032-8.

Tan-Wong SM, French JD, Proudfoot NJ, Brown MA. Dynamic interactions between the promoter and terminator regions of the mammalian BRCA1 gene. Proc Nat Acad Sci USA 2008; 105:5160-5.

Wang RH, Zheng Y, Kim HS et al. Interplay among BRCA1, SIRT1, and Survivin during BRCA1-associated tumorigenesis. Mol Cell 2008; 32:11-20.

Whiley P, Guidugli L, Walker L et al. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat 2011; 32:678-87.

Xing D, Scangas G, Nitta M et al. A role for BRCA1 in uterine leiomyosarcoma. Cancer Res 2009; 69:8231-5.

Zhong Q, Chen CF, Li S et al. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science 1999; 285:747-50.

BRCA2 (breast cancer 2, early onset)

Antoniou AC, Spurdle AB, Sinilnikova OM et al. Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet 2008; 82:937-48.

Breast Cancer Linkage Consortium. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 1997; 349:1505-10.

Cotroneo MS, Haag JD, Zan Y et al. Characterizing a rat Brca2 knockout model. Oncogene 2007; 26:1626-35.

Cvelbar M, Hocevar M, Vidmar G, Teugels E. BRCA1/2 status and clinicopathologic characteristics of patients with double primary breast and ovarian cancer. Neoplasma 2011; 58:198-204.

Daley D, Lewis S, Platzer P et al. Identification of susceptibility genes for cancer in a genome-wide scan: results from the colon neoplasia sibling study. Am J Hum Genet 2008; 82:723-36.

Fakkert IE, Jansen L, Meijer K et al. Breast cancer screening in BRCA1 and BRCA2 mutation carriers after risk reducing salpingo-oophorectomy. Breast Cancer Res Treat 2011; 129:157-64.

Fustier P, Le Corre L, Chalabi N et al. Resveratrol increases BRCA1 and BRCA2 mRNA expression in breast tumour cell lines. Br J Cancer 2003; 89:168-72.

Gronwald J, Tung N, Foulkes WD et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2006; 118:2281-4.

Ko E, Lee J, Lee H. Essential role of brc-2 in chromosome integrity of germ cells in C. elegans. Mol Cells 2008; 26:590-4.

Lakhani SR, Jacquemier J, Sloane JP et al. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J Natl Cancer Inst 1998; 90:1138-45.

Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 2004; 22:735-42.

Nicoletto MO, Bertorelle R, Borgato L et al. Family history of cancer rather than p53 status predicts efficacy of pegylated liposomal doxorubicin and oxaliplatin in relapsed ovarian cancer. Int J Gynecol Cancer 2009; 19:1022-8.

Park PG, Lee H. Development of thymic lymphomas in mice disrupted of Brca2 allele in the thymus. Exp Mol Med 2008; 40:339-44.

Ramus SJ, Harrington PA, Pye C et al. Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. Hum Mutat 2007; 28:1207-15.

Sakai W, Swisher EM, Karlan BY et al. Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. Nature 2008; 451:1116-20.

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