Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India

References

• EastonDFBishopDTFordDCrockfordGPGenetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage ConsortiumAm J Hum Genet19935246787018460634
   PubMed Web of Science ®Google Scholar
• BroseMSRebbeckTRCalzoneKAStopferJENathansonKLWeberBLCancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation programJ Natl Cancer Inst200294181365137212237282
   PubMedGoogle Scholar
• AntoniouAPharoahPDNarodSAverage 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 studiesAm J Hum Genet20037251117113012677558
   PubMed Web of Science ®Google Scholar
• KingMCMarksJHMandellJBNew York Breast Cancer Study GroupBreast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2Science2003302564564364614576434
   PubMed Web of Science ®Google Scholar
• VaidyanathanKLakhotiaSRavishankarHMTabassumUMukherjeeGSomasundaramKBRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutationJ Biosci200934341542219805903
   PubMed Web of Science ®Google Scholar
• TaiYCDomchekSParmigianiGChenSBreast cancer risk among male BRCA1 and BRCA2 mutation carriersJ Natl Cancer Inst200799231811181418042939
   PubMed Web of Science ®Google Scholar
• NewmanBAustinMALeeMKingMCInheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk familiesProc Natl Acad Sci U S A1988859304430483362861
   PubMed Web of Science ®Google Scholar
• ChenSParmigianiGMeta-analysis of BRCA1 and BRCA2 penetranceJ Clin Oncol200725111329133317416853
   PubMed Web of Science ®Google Scholar
• BRCA Exchange [database online]UC Santa Cruz2017 Available from: http://www.brcaexchange.org/Accessed September 9, 2018
   Google Scholar
• PlonSEEcclesDMEastonDSequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsHum Mutat200829111282129118951446
   PubMed Web of Science ®Google Scholar
• MehtaABRCA1 and BRCA2 mutations in ovarian cancerJ Curr Oncol20181114
   Google Scholar
• LindorNMGuidugliLWangXA review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)Hum Mutat201233182121990134
   PubMed Web of Science ®Google Scholar
• SaxenaSChakrabortyAKaushalMContribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern IndiaBMC Med Genet200677517018160
   PubMed Web of Science ®Google Scholar
• DalyMBPilarskiRAxilbundJEGenetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015J Natl Compr Canc Netw201614215316226850485
   PubMed Web of Science ®Google Scholar
• Database of Single Nucleotide Polymorphisms (dbSNP) [homepage on the Internet]Bethesda (MD)National Center for Biotechnology Information, National Library of Medicine2001 Available from: http://www.ncbi.nlm.nih.gov/SNP/Accessed September 9, 2018
   Google Scholar
• LandrumMJLeeJMRileyGRClinVar: public archive of relationships among sequence variation and human phenotypeNucleic Acids Res201442Database issueD980D98524234437
   PubMed Web of Science ®Google Scholar
• FokkemaIFTaschnerPESchaafsmaGCCelliJLarosJFden DunnenJTLOVD v.2.0: the next generation in gene variant databasesHum Mutat201132555756321520333
   PubMed Web of Science ®Google Scholar
• SzaboCMasielloARyanJFBrodyLCThe breast cancer information core: database design, structure, and scopeHum Mutat200016212313110923033
   PubMed Web of Science ®Google Scholar
• ChristosKopanos VTKourisAChappleCEAguileraMAMeyerRMassourasAhomepage on the InternetVarSome: The human genomic variant search engineBioRxiv2018 Available from: https://www.ensembl.org/vepAccessed September 9, 2018
   Google Scholar
• MclarenWGilLHuntSEThe Ensembl Variant Effect PredictorGenome Biol201617112227268795
   PubMed Web of Science ®Google Scholar
• SchwarzJMCooperDNSchuelkeMSeelowDMutationTaster2: mutation prediction for the deep-sequencing ageNat Methods201411436136224681721
   PubMed Web of Science ®Google Scholar
• RichardsSAzizNBaleSStandards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med201517540542325741868
   PubMed Web of Science ®Google Scholar
• SuryavanshiMKumarDPanigrahiMKChowdharyMMehtaADetection of false positive mutations in BRCA gene by next generation sequencingFam Cancer201716331131727848044
   PubMed Web of Science ®Google Scholar
• HogervorstFBNederlofPMGilleJJLarge genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative methodCancer Res20036371449145312670888
   PubMed Web of Science ®Google Scholar
• MachackovaEForetovaLLukesovaMSpectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancerBMC Cancer2008814018489799
   PubMed Web of Science ®Google Scholar
• ArmaouSKonstantopoulouIAnagnostopoulosTNovel genomic rearrangements in the BRCA1 gene detected in Greek breast/ovarian cancer patientsEur J Cancer200743244345317174087
   PubMed Web of Science ®Google Scholar
• EngertSWappenschmidtBBetzBMLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset casesHum Mutat200829794895818431737
   PubMed Web of Science ®Google Scholar
• SedghiMEsfandiariEFazel-NajafabadiEGenomic rearrangement screening of the BRCA1 from seventy Iranian high-risk breast cancer familiesJ Res Med Sci2016219528163741
   PubMed Web of Science ®Google Scholar
• Zorrieh ZahraAKadkhodaSBehjatiFMutation Screening of BRCA Genes in 10 Iranian Males with Breast CancerInt J Mol Cell Med20165211412227478808
   PubMedGoogle Scholar
• Rauh-AdelmannCLauKMSabetiNLongJPMokSCHoSMAltered expression of BRCA1, BRCA2, and a newly identified BRCA2 exon 12 deletion variant in malignant human ovarian, prostate, and breast cancer cell linesMol Carcinog200028423624610972993
   PubMed Web of Science ®Google Scholar
• CeramiEGaoJDogrusozUThe cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics dataCancer Discov20122540140422588877
   PubMed Web of Science ®Google Scholar
• GaoJAksoyBADogrusozUIntegrative analysis of complex cancer genomics and clinical profiles using the cBioPortalSci Signal20136269pl123550210
   PubMed Web of Science ®Google Scholar
• RobsonMAre BRCA1- and BRCA2-associated breast cancers different? Prognosis of BRCA1-associated breast cancerJ Clin Oncol20001821 Suppl113S118S11060338
   PubMed Web of Science ®Google Scholar
• EisingerFCharafe-JauffretEJacquemierJBirnbaumDJulian-ReynierCSobolHTamoxifen and breast cancer risk in women harboring a BRCA1 germline mutation: computed efficacy, effectiveness and impactInt J Oncol200118151011115532
   PubMed Web of Science ®Google Scholar
• KingMCWieandSHaleKTamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention TrialJAMA2001286182251225611710890
   PubMed Web of Science ®Google Scholar
• LakhaniSRvan de VijverMJJacquemierJThe pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2J Clin Oncol20022092310231811981002
   PubMed Web of Science ®Google Scholar
• LipsEHDebipersadRDScheermanCEBRCA1-mutated estrogen receptor-positive breast cancer shows BRCAness, suggesting sensitivity to drugs targeting homologous recombination deficiencyClin Cancer Res20172351236124127620280
   PubMed Web of Science ®Google Scholar
• SinghJThotaNSinghSScreening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutationsBreast Cancer Res Treat2018170118919629470806
   PubMed Web of Science ®Google Scholar
• KwongAShinVYHoJCComprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countriesJ Med Genet2016531152326187060
   PubMed Web of Science ®Google Scholar
• RebbeckTRFriebelTMFriedmanEMutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsHum Mutat201839559362029446198
   PubMed Web of Science ®Google Scholar
• JudkinsTHendricksonBCDeffenbaughAMApplication of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutationsCancer Res20056521100961010316267036
   PubMed Web of Science ®Google Scholar
• MaistroSTeixeiraNEncinasGGermline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in BrazilBMC Cancer201616193427914478
   PubMedGoogle Scholar
• ValarmathiMTSawhneyMDeoSSShuklaNKdasSNNovel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer familiesHum Mutat2004232205
   PubMedGoogle Scholar
• ShahNDShahPSPanchalYYMutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patientsAppl Clin Genet201811596729785135
   PubMed Web of Science ®Google Scholar
• ThompsonERGorringeKLRowleySMReevaluation of the BRCA2 truncating allele c.9976A > T (p.Lys3326Ter) in a familial breast cancer contextSci Rep201551480026455428
   PubMed Web of Science ®Google Scholar
• MeeksHDSongHMichailidouKBRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian CancersJ Natl Cancer Inst20161082djv31526586665
   PubMedGoogle Scholar