By Professor Susan Ramus

Journal articles

Khalique L; Ayhan A; Weale ME; Jacobs IJ; Ramus SJ; Gayther SA, 2007, 'Genetic intra-tumour heterogeneity in epithelial ovarian cancer and its implications for molecular diagnosis of tumours', Journal of Pathology, 211, pp. 286 - 295, http://dx.doi.org/10.1002/path.2112

Ramus SJ; Harrington PA; Pye C; Peock S; Cook MR; Cox MJ; Jacobs IJ; DiCioccio RA; Whittemore AS; Piver MS; EMBRACE ; Easton DF; Ponder BAJ; Pharoah PDP; Gayther SA, 2007, 'Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online.', Human Mutation, 28, pp. 525 - 526, http://dx.doi.org/10.1002/humu.9493

Beesley J; Jordan SJ; Spurdle AB; Song H; Ramus SJ; Kjaer SK; Hogdall E; DiCioccio RA; McGuire V; Whittemore AS; Gayther SA; Pharoah PDP; Webb PM; Chenevix-Trench G; Australian Ovarian Cancer Study Group ; Australian Cancer Study (Ovarian Cancer) ; Australian Breast Cancer Family Study , 2007, 'Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.', Cancer Epidemiol Biomarkers Prev, 16, pp. 2557 - 2565, http://dx.doi.org/10.1158/1055-9965.EPI-07-0542

Ramus SJ; Harrington PA; Pye C; DiCioccio RA; Cox MJ; Garlinghouse-Jones K; Oakley-Girvan I; Jacobs IJ; Hardy RM; Whittemore AS; Ponder BAJ; Piver MS; Pharoah PDP; Gayther SA, 2007, 'Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.', Hum Mutat, 28, pp. 1207 - 1215, http://dx.doi.org/10.1002/humu.20599

Leach MO; Eeles R; Evans G; Easton D; Warren R; Gayther S; Ramus S; Boggis C; Lennard F; Bryant E; Warsi I; Khazen M; Pointon L; Thompson D; Amin A; Kwan-Lim G, 2007, 'O-58 The UK MARIBS study of MRI breast screening: progress on genetic and density projects', European Journal of Cancer Supplements, 5, pp. 18 - 18, http://dx.doi.org/10.1016/s1359-6349(07)71748-2

Song H; Ramus SJ; Quaye L; DiCioccio RA; Tyrer J; Lomas E; Shadforth D; Hogdall E; Hogdall C; McGuire V; Whittemore AS; Easton DF; Ponder BAJ; Kjaer SK; Pharoah PDP; Gayther SA, 2006, 'Common variants in mismatch repair genes and risk of invasive ovarian cancer', Carcinogenesis, 27, pp. 2235 - 2242, http://dx.doi.org/10.1093/carcin/bgl089

Song H; Ramus SJ; Shadforth D; Quaye L; Kjaer SK; DiCioccio RA; Dunning AM; Hogdall E; Hogdall C; Whittemore AS; McGuire V; Lesueur F; Easton DF; Jacobs IJ; Ponder BAJ; Gayther SA; Pharoah PDP, 2006, 'Common variants in RB1 gene and risk of invasive ovarian cancer', Cancer Research, 66, pp. 10220 - 10226, http://dx.doi.org/10.1158/0008-5472.CAN-06-2222

Price GR; Armes JE; Ramus SJ; Provenzano E; Kumar B; Cowie TF; Ciciulla J; Hutchins AM; Thomas M; Venter DJ, 2006, 'Phenotype-directed analysis of genotype in early-onset, familial breast cancers', Pathology, 38, pp. 520 - 527, http://dx.doi.org/10.1080/00313020601024052

Dafou D; Ramus S; Timms J; Sinclair J; Jones C; Newbold RF; Jacobs I; Gayther S; Trott DA; Kelly G, 2006, 'Identification Of Tumour Suppressor Genes In Epithelial Ovarian Cancer Using Microcell Mediated Chromosome Transfer', International Journal of Gynecological Cancer, 16, pp. 605 - 605, http://dx.doi.org/10.1136/ijgc-00009577-200610001-00023

Khalique L; Jacobs I; Ramus S; Gayther S; Ayhan A; Ayhan A; Weale ME, 2006, 'Intra Tumour Genetic Heterogeneity In Epithelial Ovarian Cancer: The Implications For Clinical Diagnostics', International Journal of Gynecological Cancer, 16, pp. 606 - 606, http://dx.doi.org/10.1136/ijgc-00009577-200610001-00025

Carley MC; Difeo A; Narla G; Camacho-Vanegas O; Martignetti JA, 2006, 'Targeting In Vivo Delivery Of Sirnas To Study The Role Of Klf6 In Epithelial Ovarian Cancer', International Journal of Gynecological Cancer, 16, pp. 605 - 605, http://dx.doi.org/10.1136/ijgc-00009577-200610001-00022

Venter DJ; Ramus SJ; Hammet FMA; De Silva M; Hutchins AM; Petrovic V; Price G; Armes JE, 2005, 'Complex CGH alterations on chromosome arm 8p at candidate tumor suppressor gene loci in breast cancer cell lines', Cancer Genetics and Cytogenetics, 160, pp. 134 - 140, http://dx.doi.org/10.1016/j.cancergencyto.2004.12.007

Whittemore AS; Balise RR; Pharoah PDP; Dicioccio RA; Oakley-Girvan I; Ramus SJ; Daly M; Usinowicz MB; Garlinghouse-Jones K; Ponder BAJ; Buys S; Senie R; Andrulis I; John E; Hopper JL; Piver MS, 2004, 'Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations.', Br J Cancer, 91, pp. 1911 - 1915, http://dx.doi.org/10.1038/sj.bjc.6602239

Rae JM; Ramus SJ; Waltham M; Armes JE; Campbell IG; Clarke R; Barndt RJ; Johnson MD; Thompson EW, 2004, 'Common origins of MDA-MB-435 cells from various sources with those shown to have melanoma properties', Clinical and Experimental Metastasis, 21, pp. 543 - 552, http://dx.doi.org/10.1007/s10585-004-3759-1

Thompson EW; Waltham M; Ramus SJ; Hutchins AM; Armes JE; Campbell IG; Williams ED; Thompson PR; Rae JM; Johnson MD; Clarke R, 2004, 'LCC15-MB cells are MDA-MB-435: A review of misidentified breast and prostate cell lines', Clinical and Experimental Metastasis, 21, pp. 535 - 541, http://dx.doi.org/10.1007/s10585-004-4117-z

Armes JE; Hammet F; De Silva M; Ciciulla J; Ramus SJ; Soo WK; Mahoney A; Yarovaya N; Henderson MA; Gish K; Hutchins AM; Price GR; Venter DJ, 2004, 'Candidate tumor-suppressor genes on chromosome arm 8p in early-onset and high-grade breast cancers', Oncogene, 23, pp. 5697 - 5702, http://dx.doi.org/10.1038/sj.onc.1207740

Werness BA; Ramus SJ; DiCioccio RA; Whittemore AS; Garlinghouse-Jones K; Oakley-Girvan I; Tsukada Y; Harrington P; Gayther SA; Ponder BAJ; Piver MS, 2004, 'Histopathology, FIGO Stage, and BRCA Mutation Status of Ovarian Cancers from the Gilda Radner Familial Ovarian Cancer Registry', International Journal of Gynecological Pathology, 23, pp. 29 - 34, http://dx.doi.org/10.1097/01.pgp.0000101083.35393.cd

Ramus SJ; Pharoah PDP; Harrington P; Pye C; Werness B; Bobrow L; Ayhan A; Wells D; Fishman A; Gore M; DiCioccio RA; Piver MS; Whittemore AS; Ponder BAJ; Gayther SA, 2003, 'BRCA1/2 mutation status influences somatic genetic progression in inherited and sporadic epithelial ovarian cancer cases.', Cancer Res, 63, pp. 417 - 423, https://www.ncbi.nlm.nih.gov/pubmed/12543797

Esteller M; Fraga MF; Guo M; Garcia-Foncillas J; Hedenfalk I; Godwin AK; Trojan J; Vaurs-Barrière C; Bignon YJ; Ramus S; Benitez J; Caldes T; Akiyama Y; Yuasa Y; Launonen V; Canal MJ; Rodriguez R; Capella G; Peinado MA; Borg A; Aaltonen LA; Ponder BA; Baylin SB; Herman JG, 2001, 'DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis', Human Molecular Genetics, 10, pp. 3001 - 3007, http://dx.doi.org/10.1093/hmg/10.26.3001

Ramus SJ; Fishman A; Pharoah PDP; Yarkoni S; Altaras M; Ponder BAJ, 2001, 'Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations', European Journal of Surgical Oncology, 27, pp. 278 - 281, http://dx.doi.org/10.1053/ejso.2000.1097

Russell PA; Pharoah PDP; De Foy K; Ramus SJ; Symmonds I; Wilson A; Scott I; Ponder BAJ; Gayther SA, 2000, 'Frequent loss of BRCA1 mRNA and protein expression in sporadic ovarian cancers', International Journal of Cancer, 87, pp. 317 - 321, http://dx.doi.org/10.1002/1097-0215(20000801)87:3<317::AID-IJC2>3.0.CO;2-B

Werness BA; Parvatiyar P; Ramus SJ; Whittemore AS; Garlinghouse-Jones K; Oakley-Girvan I; DiCioccio RA; Wiest J; Tsukada Y; Ponder BAJ; Piver MS, 2000, 'Ovarian carcinoma in situ with germline BRCA1 mutation and loss of heterozygosity at BRCA1 and TP53', Journal of the National Cancer Institute, 92, pp. 1088 - 1091, http://dx.doi.org/10.1093/jnci/92.13.1088

Werness BA; Ramus SJ; Whittemore AS; Garlinghouse-Jones K; Oakley-Girvan I; Dicioccio RA; Tsukada Y; Ponder A.J. B; Piver MS, 2000, 'Histopathology of familial ovarian tumors in women from families with and without germline BRCA1 mutations', Human Pathology, 31, pp. 1420 - 1424, http://dx.doi.org/10.1016/S0046-8177(00)80014-3

Knowles CH; Chir B; Gayther SA; Scott M; Ramus S; Anand P; Williams NS; Ponder BA, 2000, 'Idiopathic slow-transit constipation is not associated with mutations of the RET proto-oncogene or GDNF', Diseases of the Colon and Rectum, 43, pp. 851 - 857, http://dx.doi.org/10.1007/BF02238026

Werness BA; Ramus SJ; Whittemore AS; Garlinghouse-Jones K; Oakley-Girvan I; DiCioccio RA; Tsukada Y; Ponder BAJ; Piver MS, 2000, 'Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation', International Journal of Gynecological Pathology, 19, pp. 390 - 394, http://dx.doi.org/10.1097/00004347-200010000-00017

Ramus SJ; Bobrow LG; Pharoah PDP; Finnigan DS; Fishman A; Altaras M; Harrington PA; Gayther SA; Ponder BAJ; Friedman LS, 1999, 'Increased frequency of TP53 mutations in BRCAI and BRCA2 ovarian tumours', Genes Chromosomes and Cancer, 25, pp. 91 - 96, http://dx.doi.org/10.1002/(SICI)1098-2264(199906)25:2<91::AID-GCC3>3.0.CO;2-5

Csokay B; Udvarhelyi N; Sulyok Z; Besznyak I; Ramus S; Ponder B; Olah E, 1999, 'High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history.', Cancer Res, 59, pp. 995 - 998, https://www.ncbi.nlm.nih.gov/pubmed/10070953

Ramus SJ; Forrest SM; Pitt DD; Cotton RGH, 1999, 'Genotype and intellectual phenotype in untreated phenylketonuria patients', Pediatric Research, 45, pp. 474 - 481, http://dx.doi.org/10.1203/00006450-199904010-00004

Gayther SA; Gorringe KL; Ramus SJ; Huntsman D; Roviello F; Grehan N; Machado JC; Pinto E; Seruca R; Halling K; MacLeod P; Powell SM; Jackson CE; Ponder BAJ; Caldas C, 1998, 'Identification of germ-line E-cadherin mutations in gastric cancer families of European origin', Cancer Research, 58, pp. 4086 - 4089

Ramus SJ; Kote-Jarai Z; Friedman LS; Van Der Looij M; Gayther SA; Csokay B; Ponder BAJ; Olah E, 1997, 'Analysis of BRCA1 and BRCA2 mutations in hungarian families with breast or breast-ovarian cancer [4]', American Journal of Human Genetics, 60, pp. 1242 - 1246

Ramus SJ; Friedman LS; Gayther SA; Ponder BAJ; Bobrow LG; Looji MVD; Papp J; Olah E, 1997, 'A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2', Nature Genetics, 15, pp. 14 - 15, http://dx.doi.org/10.1038/ng0197-14

Ramus SJ; Cotton RGH, 1996, 'Single-tube chemical cleavage of mismatch: Successive treatment with hydroxylamine and osmium tetroxide', Biotechniques, 21, pp. 216 - 220, http://dx.doi.org/10.2144/96212bm10

Treacy E; Pitt JJ; Seller K; Thompson GN; Ramus S; Cotton RGH, 1996, 'In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings', Journal of Inherited Metabolic Disease, 19, pp. 595 - 602, http://dx.doi.org/10.1007/bf01799832

Ramus SJ; Cotton RGH, 1995, 'Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes', Human Genetics, 96, pp. 741 - 743, http://dx.doi.org/10.1007/BF00210312

Ramus SJ; Treacy EP; Cotton RGH, 1995, 'Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: Origin of alleles and haplotypes', American Journal of Human Genetics, 56, pp. 1034 - 1041

Ramus SJ; Pitt DB; Cotton RGH, 1995, 'Genotype/phenotype correlations: Intellectual phenotypes in untreated PKU patients', International Pediatrics, 10, pp. 92 - 94

Ramus SJ; Cotton RGH, 1995, 'Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT‐PCR of illegitimate transcripts and chemical cleavage of mismatch', Human Mutation, 6, pp. 250 - 251, http://dx.doi.org/10.1002/humu.1380060309

Cotton RGH; Dahl HHM; Forrest S; Howells DW; Ramus SJ; Bishop RE; Dianzani I; Saleeba JA; Palombo E; Anderson MJ; Milner CM; Campbell RD, 1993, 'Analysis of Sequence Contexts Flanking T·G Mismatches Leads to Predictions about Reactivity of the Mismatched T to Osmium Tetroxide', DNA and Cell Biology, 12, pp. 945 - 949, http://dx.doi.org/10.1089/dna.1993.12.945

Ramus SJ; Forrest SM; Pitt DB; Saleeba JA; Cotton RGH, 1993, 'Comparison of genotype and intellectual phenotype in untreated PKU patients', Journal of Medical Genetics, 30, pp. 401 - 405, http://dx.doi.org/10.1136/jmg.30.5.401

Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RGH, 1993, 'Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: Identification of a new PKU mutation', Journal of Medical Genetics, 30, pp. 228 - 231, http://dx.doi.org/10.1136/jmg.30.3.228

Ramus SJ; Forrest SM; Saleeba JA; Cotton RGH, 1992, 'CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene', Human Genetics, 90, pp. 147 - 148, http://dx.doi.org/10.1007/BF00210760

Saleeba JA; Ramus SJ; Cotton RGH, 1992, 'Complete mutation detection using unlabeled chemical cleavage', Human Mutation, 1, pp. 63 - 69, http://dx.doi.org/10.1002/humu.1380010110

Ramus SJ; Forrest SM; Cotton RGH, 1992, 'Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria', Human Mutation, 1, pp. 154 - 158, http://dx.doi.org/10.1002/humu.1380010211

Dianzani I; Ramus S; Cotton RGH; Camaschella C, 1991, 'A SPONTANEOUS MUTATION CAUSING UNSTABLE Hb HAMMERSMITH: DETECTION OF THE β42 TTT→TCT CHANGE BY CCM AND DIRECT SEQUENCING', British Journal of Haematology, 79, pp. 127 - 129, http://dx.doi.org/10.1111/j.1365-2141.1991.tb08026.x

Dianzani I; Camaschella C; Saglio G; Forrest SM; Ramus S; Cotton RGH, 1991, 'Simultaneous screening for β-thalassemia mutations by chemical cleavage of mismatch', Genomics, 11, pp. 48 - 53, http://dx.doi.org/10.1016/0888-7543(91)90100-S

Conference Papers

Zwimpfer TA; Coelho R; Au-Yeung G; Eller R; Pandey A; Fereday S; Twomey L; Ariyaratne D; Traficante N; Kennedy C; Goode EL; Group AS; Consortium OTTA; Defazio A; Heinzelmann-Schwarz V; Ramus SJ; Koebel M; Jacob F; Bowtell DDL; Garsed DW, 2025, 'Co-Amplification Of CCNE1 And AKT2 As Prognostic Biomarker And Therapeutic Target In Tubo-Ovarian High-Grade Serous Carcinoma', in International Journal of Gynecological Cancer, Elsevier, pp. 101684, http://dx.doi.org/10.1016/j.ijgc.2025.101684

Zwimpfer TA; Pandey A; Fereday S; Coelho RJB-N; Twomey L; Ariyaratne D; Traficante N; Jacob F; Eller R; Heinzelmann-Schwarz V; Christie EL; Kennedy C; Au-Yeung G; Ramus S; Koebel M; Nelson B; Goode EL; DeFazio A; Bowtell DDL; Garsed DW, 2024, 'Clinical and molecular predictors of outcome in patients with tubo-ovarian high-grade serous carcinoma and exceptional survival', in ANNALS OF ONCOLOGY, ELSEVIER, SPAIN, Barcelona, pp. S571 - S571, presented at Annual Congress of the European-Society-for-Medical-Oncology (ESMO), SPAIN, Barcelona, 13 September 2024 - 17 September 2024, http://dx.doi.org/10.1016/j.annonc.2024.08.813

Ramachandran D; Tyrer J; Kommoss S; DeFazio A; Riggan M; Schuermann P; Speith L-M; Park-Simon T-W; Hillemanns P; Pfisterer J; Berchuk A; Johnatty S; Webb P; Ramus S; Chenevix-Trench G; Pharoah P; Doerk T; Heitz F, 2024, 'Genome-wide association analyses identify candidate genes for residual disease in ovarian cancer', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, GERMANY, Berlin, pp. 1673 - 1674, presented at 57th Conference of the European-Society-of-Human-Genetics (ESHG), GERMANY, Berlin, 01 June 2024 - 04 June 2024

Tumas J; Wang G; Bateman N; Phippen N; Tian C; Kopelman Z; Hamilton C; Tarney C; Ramus S; Conrads T; Maxwell GL; Darcy K, 2024, 'Prognostic biomarker validation in high grade serous carcinoma with the ovarian tumor tissue analysis consortium and the multidisciplinary ovarian cancer outcomes group', in GYNECOLOGIC ONCOLOGY, ACADEMIC PRESS INC ELSEVIER SCIENCE, pp. S438 - S440, http://dx.doi.org/10.1016/j.ygyno.2024.07.638

Minh TP; Berchuck A; Goode EL; Goodman MT; Hanley GE; Richardson J; Grout B; Chase A; Deurloo CM; Karlan BY; Van Gorp T; Matsuo K; McLean K; Pike MC; Schildkraut JM; Terry KL; DeFazio A; Webb PM; Pharoah PDP; Ramus SJ; Pearce CL, 2022, 'Environmental factors associated with residual disease after ovarian cancer primary cytoreduction surgery', in CANCER RESEARCH, AMER ASSOC CANCER RESEARCH, LA, New Orleans, presented at Annual Meeting of the American-Association-for-Cancer-Research (AACR), LA, New Orleans, 08 April 2022 - 13 April 2022

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