5 Papers
301 Citations
kConFab is an academic researcher from The Breast Cancer Research Foundation. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 4, co-authored 5 publications.
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Papers
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Felix R. Day,Deborah J. Thompson,Hannes Helgason,Daniel I. Chasman,Hilary K. Finucane,Patrick Sulem,Katherine S. Ruth,Sean Whalen,Abhishek Sarkar,Eva Albrecht,Elisabeth Altmaier,Marzyeh Amini,Caterina Barbieri,Thibaud Boutin,Archie Campbell,Ellen W. Demerath,Ayush Giri,Chunyan He,Jouke J. Hottenga,Robert Karlsson,Ivana Kolchic,Po-Ru Loh,Kathryn L. Lunetta,Massimo Mangino,Brumat Marco,George McMahon,Sarah E. Medland,Ilja M. Nolte,Raymond Noordam,Teresa Nutile,Lavinia Paternoster,Natalia Perjakova,Eleonora Porcu,Lynda M. Rose,Katharina E. Schraut,Ayellet V. Segrè,Albert V. Smith,Lisette Stolk,Alexander Teumer,Irene L. Andrulis,Stefania Bandinelli,Matthias W. Beckmann,Javier Benitez,Sven Bergmann,Murielle Bochud,Eric Boerwinkle,Stig E. Bojesen,Manjeet K. Bolla,Judith S. Brand,Hiltrud Brauch,Hermann Brenner,Linda Broer,Thomas Brüning,Julie E. Buring,Harry Campbell,Eulalia Catamo,Stephen J. Chanock,Georgia Chenevix-Trench,Tanguy Corre,Fergus J. Couch,Diana L. Cousminer,Angela Cox,Laura Crisponi,Kamila Czene,George Davey-Smith,Eco J. C. de Geus,Renée de Mutsert,Immaculata De Vivo,Joe Dennis,Peter Devilee,Isabel dos-Santos-Silva,Alison M. Dunning,Johan G. Eriksson,Peter A. Fasching,Lindsay Fernández-Rhodes,Luigi Ferrucci,Dieter Flesch-Janys,Lude Franke,Marike Gabrielson,Ilaria Gandin,Graham G. Giles,Harald Grallert,Daniel F. Gudbjartsson,Pascal Guéne,Perr Hall,Emily Hallberg,Ute Hamann,Tamara B. Harris,Catharina A. Hartman,Gerardo Heiss,Maartje J. Hooning,John L. Hopper,Frank B. Hu,David J. Hunter,M. Arfan Ikram,Hae Kyung Im,Marjo-Riitta Järvelin,Peter K. Joshi,David Karasik,Zoltán Kutalik,Genevieve Lachance,Diether Lambrechts,Claudia Langenberg,Lenore J. Launer,Joop S.E. Laven,Stefania Lenarduzzi,Jingmei Li,Penelope A. Lind,Sara Lindström,Yongmei Liu,Jian'an Luan,Arto Mannermaa,Hamdi Mbarek,Mark I. McCarthy,Christa Meisinger,Thomas Meitinger,Cristina Menni,Andres Metspalu,Kyriaki Michailidou,Lili Milani,Roger L. Milne,Grant W. Montgomery,Anna Marie Mulligan,Mike A. Nalls,Pau Navarro,Heli Nevanlinna,Dale R. Nyholt,Albertine J. Oldehinkel,Tracy A. O'Mara,Sandosh Padmanabhan,Aarno Palotie,Nancy L. Pedersen,Annette Peters,Julian Peto,Paul D.P. Pharoah,Anneli Pouta,Paolo Radice,Iffat Rahman,Susan M. Ring,Antonietta Robino,Frits R. Rosendaal,Igor Rudan,Rico Rueedi,Daniela Ruggiero,Cinzia Sala,Marjanka K. Schmidt,Robert A. Scott,Mitul Shah,Rossella Sorice,Melissa C. Southey,Ulla Sovio,Meir J. Stampfer,Maristella Steri,Konstantin Strauch,Toshiko Tanaka,Emmi Tikkanen,Nicholas J. Timpson,Michela Traglia,Thérèse Truong,Jonathan Tyrer,André G. Uitterlinden,Digna R. Velez Edwards,Veronique Vitart,Uwe Völker,Peter Vollenweider,Qin Wang,Elisabeth Widen,Ko Willems van Dijk,Gonneke Willemsen,Robert Winqvist,Bruce H. R. Wolffenbuttel,Jing Hua Zhao,Magdalena Zoledziewska,Marek Zygmunt,Behrooz Z. Alizadeh,Dorret I. Boomsma,Marina Ciullo,Francesco Cucca,Tõnu Esko,Nora Franceschini,Christian Gieger,Vilmundur Gudnason,Caroline Hayward,Peter Kraft,Debbie A Lawlor,Patrik K. E. Magnusson,Nicholas G. Martin,Dennis O. Mook-Kanamori,Ellen A. Nohr,Ozren Polasek,David J. Porteous,Alkes L. Price,Paul M. Ridker,Harold Snieder,Tim D. Spector,Doris Stöckl,Daniela Toniolo,Sheila Ulivi,Jenny A. Visser,Henry Völzke,Nicholas J. Wareham,James F. Wilson,Amanda B. Spurdle,Unnur Thorsteindottir,Katherine S. Pollard,Douglas F. Easton,Joyce Y. Tung,Jenny Chang-Claude,David A. Hinds,Anna Murray,Joanne M. Murabito,Kari Stefansson,Ken K. Ong,John R. B. Perry,kConFab,Aocs Investigators +215 more
- 01 Jan 2017
TL;DR: Using 1000 Genomes Project–imputed genotype data in up to ∼370,000 women, 389 independent signals for age at menarche, a milestone in female pubertal development are identified, highlighting the complexity of the genetic regulation of puberty timing and support causal links with cancer susceptibility.
229
Identification of fifteen novel germline variants in the BRCA1 3′UTR reveals a variant in a breast cancer case that introduces a functional miR‐103 target site
Brooke L. Brewster,Francesca Rossiello,Juliet D. French,Stacey L. Edwards,Ming Wong,Ania Wronski,Phillip J. Whiley,Nic Waddell,Xiaowei Chen,Betsy Bove,kConFab,John L. Hopper,Esther M. John,Irene L. Andrulis,Mary B. Daly,Sara Volorio,Loris Bernard,Bernard Peissel,Siranoush Manoukian,Monica Barile,Sara Pizzamiglio,Paolo Verderio,Amanda B. Spurdle,Paolo Radice,Andrew K. Godwin,Andrew K. Godwin,Melissa C. Southey,Melissa A. Brown,Paolo Peterlongo +28 more
TL;DR: Fifteen novel BRCA1 3′UTR variants were identified, the majority of which were unique to either cases or controls, and this is the most comprehensive identification and analysis of BRCa13′UTr variants published to date.
55
Is MSH2 a breast cancer susceptibility gene
Ee Ming Wong,Andrea Tesoriero,Gulietta M. Pupo,kConFab,Abcfs,Margaret R. E. McCredie,Graham G. Giles,John L. Hopper,Graham J. Mann,David E. Goldgar,Melissa C. Southey,Melissa C. Southey +11 more
TL;DR: Extensive screening of 59 multiple-case breast cancer families did not identify any coding region mutations or larger genomic alterations in MSH2 that might implicate MSH 2 as a breast cancer susceptibility gene.
12
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.
Melissa C. Southey,Andrea Tesoriero,Mary-Anne Young,A. J. Holloway,Mark A. Jenkins,Jonathan Whitty,S. Misfud,kConFab,Sue-Anne McLachlan,Deon J. Venter,Jane E. Armes +10 more
TL;DR: This work identified a putative splice site mutation (IVS6‐2delA) in BRCA1 in a family attending a Familial Cancer Centre that had a significant history of both breast and ovarian cancer and demonstrated that this BRCa1 variant conveyed an increased risk of breast cancer.
11
027. Mapping novel breast cancer susceptibility genes by linkage analysis of Australian multiple case kindreds
Graham J. Mann,Gulietta M. Pupo,Beth Newman,Deon J. Venter,John L. Hopper,Georgia Chenevix-Trench,kConFab +6 more
TL;DR: A large collaborative analysis of these data together with those from similar studies undertaken by members of the international Breast Cancer Linkage Consortium (BCLC) is under way and it is likely that further major breast cancer susceptibility loci will be localised in the near future.