Rosemary L. Balleine

ORCID: 0000-0003-2864-4345
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
Research Areas
  • Estrogen and related hormone effects
  • Cancer Genomics and Diagnostics
  • Ovarian cancer diagnosis and treatment
  • BRCA gene mutations in cancer
  • Breast Cancer Treatment Studies
  • Pharmacogenetics and Drug Metabolism
  • HER2/EGFR in Cancer Research
  • Drug Transport and Resistance Mechanisms
  • Receptor Mechanisms and Signaling
  • Inflammatory mediators and NSAID effects
  • Genetic factors in colorectal cancer
  • Genetic Associations and Epidemiology
  • Gene expression and cancer classification
  • Advanced Proteomics Techniques and Applications
  • Computational Drug Discovery Methods
  • Genomic variations and chromosomal abnormalities
  • DNA Repair Mechanisms
  • Cancer-related molecular mechanisms research
  • Nutrition, Genetics, and Disease
  • Genomics and Chromatin Dynamics
  • Cancer Cells and Metastasis
  • Breast Lesions and Carcinomas
  • Molecular Biology Techniques and Applications
  • PARP inhibition in cancer therapy
  • Cancer Mechanisms and Therapy

The University of Sydney
2014-2025

Children's Medical Research Institute
2018-2025

Westmead Institute for Medical Research
2013-2024

Westmead Institute
2008-2023

Westmead Hospital
2007-2023

Sydney South West Area Health Service
2008-2023

New South Wales Department of Health
2021

Peter MacCallum Cancer Centre
2021

Royal Prince Alfred Hospital
2005-2018

Roche (Switzerland)
2018

Christopher A. Haiman Gary K. Chen Celine M. Vachon Federico Canzian Alison M. Dunning and 95 more Robert C. Millikan Xianshu Wang Foluso O. Ademuyiwa Shahana Ahmed Christine B. Ambrosone Laura Baglietto Rosemary L. Balleine Elisa V. Bandera Matthias W. Beckmann Christine D. Berg Leslie Bernstein Carl Blomqvist William J. Blot Hiltrud Brauch Julie E. Buring Lisa A. Carey Jane Carpenter Jenny Chang‐Claude Stephen J. Chanock Daniel I. Chasman Christine L. Clarke Angela Cox Simon S. Cross Sandra L. Deming Robert B. Diasio Meletios Α. Dimopoulos W. Ryan Driver Thomas Dünnebier Lorraine Durcan Diana Eccles Christopher K. Edlund Arif B. Ekici Peter A. Fasching Heather Spencer Feigelson Dieter Flesch‐Janys Florentia Fostira Asta Försti George Fountzilas Susan M. Gerty Graham G. Giles Andrew K. Godwin Paul J. Goodfellow Nikki Graham Dario Greco Ute Hamann Susan E. Hankinson Arndt Hartmann Rebecca Hein Judith Heinz Andrea Holbrook Robert N. Hoover Jennifer J. Hu David J. Hunter Sue A. Ingles Astrid Irwanto Jennifer Ivanovich Esther M. John Nicola Johnson Arja Jukkola‐Vuorinen Rudolf Kaaks Yon‐Dschun Ko Laurence N. Kolonel Irene Konstantopoulou Veli-Matti Kosma Swati Kulkarni Diether Lambrechts Adam M. Lee Loı̈c Le Marchand Timothy G. Lesnick Jianjun Liu Sara Lindström Graham J. Mann Sara Margolin Nicholas G. Martin Penelope Miron Grant W. Montgomery Heli Nevanlinna Stephan Nickels Sarah J. Nyante Curtis Olswold Julie R. Palmer Harsh B. Pathak Dimitrios Pectasides Charles M. Perou Julian Peto Paul D.P. Pharoah Loreall Pooler Michael F. Press Katri Pylkäs Timothy R. Rebbeck Jorge L. Rodriguez‐Gil Lynn Rosenberg Eric A. Ross Thomas Rüdiger Isabel dos‐Santos‐Silva

10.1038/ng.985 article EN Nature Genetics 2011-10-30

The human progesterone receptor (PR) is expressed as two isoforms, PRA and PRB, that function ligand-activated transcription factors. In vitro studies suggest the isoforms differ functionally relative levels in a target cell may determine nature magnitude of response to progesterone. However, it not known whether are normally coexpressed vivo. To understand functional significance PR isoform expression normal physiology, essential PRB same cell. This study reports development dual...

10.1210/jcem.84.8.5928 article EN The Journal of Clinical Endocrinology & Metabolism 1999-08-01

Abstract Introduction Metastases to the brain from breast cancer have a high mortality, and basal-like cancers propensity for metastases. However, mechanisms that allow cells colonize are unclear. Methods We used morphology, immunohistochemistry, gene expression somatic mutation profiling analyze 39 matched pairs of primary metastases, 22 unmatched metastases cancer, 11 non-breast 6 autopsy cases patients with multiple sites, including brain. Results Most were triple negative . The...

10.1186/bcr2603 article EN cc-by Breast Cancer Research 2010-07-06

Abstract Triple-negative breast cancers are an aggressive subtype of cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited risk identified through genome-wide association studies display heterogeneity effect among subtypes as defined by status estrogen progesterone receptors. In Triple Negative Breast Cancer Consortium (TNBCC), 22 common susceptibility variants were investigated in 2,980 Caucasian...

10.1158/0008-5472.can-11-1266 article EN Cancer Research 2011-08-16
Amanda B. Spurdle Fergus J. Couch Michael T. Parsons Lesley McGuffog Daniel Barrowdale and 95 more Manjeet K. Bolla Qin Wang Sue Healey Rita K. Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang‐Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Ian O. Ellis Debra Frost Radka Platte Jo Perkins D. Gareth Evans Louise Izatt Rosalind A. Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frédérique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary L. Balleine Katherine L. Nathanson Susan M. Domchek Kenneth Offitt Anna Jakubowska Noralane M. Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L. Andrulis Alexander Miron Thomas van Overeem Hansen Trinidad Caldés Susan L. Neuhausen Amanda E. Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K. Godwin Ana Osório Rachel E. Factor Mary Beth Terry Timothy R. Rebbeck Beth Y. Karlan Melissa C. Southey Muhammad Usman Rashid Nadine Tung Paul D.P. Pharoah Fiona M. Blows Alison M. Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K. Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A. Fasching Matthias W. Beckmann Arif B. Ekici Dennis J. Slamon Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Jenny Chang‐Claude Dieter Flesch‐Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru Muranen Päivi Heikkilä Carl Blomqvist Jonine D. Figueroa Stephen J. Chanock Louise A. Brinton

Abstract Introduction The distribution of histopathological features invasive breast tumors in BRCA1 or BRCA2 germline mutation carriers differs from that individuals with no known mutation. Histopathological thus have utility for prediction, including statistical modeling to assess pathogenicity variants uncertain clinical significance. We analyzed large pathology datasets accrued by the Consortium Investigators Modifiers /2 (CIMBA) and Breast Cancer Association (BCAC) reassess predictors...

10.1186/s13058-014-0474-y article EN cc-by Breast Cancer Research 2014-12-22

Abstract Reproducible research is the bedrock of experimental science. To enable deployment large-scale proteomics, we assess reproducibility mass spectrometry (MS) over time and across instruments develop computational methods for improving quantitative accuracy. We perform 1560 data independent acquisition (DIA)-MS runs eight samples containing known proportions ovarian prostate cancer tissue yeast, or control HEK293T cells. Replicates are run on six spectrometers operating continuously...

10.1038/s41467-020-17641-3 article EN cc-by Nature Communications 2020-07-30
Jihoon E. Joo James G. Dowty Roger L. Milne Ee Ming Wong Pierre‐Antoine Dugué and 95 more Dallas R. English John L. Hopper David E. Goldgar Graham G. Giles Melissa C. Southey Adrienne Sexton Alice Christian Alison H. Trainer Allan D. Spigelman Andrew Fellows Andrew N. Shelling Anna de Fazio Anneke C. Blackburn Ashley Crook Bettina Meiser Briony Patterson Christine L. Clarke Christobel Saunders Clare Hunt Clare L. Scott David J. Amor Deborah J. Marsh Edward Edkins Elizabeth Salisbury Eric Haan Eveline Neidermayr Finlay Macrae Gelareh Farshid Geoffrey J. Lindeman Georgia Chenevix‐Trench Graham J. Mann Grantley Gill Heather Thorne Ian Campbell Ian B. Hickie Ingrid Winship Jack Goldblatt James M. Flanagan James Kollias Jane E. Visvader Jennifer Stone Jessica Taylor Jo Burke Jodi M. Saunus John Forbes Jonathan Beesley Judy Kirk Juliet D. French Kathy Tucker Kathy H. C. Wu Kelly‐Anne Phillips Lara Lipton Leslie Andrews Elizabeth Lobb Logan C. Walker Maira Kentwell Amanda B. Spurdle Margaret C. Cummings Margaret Gleeson Marion Harris Mark A. Jenkins Mary Anne Young Martin B. Delatycki Mathew Wallis Matthew Burgess Melanie A. Price Melissa A. Brown Michael Bogwitz Michael Field Michael Friedlander Michael Gattas Mona Saleh Nicholas K. Hayward Nick Pachter Paul A. Cohen Pascal H. G. Duijf Paul A. James Peter T. Simpson Peter C.C. Fong Phyllis Butow Rachael Williams Richard Kefford Rodney J. Scott Rosemary L. Balleine Sarah‐Jane Dawson Sheau Wen Lok Shona O’Connell Sian Greening Sophie Nightingale Stacey L. Edwards Stephen B. Fox Sue‐Anne McLachlan Sunil R. Lakhani Susan N. Thomas Yoland Antill

Abstract Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable marks associated with breast by studying 25 Australian multiple-case families. Here we report genome-wide measured 210 peripheral blood samples provided family members using Infinium HumanMethylation450. develop and apply a new statistical method identify based on complex segregation analysis. estimate carrier probabilities...

10.1038/s41467-018-03058-6 article EN cc-by Nature Communications 2018-02-22

Low-grade serous ovarian carcinomas (LGSC) are Ras pathway-mutated, TP53 wild-type, and frequently associated with borderline tumors. Patients LGSCs respond poorly to platinum-based chemotherapy may benefit from pathway-targeted agents. High-grade (HGSC) TP53-mutated thought be rarely We sought determine whether histology grade 2 or 3 carcinoma was an indicator of mutation, we explored the molecular relationship between coexisting invasive histologies.We reviewed >1,200 patients identified...

10.1158/1078-0432.ccr-14-1292 article EN Clinical Cancer Research 2014-10-15

The Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) is a multidisciplinary, collaborative framework the investigation of familial breast cancer. Based in Australia, primary aim kConFab to facilitate high-quality research by amassing large and comprehensive resource epidemiological clinical data with biospecimens from individuals at high risk and/or ovarian cancer, their close relatives. Epidemiological, family history lifestyle data, as well...

10.1186/bcr1377 article EN cc-by Breast Cancer Research 2006-02-01

The aim of this study was to explore the impact individual variation in drug elimination on imatinib disposition. Twenty-two patients with gastrointestinal stromal tumor or chronic myeloid leukemia initially received 600 mg daily dosage subsequently toxicity adjusted. Pharmacokinetic parameters day 1 and at steady-state were compared phenotype single-nucleotide polymorphisms CYP3A5 ABCB1. A fivefold estimated clearance (CL/F) present mean CL/F had fallen by 26% steady state. This reduction...

10.1038/sj.clpt.6100201 article EN Clinical Pharmacology & Therapeutics 2007-05-09

Proliferation in the nonpregnant human breast is highest luteal phase of menstrual cycle when serum progesterone levels are high, and exposure to analogues hormone replacement therapy known elevate cancer risk, yet proliferative effects poorly understood. In a model normal breast, we have shown that increased incorporation 5-bromo-2′-deoxyuridine cell numbers by activation pathways involved DNA replication licensing, including E2F transcription factors, chromatin licensing factor 1 (Cdt1),...

10.1210/en.2008-1630 article EN Endocrinology 2009-04-02

Endoxifen is the major mediator of tamoxifen effect and endoxifen levels <15 nmol/L may be associated with increased risk breast cancer recurrence. We dose in patients low assessed influence various parameters on reaching 15 30 levels.Tamoxifen was those below nmol/L. Toxicity, including hot flash score, measured. CYP2D6 metabolizer status classified as ultra-rapid (UM), extensive (EM), intermediate (IM), or poor (PM) based genotype somatic DNA.Dosage escalated 68 122 participants. On 20 mg...

10.1158/1078-0432.ccr-15-1470 article EN Clinical Cancer Research 2016-02-05
Cristina Fortuño Bing Feng Courtney Carroll Giovanni Innella Wendy Kohlmann and 95 more Conxi Lázaro Joan Brunet Lídia Feliubadaló Sílvia Iglesias Mireia Menéndez Àlex Teulé Mandy L. Ballinger David M. Thomas Ainsley Campbell Mike Field Marion Harris Judy Kirk Nicholas Pachter Nicola Poplawski Rachel Susman Kathy Tucker Mathew Wallis Rachel Williams Elisa J. Cops David E. Goldgar Paul A. James Amanda B. Spurdle David J. Amor Lesley Andrews Yoland Antill Rosemary L. Balleine Jonathan Beesley Ian Bennett Michael Bogwitz Simon Bodek Leon Botes Meagan Brennan Melissa A. Brown Michael F. Buckley Jo Burke Phyllis Butow Liz Caldon Ian Campbell Michelle Cao Anannya Chakrabarti Deepa Chauhan Manisha Chauhan Georgia Chenevix‐Trench Alice Christian Paul A. Cohen Alison Colley Ashley Crook James Cui Eliza Courtney Margaret C. Cummings Sarah‐Jane Dawson Anna deFazio Martin Delatycki Rebecca Dickson Joanne Dixon Ted Edkins Stacey L. Edwards Gelareh Farshid Andrew Fellows Georgina Fenton Michael Field James M. Flanagan Peter C.C. Fong Laura Forrest Stephen B. Fox Juliet D. French Michael Friedlander Clara Gaff Mike Gattas Peter George Sian Greening Marion Harris Stewart Hart Nicholas K. Hayward John L. Hopper Cass Hoskins Clare Hunt Paul A. James Mark A. Jenkins Alexa Kidd Judy Kirk Jessica Koehler James Kollias Sunil R. Lakhani Mitchell Lawrence Jason S. Lee Shuai Li Geoffrey J. Lindeman Jocelyn Lippey Lara Lipton Liz Lobb Sherene Loi Graham J. Mann Deborah J. Marsh Sue Anne McLachlan

PURPOSE Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant TP53 gene is essential to determine most effective clinical management strategies. These also permit optimal use cosegregation data classification variants unknown significance. Penetrance estimation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed previous studies. MATERIALS AND METHODS...

10.1200/po.23.00453 article EN JCO Precision Oncology 2024-02-01

The human progesterone receptor (PR) expressed as two isoforms, PRA and PRB, which function ligand-activated transcription factors. In-vitro studies suggest that the isoforms differ functionally their relative expression in a target cell may determine nature magnitude of response progesterone. We have shown recently PRB are co-expressed cells endometrium. purpose this study was to investigate homogeneity uterus throughout menstrual cycle. In functionalis, were comparable levels glandular...

10.1093/humrep/15.suppl_3.48 article EN Human Reproduction 2000-08-01

Abstract Recurrent chromosome 8q gain in ovarian carcinoma is likely to reflect the existence of multiple target loci, as separate bands 8q21 and 8q24 has been reported independent studies. Since tumor protein D52 ( TPD52 ) identified a amplification breast prostate carcinoma, we compared expression normal epithelium n = 9), benign serous adenomas 11), borderline tumors 6) invasive carcinomas major histologic subtypes 57) using immunohistochemistry. These analyses revealed that all samples...

10.1002/ijc.21250 article EN International Journal of Cancer 2005-06-28

To evaluate the utility of Ki67 as a prognostic marker in series patients with node-negative breast cancer untreated adjuvant systemic therapy.The cohort consisted 203 cases treated conserving surgery and radiation only; median follow-up was 183 months (range 156-277 months). An immunohistochemical panel oestrogen receptor (ER), progesterone (PR), cytokeratin (CK)5/6 human epidermal growth factor 2 situ hybridization (HER2-ISH) performed on tumour samples. scores were evaluable 193/203...

10.1136/jclinpath-2013-201793 article EN cc-by-nc Journal of Clinical Pathology 2014-01-08
Anqi Li Felipe C. Geyer Pedro Blecua Ju Youn Lee Pier Selenica and 95 more David Brown Fresia Pareja Simon S. K. Lee Rahul Kumar Bárbara Rivera Rui Bi Salvatore Piscuoglio Hannah Y. Wen John R. Lozada Rodrigo Gularte‐Mérida Luca Cavallone Zoulikha Rezoug Tú Nguyen‐Dumont Paolo Peterlongo Carlo Tondini Thorkild Terkelsen Karina Rønlund Susanne E. Boonen Arto Mannerma Robert Winqvist Markéta Janatová Pathmanathan Rajadurai Bing Xia Larry Norton Mark E. Robson Pei-Sze Ng Lai‐Meng Looi Melissa C. Southey Britta Weigelt Teo Soo-Hwang Marc Tischkowitz William D. Foulkes Jorge S. Reis‐Filho Morteza Aghmesheh David J. Amor Leslie Andrews Yoland Antill Rosemary L. Balleine Jonathan Beesley Anneke C. Blackburn Michael Bogwitz Matthew A. Brown Matthew Burgess Jo Burke Phyllis Butow Liz Caldon Ian Campbell Alice Christian Christine L. Clarke Paul A. Cohen Ashley Crook James Cui Margaret C. Cummings Sarah‐Jane Dawson Anna de Fazio Martin B. Delatycki Alexander Dobrovic Tracy Dudding Pascal H. G. Duijf Edward Edkins Stacey L. Edwards Gelareh Farshid Andrew Fellows Michael Field James M. Flanagan Peter C.C. Fong John Forbes Laura Forrest Stephen B. Fox Juliet D. French Michael Friedlander David Gallego‐Ortega Michael Gattas Graham G. Giles Grantley Gill Margaret Gleeson Sian Greening Eric Haan Marion Harris Nicholas K. Hayward Ian B. Hickie John L. Hopper Clare Hunt Paul A. James Mark A. Jenkins Richard Kefford Maira Kentwell Judy Kirk James Kollias Sunil R. Lakhani Geoffrey J. Lindeman Lara Lipton Lizz Lobb Sheau Wen Lok Finlay Macrea

Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk breast cancer development, consistent with role PALB2 homologous recombination (HR) DNA repair. Here, we sought define repertoire somatic genetic alterations PALB2-associated cancers (BCs), and whether BCs display bi-allelic inactivation and/or genomic features HR-deficiency (HRD). Twenty-four patients mutations were analyzed by whole-exome sequencing (WES, n = 16) or...

10.1038/s41523-019-0115-9 article EN cc-by npj Breast Cancer 2019-08-08
Thomas U. Ahearn Haoyu Zhang Kyriaki Michailidou Roger L. Milne Manjeet K. Bolla and 95 more Joe Dennis Alison M. Dunning Michael Lush Qin Wang Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Kristan J. Aronson Paul L. Auer Annelie Augustinsson Adinda Baten Heiko Becher Sabine Behrens Javier Benı́tez Marina Bermisheva Carl Blomqvist Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Hiltrud Brauch Hermann Brenner Angela Brooks‐Wilson Thomas Brüning Barbara Burwinkel Saundra S. Buys Federico Canzian Jose E. Castelao Jenny Chang‐Claude Stephen J. Chanock Georgia Chenevix‐Trench Christine L. Clarke Kristine Kleivi Sahlberg Lars Ottestad Rolf Kåresen Ellen Schlichting Marit Muri Holmen Toril Sauer Vilde Drageset Haakensen Olav Engebråten Bjørn Naume Alexander Fosså Cecile E. Kiserud Kristin V. Reinertsen Åslaug Helland Margit Riis Jürgen Geisler J. Margriet Collée Angela Cox Simon S. Cross Kamila Czene Mary B. Daly Peter Devilee Thilo Dörk Miriam Dwek Diana Eccles D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Giuseppe Floris Manuela Gago‐Dominguez Susan M. Gapstur José A. García‐Sáenz Mia M. Gaudet Graham G. Giles Mark S. Goldberg Anna González‐Neira Grethe I.G. Alnæs Mervi Grip Pascal Guénel Christopher A. Haiman Per Hall Ute Hamann Elaine F. Harkness Bernadette A. M. Heemskerk‐Gerritsen Bernd Holleczek Antoinette Hollestelle Maartje J. Hooning Robert N. Hoover John L. Hopper Anthony Howell Christine L. Clarke Rosemary L. Balleine Robert C. Baxter Stephen Braye Jane Carpenter Jane E. Dahlstrom John Forbes CSoon Lee Deborah J. Marsh Adrienne Morey Nirmala Pathmanathan Rodney J. Scott Peter T. Simpson Allan D. Spigelman Nicholas Wilcken

Abstract Background Genome-wide association studies (GWAS) have identified multiple common breast cancer susceptibility variants. Many of these variants differential associations by estrogen receptor (ER) status, but how relate with other tumor features and intrinsic molecular subtypes is unclear. Methods Among 106,571 invasive cases 95,762 controls European ancestry data on 173 in previous GWAS, we used novel two-stage polytomous logistic regression models to evaluate relation (ER,...

10.1186/s13058-021-01484-x article EN cc-by Breast Cancer Research 2022-01-04
Anna Morra Nasim Mavaddat Taru Muranen Thomas U. Ahearn Jamie Allen and 95 more Irene L. Andrulis Päivi Auvinen Heiko Becher Sabine Behrens Carl Blomqvist Stig E. Bojesen Manjeet K. Bolla Hiltrud Brauch Nicola J. Camp Sara Carvalho Jose E. Castelao Melissa H. Cessna Jenny Chang‐Claude Georgia Chenevix‐Trench Kamila Czene Brennan Decker Joe Dennis Thilo Dörk Leila Dorling Alison M. Dunning Arif B. Ekici Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Henrik Flyger Manuela Gago‐Dominguez Montserrat García‐Closas Willemina R.R. Geurts-Giele Graham G. Giles Pascal Guénel Melanie Gündert Eric Hahnen Per Hall Ute Hamann Patricia Harrington Wei He Päivi Heikkilä Maartje J. Hooning Reiner Hoppe Sacha J. Howell Keith Humphreys Anna Jakubowska Audrey Jung Renske Keeman Vessela N. Kristensen Jan Lubiński Graham J. Mann Mehdi Manoochehri Siranoush Manoukian Sara Margolin Dimitrios Mavroudis Roger L. Milne Anna Marie Mulligan William G. Newman Tjoung‐Won Park‐Simon Paolo Peterlongo Paul D.P. Pharoah Valerie Rhenius Emmanouil Saloustros Elinor J. Sawyer Rita K. Schmutzler Mitul Shah Amanda B. Spurdle Ian Tomlinson Thérèse Truong Elke M. van Veen Maaike P.G. Vreeswijk Qin Wang Camilla Wendt Xiaohong R. Yang Heli Nevanlinna Peter Devilee Douglas F. Easton Marjanka K. Schmidt Kristine Kleivi Sahlberg Anne‐Lise Børresen‐Dale Inger Torhild Gram Karina Standahl Olsen Olav Engebråten Bjørn Naume Jürgen Geisler OSBREAC Grethe I.G. Alnæs David J. Amor Lesley Andrews Yoland Antill Rosemary L. Balleine Jonathan Beesley Ian Bennett Michael Bogwitz Leon Botes Meagan Brennan Melissa A. Brown Michael F. Buckley

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral (CBC) risk cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association protein-truncating (PTVs) rare missense (MSVs) nine known (ATM, BARD1, CHEK2, PALB2, RAD51C, RAD51D, TP53) 25 suspected BC-susceptibility CBC BCSS. Hazard ratios (HRs) 95% confidence intervals (CIs) were estimated Cox regression models. Analyses...

10.1016/j.ajhg.2023.02.003 article EN cc-by-nc-nd The American Journal of Human Genetics 2023-02-23
Aimee L. Davidson Kyriaki Michailidou Michael T. Parsons Cristina Fortuño Manjeet K. Bolla and 95 more Qin Wang Joe Dennis Marc Naven Mustapha Abubakar Thomas U. Ahearn M. Rosario Alonso Irene L. Andrulis Antonis C. Antoniou Päivi Auvinen Sabine Behrens Marina Bermisheva Natalia Bogdanova Stig E. Bojesen Thomas Brüning Helen Byers Nicola J. Camp Archie Campbell Jose E. Castelao Melissa H. Cessna Jenny C. Chang Stephen J. Chanock Georgia Chenevix‐Trench Kristine Kleivi Sahlberg Anne‐Lise Børresen‐Dale Inger Torhild Gram Karina Standahl Olsen Olav Engebråten Bjørn Naume Jürgen Geisler OSBREAC Grethe I.G. Alnæs J. Margriet Collée Kamila Czene Thilo Dörk Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Henrik Flyger Manuela Gago‐Dominguez Montserrat García‐Closas Gord Glendon Anna González‐Neira Felix Graßmann Jacek Gronwald Pascal Guénel Andreas Hadjisavvas Lothar Haeberle Per Hall Ute Hamann Mikael Hartman Peh Joo Ho Maartje J. Hooning Reiner Hoppe Anthony Howell David J. Amor Lesley Andrews Yoland Antill Rosemary L. Balleine Jonathan Beesley Ian Bennett Michael Bogwitz Simon Bodek Leon Botes Meagan Brennan Matthew A. Brown Michael F. Buckley Jo Burke Phyllis Butow Liz Caldon Ian Campbell Michelle Cao Anannya Chakrabarti Deepa Chauhan Manisha Chauhan Alice Christian Paul A. Cohen Alison Colley Ashley Crook James Cui Eliza Courtney Margaret C. Cummings Sarah‐Jane Dawson Anna deFazio Martin Delatycki Rebecca Dickson Joanne Dixon Stacey L. Edwards Gelareh Farshid Andrew Fellows Georgina Fenton Michael Field James M. Flanagan Peter C.C. Fong Laura Forrest

10.1016/j.ajhg.2024.07.004 article EN publisher-specific-oa The American Journal of Human Genetics 2024-08-02
Coming Soon ...