Juliet D. French

ORCID: 0000-0002-9770-0198
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Research Areas
  • RNA modifications and cancer
  • Genomics and Chromatin Dynamics
  • RNA Research and Splicing
  • CRISPR and Genetic Engineering
  • BRCA gene mutations in cancer
  • Cancer-related molecular mechanisms research
  • Cancer Genomics and Diagnostics
  • Genetic Associations and Epidemiology
  • Epigenetics and DNA Methylation
  • Molecular Biology Techniques and Applications
  • Gene expression and cancer classification
  • Parasites and Host Interactions
  • RNA and protein synthesis mechanisms
  • Parasite Biology and Host Interactions
  • Genetic factors in colorectal cancer
  • Cancer-related gene regulation
  • DNA Repair Mechanisms
  • Bioinformatics and Genomic Networks
  • MicroRNA in disease regulation
  • Breast Cancer Treatment Studies
  • Circular RNAs in diseases
  • Animal Genetics and Reproduction
  • Genomic variations and chromosomal abnormalities
  • Genomics and Rare Diseases
  • Wnt/β-catenin signaling in development and cancer

QIMR Berghofer Medical Research Institute
2016-2025

The University of Queensland
2011-2024

Queensland University of Technology
2023-2024

Peter MacCallum Cancer Centre
2021

Kyriaki Michailidou Sara Lindström Joe Dennis Jonathan Beesley Shirley Hui and 95 more Siddhartha Kar Audrey Lemaçon Penny Soucy Dylan M. Glubb Asha Rostamianfar Manjeet K. Bolla Qin Wang Jonathan P. Tyrer Ed Dicks Andrew Lee Zhaoming Wang Jamie Allen Renske Keeman Ursula Eilber Juliet D. French Xiaohong Chen Laura Fachal Karen McCue Amy E. McCart Reed Maya Ghoussaini Jason S. Carroll Xia Jiang Hilary K. Finucane Marcia Adams Muriel A. Adank Habibul Ahsan Kristiina Aittomäki Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Banu K. Arun Paul L. Auer François Bacot Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Judith S. Brand Hiltrud Brauch Paul Brennan Hermann Brenner Louise A. Brinton Per Broberg Ian W. Brock Annegien Broeks Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Katja Butterbach Qiuyin Cai Hui Cai Trinidad Caldés Federico Canzian Ángel Carracedo Brian D. Carter Jose E. Castelao Tsun Leung Chan Ting‐Yuan David Cheng Kee Seng Chia Ji‐Yeob Choi Hans Christiansen Christine L. Clarke Margriet Collée Don Conroy Emilie Cordina‐Duverger Sten Cornelissen David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Mingajeva Elvira Christoph Engel

10.1038/nature24284 article EN Nature 2017-10-20
Stig E. Bojesen Karen A. Pooley Sharon E. Johnatty Jonathan Beesley Kyriaki Michailidou and 95 more Jonathan P. Tyrer Stacey L. Edwards Hilda A. Pickett Howard C. Shen Chanel E. Smart Kristine M. Hillman L. Phuong Kate Lawrenson Michael D. Stutz Yi Lu Rod Karevan Nicholas T. Woods Rebecca L. Johnston Juliet D. French Xiaohong Chen Maren Weischer Sune F. Nielsen Melanie Maranian Maya Ghoussaini Shahana Ahmed Caroline Baynes Manjeet K. Bolla Qin Wang Joe Dennis Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Michael Lush Daniel C. Tessier Daniel Vincent Françis Bacot Ignace Vergote Sandrina Lambrechts Evelyn Despierre Harvey A. Risch Anna González‐Neira Mary Anne Rossing Guillermo Pita Jennifer A. Doherty Núria Álvarez Melissa C. Larson Brooke L. Fridley Nils Schoof Jenny Chang‐Claude Mine Cicek Julian Peto Kimberly R. Kalli Annegien Broeks Sebastian M. Armasu Marjanka K. Schmidt Linde M. Braaf Boris Winterhoff Heli Nevanlinna Gottfried E. Konecny Diether Lambrechts Lisa Rogmann Pascal Guénel Attila Teoman Roger L. Milne Joaquín J. García Angela Cox Vijayalakshmi Shridhar Barbara Burwinkel Frederik Marmé Rebecca Hein Elinor J. Sawyer Christopher A. Haiman Shan Wang‐Gohrke Irene L. Andrulis Kirsten B. Moysich John L. Hopper Kunle Odunsi Annika Lindblom Graham G. Giles Hermann Brenner Jacques Simard Galina Lurie Peter A. Fasching Michael E. Carney Paolo Radice Lynne R. Wilkens Anthony J. Swerdlow Marc T. Goodman Hiltrud Brauch Montserrat García‐Closas Peter Hillemanns Robert Winqvist Matthias Dürst Peter Devilee Ingo B. Runnebaum Anna Jakubowska Jan Lubiński Graham J. Mann Ralf Bützow

10.1038/ng.2566 article EN Nature Genetics 2013-03-27

Long noncoding RNAs (lncRNAs) are increasingly recognized to play major regulatory roles in development and disease. To identify novel regulators breast biology, we identified differentially regulated lncRNAs during mouse mammary development. Among the highest most expressed was a transcript ( Zfas1 ) antisense 5′ end of protein-coding gene Znfx1 . In vivo, RNA is localized within ducts alveoli gland. intronically hosts three previously undescribed C/D box snoRNAs (SNORDs): Snord12 ,...

10.1261/rna.2528811 article EN RNA 2011-04-01
Juliet D. French Maya Ghoussaini Stacey L. Edwards Kerstin B. Meyer Kyriaki Michailidou and 95 more Shahana Ahmed Sofia Khan Mel Maranian Martin O’Reilly Kristine M. Hillman Joshua A. Betts Thomas Carroll Peter J. Bailey Ed Dicks Jonathan Beesley Jonathan P. Tyrer Ana-Teresa Maia Andrew Beck Nicholas Knoblauch Constance Chen Peter Kraft Daniel R. Barnes Anna González‐Neira M. Rosario Alonso Daniel Herrero Daniel C. Tessier Daniel Vincent François Bacot Craig Luccarini Caroline Baynes Don Conroy Joe Dennis Manjeet K. Bolla Qin Wang John L. Hopper Melissa C. Southey Marjanka K. Schmidt Annegien Broeks Senno Verhoef Sten Cornelissen Kenneth Muir Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Peter A. Fasching Christian R. Loehberg Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Nichola Johnson Zoe Aitken Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller Frederik Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent‐Puig F. Ménégaux Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne M. Pilar Zamora José Ignacio Arias Pérez Javier Benı́tez Hoda Anton‐Culver Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Peter Lichtner Rita K. Schmutzler Christoph Engel Hiltrud Brauch Ute Hamann Christina Justenhoven Kirsimari Aaltonen Päivi Heikkilä Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Aiko Sueta Natalia Bogdanova Natalia Antonenkova Thilo Dörk Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli-Matti Kosma

10.1016/j.ajhg.2013.01.002 article EN publisher-specific-oa The American Journal of Human Genetics 2013-03-27

Epigenetic alterations in the cancer methylome are common breast and provide novel options for tumour stratification. Here, we perform whole-genome methylation capture sequencing on small amounts of DNA isolated from formalin-fixed, paraffin-embedded tissue triple-negative (TNBC) matched normal samples. We identify differentially methylated regions (DMRs) enriched with promoters associated transcription factor binding sites hypersensitive sites. Importantly, stratify TNBCs into three...

10.1038/ncomms6899 article EN cc-by-nc-nd Nature Communications 2015-02-02

The 85-kb breast cancer-associated gene BRCA1 is an established tumor suppressor gene, but its regulation poorly understood. We demonstrate by conformation analysis in both human cell lines and mouse mammary tissue that loops are imposed on between the promoter, introns, terminator region. Significantly, association promoter regions change upon estrogen stimulation during lactational development. Loop formation transcription-dependent, suggesting transcriptional elongation plays active role...

10.1073/pnas.0801048105 article EN Proceedings of the National Academy of Sciences 2008-03-29
Kerstin B. Meyer Martin O’Reilly Kyriaki Michailidou Saskia Carlebur Stacey L. Edwards and 95 more Juliet D. French Radhika Prathalingham Joe Dennis Manjeet K. Bolla Qin Wang Inês de Santiago John L. Hopper Helen Tsimiklis Carmel Apicella Melissa C. Southey Marjanka K. Schmidt Annegien Broeks Laura van ′t Veer Frans B.L. Hogervorst Kenneth Muir Artitaya Lophatananon Sarah Stewart‐Brown Pornthep Siriwanarangsan Peter A. Fasching Michael P. Lux Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Olivia Fletcher Nichola Johnson Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller F Marmé Andreas Schneeweiß Christof Sohn Barbara Burwinkel Pascal Guénel Thérèse Truong Pierre Laurent‐Puig F. Ménégaux Stig E. Bojesen Børge G. Nordestgaard Sune F. Nielsen Henrik Flyger Roger L. Milne M. Pilar Zamora José Ignacio Arias Javier Benı́tez Susan L. Neuhausen Hoda Anton‐Culver Argyrios Ziogas Christina Clarke Dur Hermann Brenner Heiko Müller Volker Arndt Christa Stegmaier Alfons Meindl Rita K. Schmutzler Christoph Engel Nina Ditsch Hiltrud Brauch Thomas Brüning Yon‐Dschun Ko Heli Nevanlinna Taru Muranen Kristiina Aittomäki Carl Blomqvist Keitaro Matsuo Hidemi Ito Hiroji Iwata Yasushi Yatabe Thilo Dörk Sonja Helbig Natalia Bogdanova Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli-Matti Kosma Jaana M. Hartikainen Georgia Chenevix‐Trench Anna H. Wu Chiu-Chen Tseng David Van Den Berg Daniel O. Stram Diether Lambrechts Bernard Thienpont Marie‐Rose Christiaens Ann Smeets Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Paolo Radice Paolo Peterlongo Bernardo Bonanni Loris Bernard

10.1016/j.ajhg.2013.10.026 article EN publisher-specific-oa The American Journal of Human Genetics 2013-11-27
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

Schistosomiasis is a disease that significantly impacts human health in the developing world. Effective diagnostics are urgently needed for improved control of this disease. CRISPR-based technology has rapidly accelerated development revolutionary and powerful platform, resulting advancement class ultrasensitive, specific, cost-effective portable diagnostics, typified by applications COVID-19/cancer diagnosis.

10.1016/j.ebiom.2023.104730 article EN cc-by-nc-nd EBioMedicine 2023-07-22

Long noncoding RNAs (lncRNAs) have surpassed the number of protein-coding genes, yet majority no known function. We previously discovered 844 lncRNAs that were genetically linked to breast cancer through genome-wide association studies (GWAS). Here, we show a subset these alter risk by modulating cell proliferation, and provide evidence reduced expression on one lncRNA increases aberrant DNA replication repair.

10.1186/s12943-024-02021-y article EN cc-by Molecular Cancer 2024-05-15

OLIG2-expressing tumor stem cells have been shown to drive recurrence in Sonic Hedgehog (SHH)-subgroup medulloblastoma (MB) and patients urgently need specific therapies target this cell population. Here, we investigate the therapeutic potential of brain-penetrant orally bioavailable, OLIG2 inhibitor CT-179, using SHH-MB explant organoids, PDX GEM models. We find that CT-179 disrupts dimerization, phosphorylation DNA binding alters cell-cycle kinetics, increasing differentiation apoptosis....

10.1038/s41467-024-54861-3 article EN cc-by-nc-nd Nature Communications 2025-02-04

MicroRNAs (miRNAs) are small non-coding RNAs of ∼20 nt in length that capable modulating gene expression post-transcriptionally. Although miRNAs have been implicated cancer, including breast the regulation miRNA transcription and role defects this process cancer is not well understood. In study we mapped promoters 93 cancer-associated miRNAs, then looked for associations between DNA methylation 15 these cells. The with clearest association included a previously described novel promoter...

10.1038/onc.2011.584 article EN cc-by-nc-nd Oncogene 2012-01-09
Maya Ghoussaini Juliet D. French Kyriaki Michailidou Silje Nord Jonathan Beesley and 95 more Sander Canisus Kristine M. Hillman Susanne Kaufmann Haran Sivakumaran Mahdi Moradi Marjaneh Jason S. Lee Joe Dennis Manjeet K. Bolla Sophia Wang Ed Dicks Roger L. Milne John L. Hopper Melissa C. Southey Marjanka K. Schmidt Annegien Broeks Kenneth Muir Artitaya Lophatananon Peter A. Fasching Matthias W. Beckmann Olivia Fletcher Nichola Johnson Elinor J. Sawyer Ian Tomlinson Barbara Burwinkel Frederik Marmé Pascal Guénel Thérèse Truong Stig E. Bojesen Henrik Flyger Javier Benı́tez Anna González‐Neira M. Rosario Alonso Guillermo Pita Susan L. Neuhausen Hoda Anton‐Culver Hermann Brenner Volker Arndt Alfons Meindl Rita K. Schmutzler Hiltrud Brauch Ute Hamann Daniel C. Tessier Daniel Vincent Heli Nevanlinna Sofia Khan Keitaro Matsuo Hidemi Ito Thilo Dörk Natalia Bogdanova Annika Lindblom Sara Margolin Graham J. Mann Veli‐Matti Kosma Anna H. Wu David Van Den Berg Diether Lambrechts Giuseppe Floris Jenny Chang‐Claude Anja Rudolph Paolo Radice Monica Barile Fergus J. Couch Emily Hallberg Graham G. Giles Christopher A. Haiman Loı̈c Le Marchand Mark S. Goldberg Soo‐Hwang Teo Cheng Har Yip Anne‐Lise Børresen‐Dale Wei Zheng Qiuyin Cai Robert Winqvist Katri Pylkäs Irene L. Andrulis Peter Devilee Rob A.�E.�M. Tollenaar Montserrat García‐Closas Jonine D. Figueroa Per Hall Kamila Czene Judith S. Brand Hatef Darabi Mikael Eriksson Maartje J. Hooning Linetta B. Koppert Jingmei Li Xiao‐Ou Shu Ying Zheng Angela Cox Simon S. Cross Mitul Shah Valerie Rhenius Ji‐Yeob Choi Daehee Kang

Genome-wide association studies (GWASs) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine mapping of this locus using data from 104,660 subjects 50 case-control in Breast Cancer Association Consortium (BCAC). With for 3,365 genotyped and imputed SNPs across a 1 Mb region (positions 44,394,495–45,364,167; NCBI build 37), found evidence least three independent signals: strongest signal, consisting single SNP rs10941679, was...

10.1016/j.ajhg.2016.07.017 article EN cc-by The American Journal of Human Genetics 2016-09-15

Predicting response to endocrine therapy and survival in oestrogen receptor positive breast cancer is a significant clinical challenge novel prognostic biomarkers are needed. Long-range regulators of gene expression emerging as promising therapeutic targets for human diseases, so we have explored the potential distal enhancer elements non-coding RNAs prognostication survival. HOTAIR long RNA that overexpressed, promotes metastasis predictive decreased Here, describe long-range...

10.1093/hmg/ddw177 article EN cc-by-nc Human Molecular Genetics 2016-07-04

Genome-wide association studies (GWAS) have identified markers within the WNT4 region on chromosome 1p36.12 showing consistent and strong with increasing endometriosis risk. Fine mapping using sequence imputed genotype data has revealed candidates for causal SNPs these critical regions; however, molecular pathogenesis of is currently unknown. We used gene expression collected from whole blood 862 individuals endometrial tissue 136 independent populations European descent to examine mechanism...

10.1093/hmg/ddw320 article EN Human Molecular Genetics 2016-09-20

Abstract Background Genome-wide association studies (GWAS) have identified > 200 loci associated with breast cancer risk. The majority of candidate causal variants are in non-coding regions and likely modulate risk by regulating gene expression. However, pinpointing the exact target association, identifying phenotype it mediates, is a major challenge interpretation translation GWAS. Results Here, we show that pooled CRISPR screens highly effective at GWAS genes defining phenotypes they...

10.1186/s13059-023-02898-w article EN cc-by Genome biology 2023-03-29

Breast cancer outcome, including response to therapy, risk of metastasis and survival, is difficult predict using currently available methods, highlighting the urgent need for more informative biomarkers. Androgen receptor (AR) has been implicated in breast carcinogenesis however its potential be an biomarker yet fully explored. In this study, AR protein levels were determined a cohort 73 Grade III invasive ductal adenocarcinomas.The tumour samples was by immunohistochemistry results...

10.1186/1471-2407-12-132 article EN cc-by BMC Cancer 2012-04-02
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
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
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