Publications by authors named "Chrystelle Colas"

63Publications

Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.

Eur J Hum Genet 2020 Nov 16;28(11):1624-1628. Epub 2020 Jul 16.

Department of Genetics, Hôpital Universitaire Pitié Salpêtrière (Assistance Publique-Hôpitaux de Paris), Paris VI University, Paris, France.

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http://dx.doi.org/10.1038/s41431-020-0689-6DOI Listing
November 2020

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.

Authors:
Daniel R Barnes Matti A Rookus Lesley McGuffog Goska Leslie Thea M Mooij Joe Dennis Nasim Mavaddat Julian Adlard Munaza Ahmed Kristiina Aittomäki Nadine Andrieu Irene L Andrulis Norbert Arnold Banu K Arun Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Javier Benitez Pascaline Berthet Katarzyna Białkowska Amie M Blanco Marinus J Blok Bernardo Bonanni Susanne E Boonen Åke Borg Aniko Bozsik Angela R Bradbury Paul Brennan Carole Brewer Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Lise Lotte Christensen Wendy K Chung Kathleen B M Claes Chrystelle Colas Marie-Agnès Collonge-Rame Jackie Cook Mary B Daly Rosemarie Davidson Miguel de la Hoya Robin de Putter Capucine Delnatte Peter Devilee Orland Diez Yuan Chun Ding Susan M Domchek Cecilia M Dorfling Martine Dumont Ros Eeles Bent Ejlertsen Christoph Engel D Gareth Evans Laurence Faivre Lenka Foretova Florentia Fostira Michael Friedlander Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Andrea Gehrig Anne-Marie Gerdes Paul Gesta Sophie Giraud Gord Glendon Andrew K Godwin David E Goldgar Anna González-Neira Mark H Greene Daphne Gschwantler-Kaulich Eric Hahnen Ute Hamann Helen Hanson Julia Hentschel Frans B L Hogervorst Maartje J Hooning Judit Horvath Chunling Hu Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul A James Ramunas Janavicius Esther M John Vijai Joseph Beth Y Karlan Karin Kast Marco Koudijs Torben A Kruse Ava Kwong Yael Laitman Christine Lasset Conxi Lazaro Jenny Lester Fabienne Lesueur Annelie Liljegren Jennifer T Loud Jan Lubiński Phuong L Mai Siranoush Manoukian Véronique Mari Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Austin Miller Marco Montagna Emmanuelle Mouret-Fourme Semanti Mukherjee Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Finn Cilius Nielsen Liene Nikitina-Zake Catherine Noguès Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Aoife O'Shaughnessy-Kirwan Ana Osorio Claus-Eric Ott Laura Papi Sue K Park Michael T Parsons Inge Sokilde Pedersen Bernard Peissel Ana Peixoto Paolo Peterlongo Georg Pfeiler Kelly-Anne Phillips Karolina Prajzendanc Miquel Angel Pujana Paolo Radice Juliane Ramser Susan J Ramus Johanna Rantala Gad Rennert Harvey A Risch Mark Robson Karina Rønlund Ritu Salani Hélène Schuster Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Christian F Singer Thomas P Slavin Penny Soucy Melissa C Southey Amanda B Spurdle Doris Steinemann Zoe Steinsnyder Dominique Stoppa-Lyonnet Christian Sutter Yen Yen Tan Manuel R Teixeira Soo Hwang Teo Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda E Toland Alison H Trainer Nadine Tung Klaartje van Engelen Elizabeth J van Rensburg Ana Vega Jeroen Vierstraete Gabriel Wagner Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Siddhartha Yadav Xin Yang Drakoulis Yannoukakos Dario Zimbalatti Kenneth Offit Mads Thomassen Fergus J Couch Rita K Schmutzler Jacques Simard Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

Genet Med 2020 Oct 15;22(10):1653-1666. Epub 2020 Jul 15.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41436-020-0862-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7521995PMC
October 2020

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.

Eur J Hum Genet 2020 Oct 12;28(10):1387-1393. Epub 2020 Jun 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0651-7DOI Listing
October 2020

Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Genet Med 2020 Sep 19;22(9):1533-1541. Epub 2020 May 19.

Service de Génétique et Biologie Moléculaires, Hôpital Cochin, APHP Centre Université de Paris and Inserm UMR_S1016, Institut Cochin, Université de Paris, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0828-zDOI Listing
September 2020

Direct-to-consumer misleading information on cancer risks calls for an urgent clarification of health genetic testing performed by commercial companies.

Eur J Cancer 2020 06 23;132:100-103. Epub 2020 Apr 23.

Department of Genetics, Institut Curie, Paris, France; INSERM U830, Institut Curie Paris, Paris, France; Paris-University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejca.2020.03.007DOI Listing
June 2020

Germline MBD4 mutations and predisposition to uveal melanoma.

J Natl Cancer Inst 2020 Apr 1. Epub 2020 Apr 1.

Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale Contre le Cancer, Paris, France.

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http://dx.doi.org/10.1093/jnci/djaa047DOI Listing
April 2020

[Familial disclosure by healthcare professionals in absence of genetic mutation].

Presse Med 2019 Sep 20;48(9):886-891. Epub 2019 Sep 20.

Institut Curie, Ensemble Hospitalier, service de génétique, 75005 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France; Institut Curie, Inserm U830, 75005 Paris, France.

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http://dx.doi.org/10.1016/j.lpm.2019.08.015DOI Listing
September 2019

Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.

Gastroenterology 2019 08 15;157(2):421-431. Epub 2019 Apr 15.

Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Paris, France; Equipe labellisée par la Ligue Nationale contre le Cancer, Paris, France. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2019.03.071DOI Listing
August 2019

"Decoding hereditary breast cancer" benefits and questions from multigene panel testing.

Breast 2019 Jun 8;45:29-35. Epub 2019 Jan 8.

Department of Genetics, Institut Curie, Paris, France; Paris Descartes Sorbonne-Paris-Cité University, Paris, France; INSERM U830, Institut Curie Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.breast.2019.01.002DOI Listing
June 2019

Prevalence of Pathogenic Variants of FAN1 in More Than 5000 Patients Assessed for Genetic Predisposition to Colorectal, Breast, Ovarian, or Other Cancers.

Gastroenterology 2019 05 9;156(6):1919-1920. Epub 2019 Jan 9.

Department of Tumor Biology, Institut Curie, Université de Recherche Paris Sciences et Lettres, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085193002
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http://dx.doi.org/10.1053/j.gastro.2019.01.003DOI Listing
May 2019

[Constitutional MMR deficiency: Genetic bases and clinical implications].

Bull Cancer 2019 Feb 11;106(2):162-172. Epub 2018 Dec 11.

Paris Sciences Lettres Research University, institut Curie, département de génétique, 75005 Paris, France; Sorbonne Universités, UPMC université Paris 06, Centre de recherche Saint-Antoine, Inserm, CNRS, 75012 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.bulcan.2018.10.008DOI Listing
February 2019

Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.

Gastric Cancer 2019 07 4;22(4):899-903. Epub 2018 Dec 4.

Laboratoire d'Oncogénétique, Unité fonctionnelle d'Oncogénétique, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière AP-HP, 75013, Paris, France.

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http://link.springer.com/10.1007/s10120-018-00907-7
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http://dx.doi.org/10.1007/s10120-018-00907-7DOI Listing
July 2019

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.

Int J Cancer 2019 04 13;144(8):1962-1974. Epub 2018 Nov 13.

Inserm, Paris, France.

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http://doi.wiley.com/10.1002/ijc.31921
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http://dx.doi.org/10.1002/ijc.31921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587727PMC
April 2019

[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].

Bull Cancer 2018 Oct 27;105(10):907-917. Epub 2018 Sep 27.

Institut Paoli-Calmettes, oncogénétique clinique, département d'anticipation et de suivi des cancers, 232, boulevard Sainte-Marguerite, 13009 Marseille, France; Aix-Marseille université, Inserm, IRD, SESSTIM, 13000 Marseille, France.

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http://dx.doi.org/10.1016/j.bulcan.2018.08.003DOI Listing
October 2018

Metachronous colorectal cancer risk in Lynch syndrome patients-should the endoscopic surveillance be more intensive?

Int J Colorectal Dis 2018 Jun 12;33(6):703-708. Epub 2018 Mar 12.

Department of Digestive Surgery, St Antoine Hospital (AP-HP), Sorbonne Université, 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.

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http://link.springer.com/10.1007/s00384-018-3004-z
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http://dx.doi.org/10.1007/s00384-018-3004-zDOI Listing
June 2018

Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6.

Eur J Hum Genet 2018 03 4;26(3):440-444. Epub 2018 Jan 4.

Department of Paediatric Oncology, Haematology and Clinical Immunology, University Children´s Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

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http://dx.doi.org/10.1038/s41431-017-0071-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839041PMC
March 2018

Surveillance of Duodenal Polyposis in Familial Adenomatous Polyposis: Should the Spigelman Score Be Modified?

Dis Colon Rectum 2017 Nov;60(11):1137-1146

1 Department of Digestive Surgery, Hôpital Saint-Antoine, Paris, France 2 Mater Misericordiae University Hospital, Dublin, Ireland 3 Laboratory of Angiogenetics and Oncogenetics, Hôpital Pitié-Salpétrière, Paris, France 4 Centre de Prise en Charge Multidisciplinaire des Personnes Predisposes Héréditairement au Cancer Colorectal, Hôpital Saint-Antoine, Paris, France 5 Department of Digestive Endoscopy, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1097/DCR.0000000000000903DOI Listing
November 2017

The Balance Between Cytotoxic T-cell Lymphocytes and Immune Checkpoint Expression in the Prognosis of Colon Tumors.

J Natl Cancer Inst 2018 01;110(1)

Programme "Cartes d'Identité des Tumeurs," Ligue Nationale Contre le Cancer, Paris, France; INSERM, UMRS 938 - Centre de Recherche Saint-Antoine, Equipe "Instabilité des Microsatellites et Cancers," Equipe labellisée par la Ligue Nationale contre le Cancer, Paris, France; Sorbonne Université, UPMC Univ Paris 06, Paris, France; AP-HP, Hôpital Saint-Antoine, Service d'Anatomie et Cytologie Pathologiques, Paris, France; Centre de Recherche en Cancérologie de Toulouse, UMR 1037 INSERM - Université Toulouse III, Department of Pathology, CHU, Toulouse, France; Laboratoire d'Oncopharmacologie, EA 3836, Centre Antoine Lacassagne, Nice, France; INSERM, U682, Développement et Physiopathologie de l'Intestin et du Pancréas, Strasbourg, France; AP-HP, Hôpital Saint-Antoine, Service d'Oncologie Médicale, Paris, France; AP-HP, Laboratoire d'oncogénétique et d'Angiogénétique, GH Pitié-Salpétrière, Paris, France; INSERM, Unité Mixte de Recherche, Paris Sorbonne Cité, Université Paris Descartes, Paris, France; Aix Marseille Univ, INSERM, GMGF, Marseille, France and RGDS, HP Clairval, Marseille, France; AP-HP, Service de Chirurgie Générale et Digestive, Hôpital Saint-Antoine, Paris, France; Department of Oncologic Medicine, Gustave-Roussy, Villejuif, France; Université Paris Descartes, Paris Sorbonne Cité INSERM UMR-S775, Paris, France; INSERM, Burgundy Cancer Registry, U866, Burgundy University, Dijon University Hospital, BP 87900?21079 Dijon, France; Department of Medical Oncology, Centre Georges-François Leclerc, Dijon, France; INSERM, UMR866, Burgundy University; Platform of transfer in oncology, Burgundy University, Centre Georges-François Leclerc, Dijon, France.

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http://dx.doi.org/10.1093/jnci/djx136DOI Listing
January 2018

Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study.

Int J Gynecol Cancer 2017 06;27(5):953-960

*Department of Gynaecological and Breast Cancer Surgery, Hôpital Européen Georges-Pompidou, Assistance Publique des Hopitaux de Paris (APHP); †Medical School, Paris Descartes University, Sorbonne Paris Cité; ‡Pathology and §Genetics, Hôpital Européen Georges-Pompidou; ∥Department of Tumour Biology, Curie Institute; ¶INSERM U830, University Paris Descartes, Sorbonne Paris Cité; and #Department of Obstetrics and Gynaecology, Tenon University Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris; **Department of Oncogenetics, Gustave Roussy Institute, Villejuif; and ††Institut Cochin, University Paris Descartes, Sorbonne Paris Cite, CNRS (UMR 8104); ‡‡INSERM U1016; §§University Paris Descartes, Sorbonne Paris Cite, Department of Gynaecology, Obstetrics, and Reproductive Medicine, Hôpital Cochin, Hopitaux Universitaires Paris Centre, AP-HP; ∥∥Department of Genetics, Pitié-Salpêtrière Hospital; ¶¶Genetics, Hôpital Saint-Antoine; ##Gynaecology and Obstetrics, Hôpital Tenon; and ***Department of Digestive Diseases and Oncogenetics, APHP, Cochin Hospital, Paris, France.

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http://dx.doi.org/10.1097/IGC.0000000000000985DOI Listing
June 2017

GENESIS: a French national resource to study the missing heritability of breast cancer.

BMC Cancer 2016 Jan 12;16:13. Epub 2016 Jan 12.

Inserm, U900, Paris, France.

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http://dx.doi.org/10.1186/s12885-015-2028-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711059PMC
January 2016

Somatic c.34G>T KRAS mutation: a new prescreening test for MUTYH-associated polyposis?

Cancer Genet 2015 Jul-Aug;208(7-8):390-5. Epub 2015 Apr 23.

Department of Digestive Surgery, Hôpital Saint Antoine (Assistance Publique-Hôpitaux de Paris), Paris VI University, Paris, France.

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http://dx.doi.org/10.1016/j.cancergen.2015.04.005DOI Listing
October 2015

Desmoid tumour in familial adenomatous polyposis patients: responses to treatments.

Fam Cancer 2015 Mar;14(1):31-9

Department of Digestive Surgery, Hôpital Saint-Antoine, Assistance Publique Hôpitaux de Paris, Université Pierre et Marie Curie, Paris VI, 184 rue du Faubourg Saint-Antoine, 75012, Paris, France.

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http://dx.doi.org/10.1007/s10689-014-9760-1DOI Listing
March 2015

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.

Fam Cancer 2013 Mar;12(1):27-33

Department of Digestive Surgery, Hôpital Saint Antoine (AP-HP), Paris VI University, Paris, France.

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http://dx.doi.org/10.1007/s10689-012-9568-9DOI Listing
March 2013

French experts report on MUTYH-associated polyposis (MAP).

Fam Cancer 2012 Sep;11(3):321-8

Department of Genetics, Institut Curie, 26, rue d'Ulm, 75248, Paris Cédex 5, France.

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http://dx.doi.org/10.1007/s10689-012-9511-0DOI Listing
September 2012

Lynch or not Lynch? Is that always a question?

Adv Cancer Res 2012 ;113:121-66

INSERM, UMRS 938, Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancers, Paris, France.

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http://dx.doi.org/10.1016/B978-0-12-394280-7.00004-XDOI Listing
July 2012

Screening for Lynch syndrome in colorectal cancer: are we doing enough?

Ann Surg Oncol 2012 Mar 31;19(3):809-16. Epub 2011 Aug 31.

Department of Digestive Surgery, Hôpital Saint-Antoine, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1245/s10434-011-2014-7DOI Listing
March 2012

A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

Genet Test Mol Biomarkers 2010 Oct 21;14(5):677-90. Epub 2010 Sep 21.

Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Université Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1089/gtmb.2009.0183DOI Listing
October 2010

MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.

Fam Cancer 2010 Dec;9(4):589-94

Department of Digestive Surgery, Hôpital Saint-Antoine AP-HP, University Pierre et Marie Curie Paris VI, 184 rue du Faubourg Saint-Antoine, 75571 Paris, France.

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http://dx.doi.org/10.1007/s10689-010-9367-0DOI Listing
December 2010

APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.

Ann Surg Oncol 2009 Apr 24;16(4):871-7. Epub 2009 Jan 24.

Department of Digestive Surgery, Hopital Saint-Antoine, University Paris VII Pierre & Marie Curie, Paris, France.

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http://dx.doi.org/10.1245/s10434-008-0297-0DOI Listing
April 2009

Prevalence of mutations in APC, CTNNB1, and BRAF in Tunisian patients with sporadic colorectal cancer.

Cancer Genet Cytogenet 2008 Nov;187(1):12-8

Laboratory of Human Genetics, Immunology, and Pathology, Faculty of Sciences-Tunis, University of Tunis, Campus Universitaire, El Manar I, Tunis 2092, Tunisia.

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http://dx.doi.org/10.1016/j.cancergencyto.2008.06.016DOI Listing
November 2008

First genetic analysis in Tunisian familial adenomatous polyposis probands.

Oncol Rep 2008 May;19(5):1213-8

Laboratoire de Génétique, Immunologie et Pathologies Humaines, Faculté des Sciences de Tunis, Tunis 2092, Tunisia.

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May 2008