Publications by authors named "Marie-Agnes Collonge-Rame"

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The t(X;20)(q13;q13) translocation is a good prognostic factor in myeloid neoplasms: A report of 25 cases from the Groupe Francophone de Cytogénétique Hématologique.
Florence Nguyen-Khac, Marc Muller, Elise Chapiro, Nassera Abermil, Marie-Agnes Collonge-Rame

Am J Hematol· July 2024

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Cytogenetics in the management of hematologic neoplasms with germline predisposition: guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Nathalie Gachard, Marina Lafage-Pochitaloff, Julie Quessada, Nathalie Auger, Marie-Agnès Collonge-Rame

Curr Res Transl Med· December 2023

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Cytogenetics in the management of bone marrow failure syndromes: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
Wendy Cuccuini, Marie-Agnes Collonge-Rame, Nathalie Auger, Nathalie Douet-Guilbert, Lucie Coster

Curr Res Transl Med· December 2023

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Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Laurence Faivre, Jean-Charles Crépin, Manon Réda, Sophie Nambot, Virginie Carmignac, Marie-Agnès Collonge-Rame

Clin Genet· November 2023

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The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Martin Chevarin, Diana Alcantara, Juliette Albuisson, Marie-Agnès Collonge-Rame, Céline Populaire

Oncotarget· February 2023

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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Yue Jiao, Thérèse Truong, Séverine Eon-Marchais, Noura Mebirouk, Sandrine M Caputo, Marie-Agnès Collonge-Rame

Eur J Cancer· January 2023

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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Christopher Hakkaart, John F Pearson, Louise Marquart, Joe Dennis, George A R Wiggins, Marie-Agnès Collonge-Rame

Commun Biol· October 2022

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Efficacy of pembrolizumab in a patient with xeroderma pigmentosum variant and advanced cutaneous squamous-cell carcinoma.
Aymeric Hennemann, Marie Agnès Collonge Rame, Eve Puzenat, Cécile Ged, Sylvain Harbon

Acta Oncol· September 2022

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The CADM1 tumor suppressor gene is a major candidate gene in MDS with deletion of the long arm of chromosome 11.
Marina Lafage-Pochitaloff, Bastien Gerby, Véronique Baccini, Laetitia Largeaud, Vincent Fregona, Marie-Agnès Collonge-Rame

Blood Adv· January 2022

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Plasmacytoid dendritic cells proliferation associated with acute myeloid leukemia: phenotype profile and mutation landscape.
Loria Zalmaï, Pierre-Julien Viailly, Sabeha Biichle, Meyling Cheok, Lou Soret, Marie-Agnès Collonge-Rame

Haematologica· December 2021

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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Sandrine M Caputo, Lisa Golmard, Mélanie Léone, Francesca Damiola, Marine Guillaud-Bataille, Marie-Agnès Collonge-Rame

Am J Hum Genet· October 2021

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Lymphoblastic T Cells and Mature NK Cells With the Same TCRγ Rearrangement: A Common Origin?
Anne Roggy, Sabeha Biichle, Christophe Ferrand, Florian Renosi, Fabrice Larosa

Hemasphere· August 2021

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TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, Marie-Agnès Collonge-Rame

Cancers (Basel)· July 2021

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Clinical and biological features of B-cell neoplasms with CDK6 translocations: an association with a subgroup of splenic marginal zone lymphomas displaying frequent CD5 expression, prolymphocytic cells, and TP53 abnormalities.
Baptiste Gailllard, Pascale Cornillet-Lefebvre, Quoc-Hung Le, Karim Maloum, Mélanie Pannetier, Marie Agnès Collonge-Rame

Br J Haematol· April 2021

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Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Daniel R Barnes, Matti A Rookus, Lesley McGuffog, Goska Leslie, Thea M Mooij, Marie-Agnès Collonge-Rame

Genet Med· October 2020

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Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association.
Eric Dahlen, Sinziana I Sarghi, Florian Renosi, Christophe Ferrand, Marie-Agnes Collonge-Rame

Cytogenet Genome Res· April 2020

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Genetic characterization of B-cell prolymphocytic leukemia: a prognostic model involving MYC and TP53.
Elise Chapiro, Elodie Pramil, M'boyba Diop, Damien Roos-Weil, Clémentine Dillard, Marie-Agnès Collonge-Rame

Blood· November 2019

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Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.
Frank Qian, Matti A Rookus, Goska Leslie, Harvey A Risch, Mark H Greene, Marie-Agnès Collonge-Rame

Br J Cancer· July 2019

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Endoscopic Phenotype of Monoallelic Carriers of MUTYH Gene Mutations in the Family of Polyposis Patients: A Prospective Study.
Noha El Hachem, Caroline Abadie, Michel Longy, Chrystelle Colas, Sandra Fert-Ferrer, MarieAgnes Collonge-Rame

Dis Colon Rectum· April 2019

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GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in and Pathogenic Variant Carriers.
Fabienne Lesueur, Noura Mebirouk, Yue Jiao, Laure Barjhoux, Muriel Belotti, Marie-Agnès Collonge-Rame

Front Oncol· October 2018

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First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report.
Guillaume Meynard, Laura Mansi, Pierre Lebahar, Cristian Villanueva, Elodie Klajer, Marie-Agnès Collonge-Rame

Oncol Rep· March 2017

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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Nicolas Gruchy, Eleonore Blondeel, Nathalie Le Meur, Géraldine Joly-Hélas, Pascal Chambon, Marie-Agnès Collonge-Rame

Prenat Diagn· June 2016

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Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Stéphanie Baert-Desurmont, Françoise Charbonnier, Estelle Houivet, Lorena Ippolito, Jacques Mauillon, Marie-Agnès Collonge-Rame

Eur J Hum Genet· January 2016

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GENESIS: a French national resource to study the missing heritability of breast cancer.
Olga M Sinilnikova, Marie-Gabrielle Dondon, Séverine Eon-Marchais, Francesca Damiola, Laure Barjhoux, Marie-Agnès Collonge-Rame

BMC Cancer· January 2016

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Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Timothy R Rebbeck, Nandita Mitra, Fei Wan, Olga M Sinilnikova, Sue Healey, Marie-Agnès Collonge-Rame

JAMA· April 2015

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