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A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1
Philippine Eloy
,
Catherine Dehainault
,
Meriem Sefta
,
Isabelle Aerts
,
François Doz
et al.
Journal articles
hal-01286009v1
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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Gaëlle Bougeard
,
Mariette Renaux-Petel
,
Jean-Michel Flaman
,
Camille Charbonnier
,
Pierre Fermey
et al.
Journal articles
hal-02356329v1
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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
et al.
Journal articles
hal-01662200v1
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Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.
David G Cox
,
Jacques Simard
,
Daniel Sinnett
,
Yosr Hamdi
,
Penny Soucy
et al.
Journal articles
hal-00790211v1
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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression
Jing Liu
,
Daniela Ottaviani
,
Meriem Sefta
,
Céline Desbrousses
,
Elodie Chapeaublanc
et al.
Journal articles
hal-03374490v1
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Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk
Stephanie Baert-Desurmont
,
Francoise Charbonnier
,
Estelle Houivet
,
Lorena Ippolito
,
Jacques Mauillon
et al.
Journal articles
hal-01659109v1
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Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers
Lisa Golmard
,
Laurent Castéra
,
Sophie Krieger
,
Virginie Moncoutier
,
Khadija Abidallah
et al.
Journal articles
hal-02194429v1
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Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
Sandrine Caputo
,
Lisa Golmard
,
Mélanie Léone
,
Francesca Damiola
,
Marine Guillaud-Bataille
et al.
Journal articles
hal-03375857v1
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Breast Cancer Risk Associated with Estrogen Exposure and Truncating Mutation Location in BRCA1/2 Carriers
Julie Lecarpentier
,
Catherine Nogues
,
Emmanuelle Mouret-Fourme
,
Bruno Buecher
,
Marion Gauthier-Villars
et al.
Journal articles
inserm-01990932v1
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Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1/2 carrier cohort (GENEPSO).
Julie Lecarpentier
,
Catherine Noguès
,
Emmanuelle Mouret-Fourme
,
Marion Gauthier-Villars
,
Christine Lasset
et al.
Journal articles
inserm-00724092v1
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PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.
Flora Alarcon
,
Catherine Bourgain
,
Marion Gauthier-Villars
,
Violaine Planté-Bordeneuve
,
Dominique Stoppa-Lyonnet
et al.
Journal articles
inserm-00358140v1
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Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma
Fanélie Jouenne
,
Isaure Chauvot de Beauchêne
,
Emeline Bollaert
,
Marie-Francoise Avril
,
Olivier Caron
et al.
Journal articles
hal-01580787v1
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A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers
Yue Jiao
,
Fabienne Lesueur
,
Chloé-Agathe Azencott
,
Maïté Laurent
,
Noura Mebirouk
et al.
Journal articles
inserm-03313811v1
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Mosaicism and prenatal diagnosis options: insights from retinoblastoma
Catherine Dehainault
,
Lisa Golmard
,
Gaël Millot
,
Agathe Charpin
,
Anthony Laugé
et al.
Journal articles
pasteur-03105162v1
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Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2
Sophie Blein
,
Laure Barjhoux
,
Francesca Damiola
,
Marie-Gabrielle Dondon
,
Séverine Eon-Marchais
et al.
Journal articles
inserm-01991386v1
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.
Ana-Teresa Maia
,
Antonis Antoniou
,
Martin O'Reilly
,
Shamith Samarajiwa
,
Mark Dunning
et al.
Journal articles
inserm-00698626v1
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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
Maximiliano Ribeiro Guerra
,
Juliette Coignard
,
Séverine Eon-Marchais
,
Marie-Gabrielle Dondon
,
Dorothée Le Gal
et al.
Journal articles
hal-03345365v1
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The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Inge Lakeman
,
Alexandra van den Broek
,
Juliën Vos
,
Daniel Barnes
,
Julian Adlard
et al.
Journal articles
hal-03652349v1
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EMMA, a cost and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
Virginie Caux-Moncoutier
,
Laurent Castera
,
Carole Tirapo
,
Dorothée Michaux
,
Marie-Alice Remon
et al.
Journal articles
hal-00613913v1
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GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers
Fabienne Lesueur
,
Noura Mebirouk
,
Yue Jiao
,
Laure Barjhoux
,
Muriel Belotti
et al.
Journal articles
hal-01926758v1
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Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study
Lieske Schrijver
,
Antonis Antoniou
,
Håkan Olsson
,
Thea Mooij
,
Marie-José Roos-Blom
et al.
Journal articles
hal-03664541v1
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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
Fabienne Lesueur
,
Mahaut de Lichy
,
Michel Barrois
,
Guillermo Durand
,
Johny Bombled
et al.
Journal articles
hal-02196212v1
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Corine Bertolotto-Ballotti
,
Fabienne Lesueur
,
Sandy Giuliano
,
Thomas Strub
,
Mahaut de Lichy
et al.
Journal articles
istex
hal-00719536v1
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