C. Corsini

发表

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma

C. Toulas, E. Uro-Coste, R. Guimbaud, 2018, Familial Cancer.

Osteosarcoma without prior retinoblastoma related to RB1 low‐penetrance germline pathogenic variants: A novel type of RB1‐related hereditary predisposition syndrome?

C. Houdayer, P. Pujol, C. Delnatte, 2019, Molecular genetics & genomic medicine.

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.

W. Foulkes, D. Lambrechts, O. Cussenot, 2021, European journal of cancer.

No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families

M. Ychou, M. Picot, P. Taourel, 2021, Genes.

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

W. Chung, J. Benítez, R. Eeles, 2020, Breast Cancer Research.

Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation

C. Turnbull, J. Daurès, P. Pujol, 2022, Cancers.

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

E. Baudin, J. Bertherat, L. Faivre, 2019, Journal of Medical Genetics.

Ovarian Clear Cell Carcinoma in Cowden Syndrome.

G. MacGrogan, P. Pujol, J. Tinat, 2019, Journal of the National Comprehensive Cancer Network : JNCCN.

Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives

M. Picot, P. Pujol, D. Geneviève, 2018, Molecular genetics & genomic medicine.

Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.

J. Lemaître, F. Pellestor, F. Bernex, 2019, Stem cell research.

Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome

J. Solassol, P. Pujol, J. Chiésa, 2019, Human mutation.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

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

P. Laurent-Puig, B. Buecher, R. Guimbaud, 2020, Genetics in Medicine.

National recommendations of the French Genetics and Cancer Group - Unicancer on the modalities of multi-genes panel analyses in hereditary predispositions to tumors of the digestive tract.

B. Buecher, C. Lasset, P. Berthet, 2020, European journal of medical genetics.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2

T. Meitinger, T. Strom, D. Wieczorek, 2016, Human mutation.

Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome

D. Stoppa-Lyonnet, D. Orbach, M. Miettinen, 2021, Journal of Medical Genetics.

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

R. Eeles, J. Hopper, D. Easton, 2021, American journal of obstetrics and gynecology.

A Truncated NRIP1 Mutant Amplifies Microsatellite Instability of Colorectal Cancer by Regulating MSH2/MSH6 Expression, and Is a Prognostic Marker of Stage III Tumors

J. Duffour, P. Roepman, A. Duval, 2021, Cancers.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling

G. Lefort, E. Decker, J. Puechberty, 2013, European Journal of Human Genetics.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

S. Richard, O. Cussenot, A. Cambon-Thomsen, 2018, European Journal of Human Genetics.

Psychosocial and clinical factors of probands impacting intrafamilial disclosure and uptake of genetic testing among families with BRCA1/2 or MMR gene mutations

M. Picot, J. Solassol, P. Pujol, 2019, Psycho-oncology.

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations

G. Lefort, P. Callier, J. Puechberty, 2019, Molecular genetics & genomic medicine.

Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

S. Richard, O. Cussenot, A. Cambon-Thomsen, 2018, European Journal of Human Genetics.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

Germline mutation p.N363K in POLE is associated with an increased risk of colorectal cancer and giant cell glioblastoma

C. Toulas, E. Uro-Coste, R. Guimbaud, 2018, Familial Cancer.

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

J. Saurin, J. Limacher, V. Boige, 2022, Digestive Diseases and Sciences.

Early onset breast cancer: differences in risk factors, tumor phenotype, and genotype between North African and South European women

D. Khayat, M. Picot, P. Pujol, 2017, Breast Cancer Research and Treatment.

MSH3: a confirmed predisposing gene for adenomatous polyposis

Y. Allory, S. Vacher, I. Bièche, 2023, Journal of Medical Genetics.

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

P. Pujol, C. Lasset, P. Berthet, 2018, Bulletin du cancer.

Is BRCA2 involved in early onset colorectal cancer risk?

Y. Bignon, N. Barnich, N. Uhrhammer, 2019, Clinical genetics.

Human Mutation

J. Solassol, P. Pujol, J. Chiésa, 2019 .

Ovarian Clear Cell Carcinoma in Cowden Syndrome.

G. MacGrogan, P. Pujol, J. Tinat, 2019, The Journal of the National Comprehensive Cancer Network.