T. Frébourg

发表

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li–Fraumeni-like families

F. Setién, M. Urioste, J. Benítez, 2015, Nature Communications.

Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up.

A. B. Hassan, S. Sleijfer, S. Bonvalot, 2021, Annals of oncology : official journal of the European Society for Medical Oncology.

A simple p 53 functional assay for screening cell lines , blood , and tumors ( tumor-suppressor gene / Li-Fraumeni syndrome / transcription factor / mutation detection / ADE 2 gene )

Erwin G. Van Meir, M. Tada, J. Benhattar, 2022 .

High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.

P. Michel, C. Martin, F. Charbonnier, 2000, Carcinogenesis.

No eVect of the á1-antichymotrypsin A allele in Alzheimer’s disease

Y. Agid, F. Pasquier, D. Campion, 1998 .

Bone sarcomas: ESMO-EURACAN-GENTURIS-ERNPaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up.

S. Sleijfer, S. Bonvalot, O. Mir, 2021, Annals of oncology : official journal of the European Society for Medical Oncology.

The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome

S. Vasseur, E. Bouvignies, J. Tinat, 2008, Familial Cancer.

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

C. Bonaïti‐pellié, D. Stoppa-Lyonnet, A. Chompret, 2008, Journal of Medical Genetics.

Allelic imbalance of the TGFβR1 is not a major contributor to the genetic predisposition to colorectal cancer

A. Cailleux, J. Tinat, S. Baert-Desurmont, 2011, British Journal of Cancer.

A simple p53 functional assay for screening cell lines, blood, and tumors.

P. Chappuis, J. Benhattar, A. Sappino, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

M Vekemans, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Gastrointestinal stromal tumours: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up.

S. Sleijfer, S. Bonvalot, O. Mir, 2021, Annals of oncology : official journal of the European Society for Medical Oncology.

BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing

L. Aaltonen, S. Thibodeau, R. Hofstra, 2004, Journal of Medical Genetics.

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

C. Bonaïti‐pellié, C. Bonaiti-Pellié, D. Stoppa-Lyonnet, 2005, Journal of Medical Genetics.

Non‐Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene

G. Capellá, E. Musulen, M. Pineda, 2008, Genes, chromosomes & cancer.

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

D. Khayat, R. Lidereau, M. Picot, 2013, Breast Cancer Research and Treatment.

Selective detection of inactivating mutations of the tumor suppressor gene p53 in bladder tumors.

Cosette Martin, C. Martin, P. Grise, 1999, The Journal of urology.

Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer.

T. Frebourg, J. Limacher, Cosette Martin, 1996, Cancer research.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

O. Delattre, D. Stoppa-Lyonnet, J. Limacher, 2001, Journal of medical genetics.

Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer

T. Frebourg, J. Sabourin, P. Michel, 2010, British Journal of Cancer.

Frequent mutation in North African patients with MUTYH‐associated polyposis

F. Coulet, F. Soubrier, S. Baert-Desurmont, 2011, Clinical genetics.