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» Authors » Cedrick Lefol

Cedrick Lefol

Explore the profile of Cedrick Lefol including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 17
Citations 289
Followers 0
Related Specialties
Genetics
Oncology
Molecular Biology
Top 10 Co-Authors
Etienne Rouleau
Qing Wang
Rosette Lidereau
Chloe Grand-Masson
Eric Ruano
Dominique Stoppa-Lyonnet
Ahmed Bouras
Florence Coulet
Sylvie Mazoyer
Florent Soubrier
Published In
Hum Mutat
Fam Cancer
Genes Chromosomes Cancer
Breast Cancer Res
BMC Med Genet
Affiliations
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Recent Articles
11.
Dismantling papillary renal cell carcinoma classification: The heterogeneity of genetic profiles suggests several independent diseases
Marsaud A, Dadone B, Ambrosetti D, Baudoin C, Chamorey E, Rouleau E, et al.
Genes Chromosomes Cancer . 2015 Mar; 54(6):369-82. PMID: 25820192
Papillary renal cell carcinoma (pRCC) is the second most frequent renal cell carcinoma (RCC) after clear cell RCC. In contrast to clear cell RCC, there is no consensual protocol using...
12.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
Houdayer C, Caux-Moncoutier V, Krieger S, Barrois M, Bonnet F, Bourdon V, et al.
Hum Mutat . 2012 Apr; 33(8):1228-38. PMID: 22505045
Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation...
13.
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2
Cheeseman K, Rouleau E, Vannier A, Thomas A, Briaux A, Lefol C, et al.
Hum Mutat . 2012 Apr; 33(6):998-1009. PMID: 22473970
The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, negative for point mutations, can...
14.
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition
Muller D, Rouleau E, Schultz I, Caputo S, Lefol C, Bieche I, et al.
BMC Med Genet . 2011 Sep; 12:121. PMID: 21939546
Background: Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report,...
15.
A missense variant within BRCA1 exon 23 causing exon skipping
Rouleau E, Lefol C, Moncoutier V, Castera L, Houdayer C, Caputo S, et al.
Cancer Genet Cytogenet . 2010 Sep; 202(2):144-6. PMID: 20875879
No abstract available.
16.
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
Coulet F, Pires F, Rouleau E, Lefol C, Martin S, Colas C, et al.
Genet Test Mol Biomarkers . 2010 Sep; 14(5):677-90. PMID: 20858050
High-resolution melting (HRM) of DNA is a versatile method for mutation scanning that monitors the fluorescence of double-strand DNA with saturating dye. Performing HRM on a real-time thermocycler enables semiquantitative...
17.
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome
Rouleau E, Lefol C, Bourdon V, Coulet F, Noguchi T, Soubrier F, et al.
Hum Mutat . 2009 Feb; 30(6):867-75. PMID: 19224586
Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements....