Cedrick Lefol
Overview
Explore the profile of Cedrick Lefol including associated specialties, affiliations and a list of published articles.
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Snapshot
Articles
17
Citations
289
Followers
0
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Recent Articles
1.
Bouras A, Lefol C, Ruano E, Grand-Masson C, Auclair-Perrossier J, Wang Q
Hum Mol Genet
. 2024 Feb;
33(10):850-859.
PMID: 38311346
Lynch syndrome (LS) is a common hereditary cancer syndrome caused by heterozygous germline pathogenic variants in DNA mismatch repair (MMR) genes. Splicing defect constitutes one of the major mechanisms for...
2.
Bouras A, Grand-Masson C, Lefol C, Ruano E, Prieur F, Wang Q
Fam Cancer
. 2024 Feb;
23(4):671-673.
PMID: 38310587
No abstract available.
3.
Bouras A, Lefol C, Ruano E, Grand-Masson C, Wang Q
Genes Chromosomes Cancer
. 2023 Aug;
63(1):e23193.
PMID: 37534630
PMS2 germline pathogenic variants are one of the major causes for Lynch syndrome and constitutional mismatch repair deficiencies. Variant identification in the 3' region of this gene is complicated by...
4.
Bouras A, Legrand C, Kourda J, Ruano E, Grand-Masson C, Lefol C, et al.
Mol Genet Genomic Med
. 2023 Jun;
11(9):e2231.
PMID: 37350751
Background: The MLH1 gene is one of the DNA mismatch repair genes (MMR), implicated in Lynch syndrome (LS), an autosomal dominant hereditary tumor susceptibility disease. The advent of next-generation sequencing...
5.
Bouras A, Naibo P, Legrand C, Marchadour F, Ruano E, Grand-Masson C, et al.
Fam Cancer
. 2022 Nov;
22(3):303-306.
PMID: 36445599
The PMS2 gene is one of the DNA mismatch repair genes (MMR) implicated in Lynch syndrome (LS). A subset of PMS2 pathogenic variants (PVs) are splice variants mostly affecting canonical...
6.
Lefol C, Sohier E, Baudet C, Naibo P, Ruano E, Grand-Masson C, et al.
Eur J Hum Genet
. 2020 Dec;
29(3):482-488.
PMID: 33279946
Patients with tumors displaying high microsatellite instability (MSI-H) but no germline MMR inactivation are suspected for Lynch-like syndrome (LLS). To explore the involvement of acquired somatic MMR alteration as a...
7.
Wang Q, Leclerc J, Bougeard G, Olschwang S, Vasseur S, Cassinari K, et al.
J Med Genet
. 2020 Jan;
57(7):487-499.
PMID: 31992580
Background: Heterozygous germline variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes....
8.
Caputo S, Leone M, Damiola F, Ehlen A, Carreira A, Gaidrat P, et al.
Oncotarget
. 2018 May;
9(25):17334-17348.
PMID: 29707112
Germline pathogenic variants in the gene are associated with a cumulative high risk of breast/ovarian cancer. Several variants result in complete loss of the exon-3 at the transcript level. The...
9.
Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al.
Breast Cancer Res
. 2015 May;
17:61.
PMID: 25925750
Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA...
10.
Kuchenbaecker K, Neuhausen S, Robson M, Barrowdale D, McGuffog L, Mulligan A, et al.
Breast Cancer Res
. 2015 Apr;
16(6):3416.
PMID: 25919761
Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there...