Stoppa-Lyonnet D - Search Results

1

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System.

Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léoné M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A. Tubeuf H, et al. Cancer Res. 2020 Sep 1;80(17):3593-3605. doi: 10.1158/0008-5472.CAN-20-0895. Epub 2020 Jul 8. Cancer Res. 2020. PMID: 32641407 Free PMC article.

2

Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer.

Eisinger F, Stoppa-Lyonnet D, Longy M, Kerangueven F, Noguchi T, Bailly C, Vincent-Salomon A, Jacquemier J, Birnbaum D, Sobol H. Eisinger F, et al. Cancer Res. 1996 Feb 1;56(3):471-4. Cancer Res. 1996. PMID: 8564955

3

Truncation at conserved terminal regions of BRCA1 protein is associated with highly proliferating hereditary breast cancers.

Sobol H, Stoppa-Lyonnet D, Bressac-de-Paillerets B, Peyrat JP, Kerangueven F, Janin N, Noguchi T, Eisinger F, Guinebretiere JM, Jacquemier J, Birnbaum D. Sobol H, et al. Cancer Res. 1996 Jul 15;56(14):3216-9. Cancer Res. 1996. PMID: 8764110

4

Mutations at BRCA1: the medullary breast carcinoma revisited.

Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, Longy M, Guinebretière JM, Sauvan R, Noguchi T, Birnbaum D, Sobol H. Eisinger F, et al. Cancer Res. 1998 Apr 15;58(8):1588-92. Cancer Res. 1998. PMID: 9563465

5

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions.

Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pagès S, Lynch HT, Lenoir GM, Mazoyer S. Puget N, et al. Cancer Res. 1999 Jan 15;59(2):455-61. Cancer Res. 1999. PMID: 9927062

6

Germline brca2 sequence variants in patients with ocular melanoma.

Sinilnikova OM, Egan KM, Quinn JL, Boutrand L, Lenoir GM, Stoppa-Lyonnet D, Desjardins L, Levy C, Goldgar D, Gragoudas ES. Sinilnikova OM, et al. Int J Cancer. 1999 Jul 30;82(3):325-8. doi: 10.1002/(sici)1097-0215(19990730)82:3<325::aid-ijc3>3.0.co;2-g. Int J Cancer. 1999. PMID: 10399947 Clinical Trial.

7

Screening of male breast cancer and of breast-ovarian cancer families for BRCA2 mutations using large bifluorescent amplicons.

Pages S, Caux V, Stoppa-Lyonnet D, Tosi M. Pages S, et al. Br J Cancer. 2001 Feb;84(4):482-8. doi: 10.1054/bjoc.2000.1627. Br J Cancer. 2001. PMID: 11207042 Free PMC article.

8

Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements.

Gad S, Aurias A, Puget N, Mairal A, Schurra C, Montagna M, Pages S, Caux V, Mazoyer S, Bensimon A, Stoppa-Lyonnet D. Gad S, et al. Genes Chromosomes Cancer. 2001 May;31(1):75-84. doi: 10.1002/gcc.1120. Genes Chromosomes Cancer. 2001. PMID: 11284038

9

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments.

Casilli F, Di Rocco ZC, Gad S, Tournier I, Stoppa-Lyonnet D, Frebourg T, Tosi M. Casilli F, et al. Hum Mutat. 2002 Sep;20(3):218-26. doi: 10.1002/humu.10108. Hum Mutat. 2002. PMID: 12203994

10

Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

Gad S, Caux-Moncoutier V, Pagès-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frénay M, Gilbert B, Maugard C, Bignon YJ, Chevrier A, Rossi A, Fricker JP, Nguyen TD, Demange L, Aurias A, Bensimon A, Stoppa-Lyonnet D. Gad S, et al. Oncogene. 2002 Oct 3;21(44):6841-7. doi: 10.1038/sj.onc.1205685. Oncogene. 2002. PMID: 12360411

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