Olga ANCZUKOW

Research Project: Characterizing the role of alternative splicing factors in mammary epithelial cell transformation

Achievements: Screened a collection of splicing factors for their ability to transform mammary epithelial cells by using 3-D cell culture and animal models that mimic the breast microenvironnement. Characterized molecular and cellular events, including alternative splicing regulation and signalling pathway activations, involved in transformation mediated by splicing factors by using gene candidate and genome wide approaches. Future work will be focused on the development of alternative cancer therapies based on modulating the expression or activity of oncogenic splicing factors and their targets.

Anczuków O, Rosenberg AZ, Akerman M, Das S, Zhan L, Karni R, Muthuswamy SK, Krainer AR. (2012). The
splicing factor SRSF1 regulates apoptosis and proliferation to promote mammary epithelial cell transformation. Nat
Struct Mol Biol,19(2):220-8.

Das S, Anczuków O, Akerman M, Krainer AR. (2012) Oncogenic splicing factor SRSF1 is a critical transcriptional
target of MYC. Cell Reports, 1:110–117

Research Project: Dissecting mRNA decay mechanisms in breast cancer

Achievements: Characterized the stability of transcript containing mutations in breast cancer predisposing genes. Improved outcome prediction and disease classification based on the position of mutations in the BRCA1 and CHECK2 genes.

Research Project: Assessing the molecular consequences of mutations in breast cancer predisposing genes

Achievements: Characterized the molecular consequences on RNA and protein stability of a panel of germline mutations in breast cancer predisposing genes BRCA1 and CHECK2. Characterized the consequences on splicing of a series of 110 unclassified mutations in the BRCA1 gene. Contributed to improve molecular diagnostic and classification of hereditary breast cancers.

Anczuków O, Ware MD, Buisson M, Zetoune AB, Stoppa-Lyonnet D, Sinilnikova OM, Mazoyer S. Does the
nonsense-mediated mRNA decay mechanism really prevent the synthesis of truncated BRCA1, CHK2 and p53
proteins? Hum Mutat 2008, 29:65-73.

Anczuków O, Buisson M, Salles MJ, Triboulet S, Longy M, Lidereau R, Sinilnikova OM, Mazoyer S (2008).
Unclassified Variants Identified in BRCA1 Exon 11: Consequences on Splicing. Genes, Chromosomes and Cancer,
47:418-26.

Buisson M, Anczuków O, Zetoune AB, Ware MD, Mazoyer S. The 185delAG mutation in the BRCA1 gene triggers
translation reinitiation of a downstream AUG codon. Hum Mutat 2006, 27:1024-1029.

Zetoune AB, Fontaniere S, Magnin D, Anczuków O, Buisson M, Zhang CZ, Mazoyer S (2008). Comparison of
nonsense-mediated mRNA decay efficiency in various murine tissues. BMC Genet, 9:83

Research Project: Characterizing acetyl-coA carboxylase mutations in breast cancer

Achievements: Characterized the gene structure of a putative breast cancer predisposing gene involved in fatty acid synthesis. Participated in the screening of the acetyl-coA carboxylase gene for mutations in a cohort of breast cancer patients.

Sinilnikova OM, Ginolhac SM, Magnard C, Leone M, Anczuków O, Hughes D, Moreau K, Thompson D, Coutanson
C, Hall J, Romestaing P, Gerard JP, Bonadona V, Lasset C, Goldgar DE, Joulin V, Venezia ND, Lenoir GM. Acetyl-
CoA carboxylase alpha gene and breast cancer susceptibility. Carcinogenesis 2004, 25:2417-2424.