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Liliane Demange

Researcher at Curie Institute

Publications -  11
Citations -  1401

Liliane Demange is an academic researcher from Curie Institute. The author has contributed to research in topics: Germline mutation & Point mutation. The author has an hindex of 10, co-authored 11 publications receiving 1300 citations.

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Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

TL;DR: There appeared to be an interdependent association between mutations upstream and within the PTPase core motif, the core motif containing the majority of missense mutations, and the involvement of all major organ systems (central nervous system, thyroid, breast, skin and gastrointestinal tract).
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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Corine Bertolotto, +98 more
- 01 Dec 2011 - 
TL;DR: A germline missense substitution in MITF (Mi-E318K) is identified that occurred at a significantly higher frequency in genetically enriched patients affected with melanoma, RCC or both cancers, when compared with controls and provides insights into the link between SUMOylation, transcription and cancer.
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Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

TL;DR: BRCA1 large rearrangements accounted for 3.3% (4/120) of breast-ovarian cancer cases and 9.5% of the BRCA 1 gene mutation spectrum, suggesting that their screening is an important step that should be now systematically included in genetic testing surveys.
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A phase III randomized trial comparing adjuvant concomitant chemoradiotherapy versus standard adjuvant chemotherapy followed by radiotherapy in operable node-positive breast cancer: Final results

TL;DR: Concomitant radiotherapy with adjuvant fluorouracil, mitoxantrone, and cyclophosphamide has significantly better locoregional control in node-positive breast cancer after conservative surgery and 50% shorter treatment, albeit with slightly more acute toxicity.
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The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Olga M. Sinilnikova, +73 more
TL;DR: There was no evidence that TP53 Arg72Pro or MDM2 309T>G, either singly or in combination, influence breast cancer risk in BRCA1 or BRCa2 mutation carriers.