Author

A. Chansavang

3 papers indexed here

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Oct 2026

Clinically actionable genetic findings by exome sequencing performed for therapeutic purposes in children with very-high risk cancer included the MAPPYACTS study.

INTRODUCTION Next-generation sequencing performed for therapeutic decision-making in pediatric cancers provides an opportunity to identify germline variants associated with hereditary cancer predisposition and other actionable inherited conditions. METHODS Germline whole-exome sequencing (WES) was performed within th...

Tiphaine Adam-de-Beaumais, Yahia Adnani, L. Guerrini-Rousseau et al. · European Journal of Cancer · 0 citations

Open access Aug 2026

Abnormal Enamel Mineralization and Hypercalcemia due to GNA11 Variants.

Abnormal enamel mineralization has been reported in genetic conditions associated with hypocalcemia but never with hypercalcemia. In the present study, we report 10 patients from 2 unrelated families in whom hypomineralized enamel co-segregated with hypercalcemia due to a complete deletion or frameshifting premature tr...

N. Obtel, A. Le Cabec, A. Lakhel et al. · Journal of dentistry researc... · 0 citations

Aug 2026

Low-frequency CDKN1B variants in pituitary testing: a diagnostic pitfall.

Findings supported a leukocyte-restricted origin of the CDKN1B variants and suggested CHIP as the most likely explanation, but low-frequency CDKN1B variants detected during blood-based germline testing should not be interpreted as constitutional mosaicism or inherited endocrine tumor predisposition.

A. Chansavang, C. Friedrich, Emmanuelle Kuhn et al. · European Journal of Endocrin... · 0 citations