Rare duplication of the CDC73 gene and atypical hyperparathyroidism‐jaw tumor syndrome: A case report and review of the literature

Autor: Guilhaume Garrigues, Marie Batisse‐Lignier, Nancy Uhrhammer, Maud Privat, Flora Ponelle‐Chachuat, Antony Kelly, Mathilde Gay‐Bellile, Sandrine Viala, Yannick Bidet, Yves‐Jean Bignon, Mathias Cavaillé

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)

Abstract Background Hyperparathyroidism jaw‐tumor syndrome (HPT‐JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence

Externí odkaz: https://doaj.org/article/09cbe3ae2e7745bf89bfc542932ed0cd

Physiological TLR4 regulation in human fetal membranes as an explicative mechanism of a pathological preterm case

Autor: Corinne Belville, Flora Ponelle-Chachuat, Marion Rouzaire, Christelle Gross, Bruno Pereira, Denis Gallot, Vincent Sapin, Loïc Blanchon

Publikováno v: eLife, Vol 11 (2022)

The integrity of human fetal membranes is crucial for harmonious fetal development throughout pregnancy. Their premature rupture is often the consequence of a physiological phenomenon that has been exacerbated. Beyond all the implied biological proce

Externí odkaz: https://doaj.org/article/02430637958c449fbf2e30b526ab05b6

Analysis of 11 candidate genes in 849 adult patients with suspected hereditary cancer predisposition

Autor: Maud Privat, Mathis Lepage, Yves-Jean Bignon, Ioana Molnar, Sandrine Viala, Flora Ponelle-Chachuat, Mathias Cavaillé, Mathilde Gay-Bellile, Nancy Uhrhammer, Yannick Bidet

Publikováno v: Genes, Chromosomes & Cancer
Genes, Chromosomes and Cancer
Genes, Chromosomes and Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩
Genes, Chromosomes & Cancer, Wiley, 2020, ⟨10.1002/gcc.22911⟩

Hereditary predisposition to cancer concerns between 5 and 10% of cancers. The main genes involved in the most frequent syndromes (hereditary breast and ovarian cancer syndrome, hereditary non-polyposis colorectal cancer syndrome) were identified in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a2c49dc5faa46c5e9a2a904aec7ef6c
http://europepmc.org/articles/PMC7756731

Recurrence biomarkers of triple negative breast cancer treated with neoadjuvant chemotherapy and anti-EGFR antibodies

Autor: Michael F. Berger, Nina Radosevic-Robin, Yingjie Zhu, Emiliano Cocco, Lorenzo Ferrando, Maud Privat, Maurizio Scaltriti, Catherine Abrial, Helen Won, Jorge S. Reis-Filho, Flora Ponelle-Chachuat, Jean-Marc Nabholtz, Frédérique Penault-Llorca, Pier Selenica

Publikováno v: npj Breast Cancer
npj Breast Cancer, Nature, 2021, 7 (1), ⟨10.1038/s41523-021-00334-5⟩
NPJ Breast Cancer
npj Breast Cancer, Vol 7, Iss 1, Pp 1-10 (2021)

To find metastatic recurrence biomarkers of triple-negative breast cancer (TNBC) treated by neoadjuvant chemotherapy and anti-EGFR antibodies (NAT), we evaluated tumor genomic, transcriptomic, and immune features, using MSK-IMPACT assay, gene arrays,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ae69f1847b477b713c6416aa25ccc68
https://doi.org/10.1038/s41523-021-00334-5

Author response for 'Feedback of extended panel sequencing in 1,530 patients referred for suspicion of hereditary predisposition to adult cancers'

Autor: null Mathias Cavaillé, null Nancy Uhrhammer, null Maud Privat, null Flora Ponelle‐Chachuat, null Mathilde Gay‐Bellile, null Mathis Lepage, null Sandrine Viala, null Yannick Bidet, null Yves‐Jean Bignon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::338f3d64ff911fc657c6dddca65cb7a0
https://doi.org/10.1111/cge.13864/v2/response1