Gain-of-function Prolactin Receptor Variants Are Not Associated With Breast Cancer and Multiple Fibroadenoma Risk
| Autor: | Rémi Pierre, Isabelle Tejedor, Aurélie Chiche, Zeina Chakhtoura, Carine Courtillot, Florence Boutillon, P. Camparo, Fabienne Rakotozafy, Vincent Goffin, Natascha Pigat, Jacques-Emmanuel Guidotti, Marie-Laure Tanguy, Sophie Vacher, Fatima Laki, Anne Bissery, Ivan Bièche, Marc Foretz, Marie Bernadet, Jean Tichet, Virginie Grouthier, Philippe Touraine, Sophie Bernichtein, Marcio Do Cruzeiro, Brigitte Sigal-Zafrani, Ibtissem Cherifi |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
0301 basic medicine Genetically modified mouse medicine.medical_specialty Adolescent Receptors Prolactin Endocrinology Diabetes and Metabolism Clinical Biochemistry Breast Neoplasms Mice Transgenic Context (language use) Biochemistry Germline Cohort Studies Mice Young Adult 03 medical and health sciences 0302 clinical medicine Endocrinology Breast cancer Breast Fibroadenoma Internal medicine medicine Animals Humans business.industry Prolactin receptor Biochemistry (medical) Middle Aged medicine.disease Fibroadenoma Mice Inbred C57BL Disease Models Animal 030104 developmental biology 030220 oncology & carcinogenesis Cohort Female business |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 101:4449-4460 |
| ISSN: | 1945-7197 0021-972X |
| Popis: | In a cohort of 95 women with multiple breast fibroadenomas (MFAs), we recently identified patients harboring germline heterozygous variants of the prolactin receptor (PRLR) exhibiting constitutive activity (PRLRThis study sought to better delineate the potential role of PRLR gain-of-function variants in benign and malignant mammary tumorigenesis.This was an observational study and transgenic mouse model analysis.The study took place at the Department of Endocrinology, Reproductive Disorders and Rare Gynecologic Diseases, Pitié Salpêtrière, Paris, and Inserm Unit 1151, Paris.We generated a second MFA cohort (n = 71) as well as a group of control subjects (n = 496) and a cohort of women with breast cancer (n = 119). We also generated two transgenic mouse models carrying the coding sequences of human PRLRWe aimed to determine the prevalence of PRLR variants in these three populations and to uncover any association of the latter with specific tumor pattern, especially in patients with breast cancer.This study did not highlight a higher prevalence of PRLR variants in the MFA group and in the breast cancer group compared with control subjects. Transgenic mice expressing PRLRPRLR |
| Databáze: | OpenAIRE |
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