Article
Characterization of two constitutively active prolactin receptor variants in a cohort of 95 women with multiple breast fibroadenomas.
The Journal of clinical endocrinology and metabolism - 1 Jan 2010
Courtillot Carine, Chakhtoura Zeina, Bogorad Roman, Genestie Catherine, Bernichtein Sophie, Badachi Yasmina, Janaud Gilbert, Akakpo Jean-Pierre, Bachelot Anne, Kuttenn Frédérique, Goffin Vincent, Touraine Philippe
Abstract excerpt
BACKGROUND: The role of prolactin (PRL) and its receptor (hPRLR) in promoting breast tumors is debated. We recently identified a gain-of-function hPRLR variant (I146L) in four women with multiple breast fibroadenomas (MFA) and no control subject. OBJECTIVES: The specific aims were to describe this cohort of women presenting with MFA to identify and functionally characterize germline variants of hPRL/hPRLR genes...
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