Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 38, 2008, Pages 14533-14538

  Bogorad, Roman L ^a,b   Courtillot, Carine ^a,b,c   Mestayer, Chidi ^a,b   Bernichtein, Sophie ^a,b   Harutyunyan, Lilya ^c   Jomain, Jean Baptiste ^a,b   Bachelot, Anne ^c   Kuttenn, Frédérique ^a,b,c   Kelly, Paul A ^a,b   Goffin, Vincent ^a,b   Touraine, Philippe ^a,b,c   Bachelot, A ^c   Belaroussi, B ^c   Bensimhon, J ^c   Berdah, J ^c   Blin, M J ^c   Boudinet, A ^c   Brethon, B ^c   Bricaire, C ^c   Caby, J ^c   Caillaud, G ^c   Carel, J C ^c   Chabbert Buffet, N ^c   Charitanski, H ^c   Chretien, C ^c   Clough, K ^c   Courtillot, C ^c   Delattre, G ^c   Denys, I ^c   Desthieux Ngo, K ^c   Detoeuf, M ^c   Dhainault, C ^c   Duflos, C ^c   Fiori, O ^c   Genestie, C ^c   Gibaud, G ^c   Gompel, A ^c   Gracia, C ^c   Grimard, A ^c   Hofman, C ^c   Hofman, H ^c   Kuttenn, F ^c   Laki, F ^c   Lanty, C ^c   Lefranc, J P ^c   Le Frere Belda, M A ^c   Leger, D ^c   Martinez, F ^c   May, A ^c   Meng, L ^c   Nos, C ^c   Pelletier, D ^c   Perrin, A ^c   Plu Bureau, G ^c   Raccah Tebbeca, B ^c   Saiovici, J C ^c   Salmon, R ^c   Sibout, M ^c   Sigal Zafrani, B ^c   Thalabard, J C ^c   Thibaud, E ^c   Thoury, A ^c   Touraine, P ^c   Triana Rabi, K B ^c   Uzan, S ^c   Viriot, J ^c   Yacoub, S ^c   more..

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Antagonist; Breast diseases; Constitutive activity; Cytokine receptor; Human mutation

Indexed keywords

ISOLEUCINE; LEUCINE; PROLACTIN RECEPTOR; STAT5 PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BREAST FIBROADENOMA; CELL DEATH; CELL PROLIFERATION; CONTROLLED STUDY; GENE MUTATION; GENETIC CODE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN ANALYSIS; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; REPORTER GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CELL LINE; ENZYME INHIBITORS; EXONS; FEMALE; FIBROADENOMA; GENE EXPRESSION REGULATION; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION, MISSENSE; PROSPECTIVE STUDIES; RECEPTORS, PROLACTIN; SIGNAL TRANSDUCTION; STAT5 TRANSCRIPTION FACTOR; TYRPHOSTINS;

EID: 55749085659     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0800685105     Document Type: Article

References (35)

1. Neville MC, McFadden TB, Forsyth I (2002) Hormonal regulation of mammary differentiation and milk secretion. J Mammary Gland Biol Neoplasia 7:49-66.
2. Ormandy CJ, et al. (2003) Investigation of the transcriptional changes underlying functional defects in the mammary glands of prolactin receptor knockout mice. Recent Prog Horm Res 58:297-323.
3. Glasow A, et al. (2001) Mutational analysis of the PRL receptor gene in human breast tumors with differential PRL receptor protein expression. J Clin Endocrinol Metab 86:3826-3832.
4. Canbay E, et al. (2004) Could prolactin receptor gene polymorphism play a role in pathogenesis of breast carcinoma? Curr Med Res Opin 20:533-540.
5. Vaclavicek A, et al. (2006) Association of prolactin and its receptor gene regions with familial breast cancer. J Clin Endocrinol Metab 91:1513-1519.
6. Lee SA, et al. (2007)Acomprehensive analysis of common genetic variation in prolactin (PRL) and PRL receptor (PRLR) genes in relation to plasma prolactin levels and breast cancer risk: The multiethnic cohort. BMC Med Genet 8:72.
7. Santen RJ, Mansel R (2005) Benign breast disorders. N Engl J Med 353:275-285.
8. Courtillot C, et al. (2005) Benign breast diseases. J Mammary Gland Biol Neoplasia 10:325-335.
9. Hughes, LE, Mansel, RE, Webster, DJT (2000) in Benign Disorders and Diseases of the Breast - Concepts and Clinical Management, eds Hughes LE, Mansel RE, Webster DJT (WB Saunders Ltd, Philadelphia), pp 21-34.
10. Touraine P, et al. (1998) Increased expression of prolactin receptor gene assessed by quantitative polymerase chain reaction in human breast tumors versus normal breast tissues. J Clin Endocrinol Metab 83:667-674.
11. Gill S, Peston D, Vonderhaar BK, Shousha S (2001) Expression of prolactin receptors in normal, benign, and malignant breast tissue: An immunohistological study. J Clin Pathol 54:956-960.
12. Fabre A, et al. (2007) Oral progestagens before menopause and breast cancer risk. Br J Cancer 96:841-844.
13. Parlati E, et al. (1987) Bromocriptine for treatment of benign breast disease: A double-blind clinical trial versus placebo. Acta Obstet Gynecol Scand 66:483-488.
14. Bole-Feysot C, Goffin V, Edery M, Binart N, Kelly PA (1998) Prolactin and its receptor: Actions, signal transduction pathways and phenotypes observed in prolactin receptor knockout mice. Endocr Rev 19:225-268.
15. LeBaron MJ, Ahonen TJ, Nevalainen MT, Rui H (2007) In vivo response-based identification of direct hormone target cell populations using high-density tissue arrays. Endocrinology 148:989-1008.
16. Lebrun JJ, Ali S, Goffin V, Ullrich A, Kelly PA (1995) A single phosphotyrosine residue of the prolactin receptor is responsible for activation of gene transcription. Proc Natl Acad Sci USA 92:4031-4035.
17. Menendez JA, Peirce SK, Siddiqui L, Chen WY, Lupu R (2005) Progesterone receptor isoform B exacerbates prolactin-induced up-regulation of fatty acid synthase (FAS) gene expression in breast cancer cells. AACR Meeting Abstracts:873-874.
18. Bernichtein S, et al. (2003) Development of pure prolactin receptor antagonists. J Biol Chem 278:35988-35999.
19. Wu SM, Leschek EW, Rennert OM, Chan WY (2000) Luteinizing hormone receptor mutations in disorders of sexual development and cancer. Front Biosci 5:D343-D352.
20. Elkins PA, et al. (2000) Ternary complex between placental lactogen and the extracellular domain of the prolactin receptor. Nat Struct Biol 7:808-815.
21. Jenkins BJ, Bagley CJ, Woodcock J, Lopez AF, Gonda TJ (1996) Interacting residues in the extracellular region of the common beta subunit of the human granulocytemacrophage colony-stimulating factor, interleukin (IL)-3, and IL-5 receptors involved in constitutive activation. J Biol Chem 271:29707-29714.
22. Gourdou I, et al. (1996) Development of a constitutively active mutant form of the prolactin receptor, a member of the cytokine receptor family. Mol Endocrinol 10:45-56.
23. Lee RC, Walters JA, Reyland ME, Anderson SM (1999) Constitutive activation of the prolactin receptor results in the induction of growth factor-independent proliferation and constitutive activation of signaling molecules. J Biol Chem 274:10024-10034.
24. Gourdou I, et al. (2004) Expression by transgenesis of a constitutively active mutant form of the prolactin receptor induces premature abnormal development of the mouse mammary gland and lactation failure. Biol Reprod 70:718-728.
25. Manhes C, et al. (2006) Local over-expression of prolactin in differentiating mouse mammary gland induces functional defects and benign lesions, but no carcinoma. J Endocrinol 190:271-285.
26. Rose-Hellekant TA, et al. (2003) Prolactin induces ERalpha-positive and ERalpha-negative mammary cancer in transgenic mice. Oncogene 22:4664-4674.
27. Hankinson SE, et al. (1999) Plasma prolactin levels and subsequent risk of breast cancer in postmenopausal women. J Natl Cancer Inst 91:629-634.
28. Tworoger SS, Hankinson SE (2008) Prolactin and breast cancer etiology: An epidemiologic perspective. J Mammary Gland Biol Neoplasia 13:41-53.
29. Cotarla I, et al. (2004) Stat5a is tyrosine phosphorylated and nuclear localized in a high proportion of human breast cancers. Int J Cancer 108:665-671.
30. Nevalainen MT, et al. (2004) Signal transducer and activator of transcription-5 activation and breast cancer prognosis. J Clin Oncol 22:2053-2060.
31. Lupu R, Menendez JA (2006) Targeting fatty acid synthase in breast and endometrial cancer: An alternative to selective estrogen receptor modulators? Endocrinology 147:4056-4066.
32. De Leener A, et al. (2006) Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. J Clin Endocrinol Metab 91:555-562.
33. Peirce SK, Chen WY, Chen WY (2001) Quantification of prolactin receptor mRNA in multiple human tissues and cancer cell lines by real time RT-PCR. J Endocrinol 171:R1-R4.
34. Goffin V, Touraine P, Culler MD, Kelly PA (2006) Drug insight: Prolactin-receptor antagonists, a novel approach to treatment of unresolved systemic and local hyperprolactinemia? Nat Clin Pract Endocrinol Metab 2:571-581.
35. Bernichtein S, Jeay S, Vaudry R, Kelly PA, Goffin V (2003) New homologous bioassays for human lactogens show that agonism or antagonism of various analogs is a function of assay sensitivity. Endocrine 20:177-190.