Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers

Turner, N., Tutt, A. & Ashworth, A. Hallmarks of 'BRCAness' in sporadic cancers. Nat. Rev. Cancer 4, 814–819 (2004).

Herschkowitz, J.I. et al. Identification of conserved gene expression features between murine mammary carcinoma models and human breast tumors. Genome Biol. 8, R76 (2007).

Perou, C.M. et al. Molecular portraits of human breast tumours. Nature 406, 747–752 (2000).

Foulkes, W.D. BRCA1 functions as a breast stem cell regulator. J. Med. Genet. 41, 1–5 (2004).

Ganesan, S. et al. Abnormalities of the inactive X chromosome are a common feature of BRCA1 mutant and sporadic basal-like breast cancer. Cold Spring Harb. Symp. Quant. Biol. 70, 93–97 (2005).

Narod, S.A. & Foulkes, W.D. BRCA1 and BRCA2: 1994 and beyond. Nat. Rev. Cancer 4, 665–676 (2004).

Venkitaraman, A.R. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 108, 171–182 (2002).

Xu, X. et al. Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation. Nat. Genet. 22, 37–43 (1999).

Bouwman, P. & Jonkers, J. Mouse models for BRCA1 associated tumorigenesis: from fundamental insights to preclinical utility. Cell Cycle 7, 2647–2653 (2008).

Furuta, S. et al. Depletion of BRCA1 impairs differentiation but enhances proliferation of mammary epithelial cells. Proc. Natl. Acad. Sci. USA 102, 9176–9181 (2005).

Kubista, M., Rosner, M., Kubista, E., Bernaschek, G. & Hengstschlager, M. Brca1 regulates in vitro differentiation of mammary epithelial cells. Oncogene 21, 4747–4756 (2002).

Liu, S. et al. BRCA1 regulates human mammary stem/progenitor cell fate. Proc. Natl. Acad. Sci. USA 105, 1680–1685 (2008).

Clarke, R.B. et al. A putative human breast stem cell population is enriched for steroid receptor-positive cells. Dev. Biol. 277, 443–456 (2005).

Dontu, G. et al. In vitro propagation and transcriptional profiling of human mammary stem/progenitor cells. Genes Dev. 17, 1253–1270 (2003).

Gudjonsson, T. et al. Isolation, immortalization, and characterization of a human breast epithelial cell line with stem cell properties. Genes Dev. 16, 693–706 (2002).

Raouf, A. et al. Transcriptome analysis of the normal human mammary cell commitment and differentiation process. Cell Stem Cell 3, 109–118 (2008).

Stingl, J., Eaves, C.J., Zandieh, I. & Emerman, J.T. Characterization of bipotent mammary epithelial progenitor cells in normal adult human breast tissue. Breast Cancer Res. Treat. 67, 93–109 (2001).

Villadsen, R. et al. Evidence for a stem cell hierarchy in the adult human breast. J. Cell Biol. 177, 87–101 (2007).

Ginestier, C. et al. ALDH1 is a marker of normal and malignant human mammary stem cells and a predictor of poor clinical outcome. Cell Stem Cell 1, 555–567 (2007).

Eirew, P. et al. A method for quantifying normal human mammary epithelial stem cells with in vivo regenerative ability. Nat. Med. 14, 1384–1389 (2008).

Shackleton, M. et al. Generation of a functional mammary gland from a single stem cell. Nature 439, 84–88 (2006).

Stingl, J. et al. Purification and unique properties of mammary epithelial stem cells. Nature 439, 993–997 (2006).

Gusterson, B.A., Ross, D.T., Heath, V.J. & Stein, T. Basal cytokeratins and their relationship to the cellular origin and functional classification of breast cancer. Breast Cancer Res. 7, 143–148 (2005).

Nagle, R.B. et al. Characterization of breast carcinomas by two monoclonal antibodies distinguishing myoepithelial from luminal epithelial cells. J. Histochem. Cytochem. 34, 869–881 (1986).

Kuperwasser, C. et al. Reconstruction of functionally normal and malignant human breast tissues in mice. Proc. Natl. Acad. Sci. USA 101, 4966–4971 (2004).

Asselin-Labat, M.L. et al. Gata-3 is an essential regulator of mammary-gland morphogenesis and luminal-cell differentiation. Nat. Cell Biol. 9, 201–209 (2007).

Romijn, H.J., van Huizen, F. & Wolters, P.S. Towards an improved serum-free, chemically defined medium for long-term culturing of cerebral cortex tissue. Neurosci. Biobehav. Rev. 8, 301–334 (1984).

Ma, Y. et al. The breast cancer susceptibility gene BRCA1 regulates progesterone receptor signaling in mammary epithelial cells. Mol. Endocrinol. 20, 14–34 (2006).

Poole, A.J. et al. Prevention of Brca1-mediated mammary tumorigenesis in mice by a progesterone antagonist. Science 314, 1467–1470 (2006).

Michaud, J. et al. Integrative analysis of RUNX1 downstream pathways and target genes. BMC Genomics 9, 363 (2008).

Nielsen, T.O. et al. Immunohistochemical and clinical characterization of the basal-like subtype of invasive breast carcinoma. Clin. Cancer Res. 10, 5367–5374 (2004).

Simon, R. et al. KIT (CD117)-positive breast cancers are infrequent and lack KIT gene mutations. Clin. Cancer Res. 10, 178–183 (2004).

Asselin-Labat, M.L. et al. Steroid hormone receptor status of mouse mammary stem cells. J. Natl. Cancer Inst. 98, 1011–1014 (2006).

Kauff, N.D. et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J. Clin. Oncol. 26, 1331–1337 (2008).

Kauff, N.D. et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med. 346, 1609–1615 (2002).

Rebbeck, T.R. et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. N. Engl. J. Med. 346, 1616–1622 (2002).

Narod, S.A. Modifiers of risk of hereditary breast cancer. Oncogene 25, 5832–5836 (2006).

Mann, G.J. et al. Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource. Breast Cancer Res. 8, R12 (2006).

Shultz, L.D. et al. Human lymphoid and myeloid cell development in NOD/LtSz-scid IL2Rγ null mice engrafted with mobilized human hemopoietic stem cells. J. Immunol. 174, 6477–6489 (2005).

Wagner, K.U. et al. Cre-mediated gene deletion in the mammary gland. Nucleic Acids Res. 25, 4323–4330 (1997).

Deome, K.B., Faulkin, L.J. Jr., Bern, H.A. & Blair, P.B. Development of mammary tumors from hyperplastic alveolar nodules transplanted into gland-free mammary fat pads of female C3H mice. Cancer Res. 19, 515–520 (1959).

Laidlaw, I.J. et al. The proliferation of normal human breast tissue implanted into athymic nude mice is stimulated by estrogen but not progesterone. Endocrinology 136, 164–171 (1995).

Gentleman, R.C. et al. Bioconductor: open software development for computational biology and bioinformatics. Genome Biol. 5, R80 (2004).

Smyth, G.K. Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3, Article3 (2004).