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Breast: carcinoma with t(1;3)(p36;q13) PRDM16::BBX

Written2016-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France.

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Abstract Review on t(1;3)(p36;q13) PRDM16/BBX in breast cancer, with data on the genes involved.


ICD-Topo C500-C506,C508-C509
ICD-Morpho 8500/3
Atlas_Id 5159
Phylum Female organs: Breast::Carcinoma
WHO/OMS Classification Female organs

Clinics and Pathology

Note Only one case to date, without further data; it is described as a breast adenocarcinoma, without location/morphology details (ductal carcinoma? lobular carcinoma?) (Yoshihara et al 2015).
Epidemiology Invasive breast carcinoma is the most common cancer in women, accounting for 22% of all female cancers. One million women worldwide are diagnosed with breast cancer every year (Carcangiu et al. 2005). The most common histologic type of invasive breast carcinoma is designated as ductal carcinoma (80% of all cases), with many morphologic variants. Invasive lobular carcinoma is the second major type (5-10%) of breast cancer (Carcangiu et al. 2005).

Genes involved and Proteins

Gene NamePRDM16 (PR domain containing 16)
Location 1p36.32
Dna / Rna 11 splice variants
Protein 1276 amino acids and smaller proteins. Contains a N-term PR domain; 7 Zinc fingers, a proline-rich domain, and 3 Zinc fingers in the C-term. Binds DNA. Transcription activator; PRDM16 has an intrinsic histone methyltransferase activity. PRDM16 forms a transcriptional complex with CEBPB. PRDM16 plays a downstream regulatory role in mediating TGFB signaling (Bjork et al., 2010). PRDM16 induces brown fat determination and differentiation. PRDM16 is expressed selectively in the earliest stem and progenitor hematopoietic cells, and is required for the maintenance of the hematopoietic stem cell pool during development. PRDM16 is also required for survival, cell-cycle regulation and self-renewal in neural stem cells (Chuikov et al., 2010; Kajimura et al., 2010; Aguilo et al., 2011; Chi and Cohen, 2016).

Gene NameBBX (BBX, HMG-box containing)
Location 3q13.12
Protein 941 amino acids; high mobility group (HMG)-box protein. These proteins possess a DNA-binding domain. They are involved in transcription, replication and DNA repair. BBX belongs to a novel subfamily of HMG-Box superfamily together with CIC (Chen et al., 2014). BBX proteins control growth and developmental processes of plants, including seedling photomorphogenesis, and photoperiodic regulation of flowering (Gangappa and Botto, 2014), but their function in animals is poorly known. Bbx is highly expressed in the cortex and hippocampus, and may be associated with central nervous system in zebrafish embryos (Chen et al., 2014). Homozygous Bbx mutants rats exhibit intrauterine growth retardation and male infertility, suggesting that loss of BBX induces apoptosis and results in spermiogenesis defects (Wang et al., 2016).


Prdm16 is a physiologic regulator of hematopoietic stem cells.
Aguilo F, Avagyan S, Labar A, Sevilla A, Lee DF, Kumar P, Lemischka IR, Zhou BY, Snoeck HW.
Blood. 2011 May 12;117(19):5057-66. doi: 10.1182/blood-2010-08-300145. Epub 2011 Feb 22.
PMID 21343612
Prdm16 is required for normal palatogenesis in mice.
Bjork BC, Turbe-Doan A, Prysak M, Herron BJ, Beier DR.
Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 11.
PMID 20007998
Breast tumors: an overview
Carcangiu, ML ; Casalini, P ; Ménard, S.
Atlas Genet Cytogenet Oncol Haematol. 2005;9(4):331-337.
Characterization of Bbx, a member of a novel subfamily of the HMG-box superfamily together with Cic.
Chen T, Zhou L, Yuan Y, Fang Y, Guo Y, Huang H, Zhou Q, Lv X.
Dev Genes Evol. 2014 Dec;224(4-6):261-8. doi: 10.1007/s00427-014-0476-x. Epub 2014 Aug 1.
PMID 25079045
The Multifaceted Roles of PRDM16: Adipose Biology and Beyond.
Chi J, Cohen P.
Trends Endocrinol Metab. 2016 Jan;27(1):11-23. doi: 10.1016/j.tem.2015.11.005. Epub 2015 Dec 11. Review.
PMID 26688472
Prdm16 promotes stem cell maintenance in multiple tissues, partly by regulating oxidative stress.
Chuikov S, Levi BP, Smith ML, Morrison SJ.
Nat Cell Biol. 2010 Oct;12(10):999-1006. doi: 10.1038/ncb2101. Epub 2010 Sep 12.
PMID 20835244
The BBX family of plant transcription factors.
Gangappa SN, Botto JF.
Trends Plant Sci. 2014 Jul;19(7):460-70. doi: 10.1016/j.tplants.2014.01.010. Epub 2014 Feb 24.
PMID 24582145
Initiation of myoblast to brown fat switch by a PRDM16-C/EBP-beta transcriptional complex.
Kajimura S, Seale P, Kubota K, Lunsford E, Frangioni JV, Gygi SP, Spiegelman BM.
Nature. 2009 Aug 27;460(7259):1154-8. Epub 2009 Jul 29.
PMID 19641492
PiggyBac Transposon-Mediated Mutagenesis in Rats Reveals a Crucial Role of Bbx in Growth and Male Fertility.
Wang CY, Tang MC, Chang WC, Furushima K, Jang CW, Behringer RR, Chen CM.
Biol Reprod. 2016 Sep;95(3):51. doi: 10.1095/biolreprod.116.141739. Epub 2016 Jul 27.
PMID 27465138
The landscape and therapeutic relevance of cancer-associated transcript fusions.
Yoshihara K, Wang Q, Torres-Garcia W, Zheng S, Vegesna R, Kim H, Verhaak RG.
Oncogene. 2015 Sep 10;34(37):4845-54. doi: 10.1038/onc.2014.406. Epub 2014 Dec 15.
PMID 25500544


This paper should be referenced as such :
Jean-Loup Huret
Breast: carcinoma with t(1;3)(p36;q13) PRDM16/BBX
Atlas Genet Cytogenet Oncol Haematol. 2017;21(11):429-430.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(1;3)(p36;q13) PRDM16/BBX

External links

Mitelman database t(1;3)(p36;q13) [CaseList]     t(1;3)(p36;q13) [Transloc - MCList]   PRDM16/BBX Fusion - MCList]
COSMIC[ PRDM16 ]   [ BBX ]
arrayMap arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaseBreast: carcinoma with t(1;3)(p36;q13) PRDM16::BBX
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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