Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus

Risk, Janet M.; Evans, K; Jones, J.; Langan, Joanne E.; Rowbottom, L; McRonald, Fiona E.; Mills, H.S.; Ellis, Anthony; Shaw, J.M.; Leigh, Irene M.; Kelsell, David P.; Field, John K.

doi:10.1038/sj.onc.1205768

Cited by 36 publications

(17 citation statements)

References 40 publications

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“…In a cancer context, CYGB has been implicated as a TSG in familial tylosis with esophageal cancer and sporadic squamous cell esophageal carcinoma (23)(24)(25)(26), and there is preliminary evidence suggesting tumour suppressor activity of CYGB based on the observation of an inverse relationship between CYGB expression and colony formation in NSCLC and breast cancer cell lines (29). Recently, a CYGB knockout mouse has been generated and it was found that, upon exposure to N,N-diethylnitrosamine, CYGB-deficient mice were more susceptible to liver and lung cancer development, further supporting a role for this gene in cancer (78).…”

Section: Discussionmentioning

confidence: 99%

“…Of note, our candidate interval overlaps the familial tylosis with esophageal cancer locus (23). Although mutation analyses of RHBDF2 and CYGB did not identify any disease associated mutations, decreased expression of CYGB was observed in familial tylosis with esophageal cancer samples and cell lines derived from sporadic squamous cell esophageal carcinomas (23)(24)(25)(26). Further characterization of CYGB showed alterations in promoter CpG methylation in sporadic, but not familial tylosis with esophageal cancer (26).…”

Section: Introductionmentioning

confidence: 99%

“…Thus, CYGB appears to be emerging as a strong TSG candidate. RHBDF2 has not been investigated in cancers to the same extent, and thus its role in cancer is unknown (22)(23)(24).…”

Section: Introductionmentioning

confidence: 99%

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Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

et al. 2012

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Abstract. It has been proposed that the frequent loss of heterozygosity (LOH) of an entire chromosome 17 contig in epithelial ovarian cancers (EOC) is the consequence of the inactivation of multiple tumour suppressor genes on this chromosome. We report the characterization of a 453 Kb 17q25 locus shown previously to exhibit a high frequency of LOH in EOC samples. LOH analysis further defined the minimal region of deletion to a 65 Kb interval flanked by D17S2239 and D17S2244, which contains RHBDF2, CYGB and PRCD as tumour suppressor gene candidates. Tissue specific expression excluded PRCD as a candidate. RHBDF2 was expressed at low levels in the majority of benign and low malignant potential (LMP) tumours, and in a subset of malignant ovarian tumour samples, as compared with primary cultures of normal ovarian surface epithelial cell (NOSE) samples. CYGB was expressed at low levels in the majority of LMP and malignant samples compared with benign and NOSE samples. In contrast to CYGB expression, RHBDF2 was expressed at low or undetectable levels in EOC cell lines exhibiting tumourigenic characteristics and up-regulated in a genetically modified EOC cell line rendered non-tumourigenic. DNA sequence analysis identified variants but no apparent deleterious mutations in either gene. Methylation-specific PCR analysis suggested that promoter methylation of CYGB but not RHBDF2 occurred in 6 of 31 malignant samples. The results combined suggest that RHBDF2 and CYGB may play distinctive roles in ovarian cancer and could be added to the growing roster of chromosome 17 genes implicated in this disease.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Chromosome 17q25 genes, RHBDF2 and CYGB, in ovarian cancer

et al. 2012

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“…do zwiększonej aktywacji receptorów dla naskórkowego czynnika wzrostu (ang. epidermal growth factor -EGF), która może mieć udział w patogenezie raków przełyku [7,8].…”

Section: Zespoły Uwarunkowane Genetycznieunclassified

Dermatologic symptoms associated with gastrointestinal neoplasia

Młynarczyk-Bonikowska¹,

Muszyński²,

Majewski³

2017

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StreSzczenieNowotwory układu pokarmowego należą do najczęściej występujących chorób i są również jedną z najczęstszych nowotworowych przyczyn zgonów na świecie. Obecność charakterystycznych zmian skórnych pozwala na szybsze rozpoznanie i leczenie, a tym samym zwiększenie prawdopodobieństwa wyleczenia. W artykule przedstawiono najważ-niejsze skórne zespoły paraneoplastyczne, które mogą współistnieć z nowotworami przewodu pokarmowego, w tym rakiem jelita grubego, żołądka i przełyku oraz trzustki. Uwzględniono zespoły uwarunkowane genetycznie, takie jak zespół Cowden, zespół rodzinnie występu-jących licznych znamion atypowych -czerniak lub rak trzustki, zespoły Clarke Howela-Evansa, Peutza-Jeghersa, Muira-Torrego, Gardnera, zespoły nabyte, takie jak rogowacenie ciemne złośliwe, zespół tripe palms, Lesera-Trelat, Bazexa, hypertrichosis lanuginosa, erythema gyratum repens, zespół rakowiaka, zespół glukagonoma, a także przerzuty nowotworowe do skóry oraz nowotwory w niektórych przypadkach zapalenia skórno-mięśniowego. AbStrActGastrointestinal tumors are among the most common neoplastic causes of death worldwide. Presence of characteristic skin lesions can allow faster diagnosis and therapy and this way can increase the probability of a cure. In the paper we present the most important paraneoplastic syndromes that can coexist with gastrointestinal malignancy including colon, gastric, esophagus and pancreatic cancers. We take into account genetic syndromes such as Cowden syndrome, familial atypical multiple mole melanoma syndrome (FAMMM) (melanoma/pancreatic cancer), Clarke Howel-Evans, Peutz-Jeghers, Muir-Torre, Gardner syndromes and acquired syndromes such as acantosis nigricans maligna, tripe palms, Leser-Trelat, Bazex, hypertrichosis languinosa, erythema gyratum repens, carcinoid and glucagonoma syndrome. We also include cutaneous metastases and coexistence of neoplasia in some cases of dermatomyositis.

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“…The tylosis oesophageal cancer gene (TOC) is localized to a small region on band 17q25, a region frequently deleted in persons with sporadic squamous cell oesophageal tumours Risk et al, 2002). This region contains 5'end of uncharacterized (FM8) gene, which is likely non coding RNA, a promoter of another gene and the whole cytoglobin gene (Langan et al, 2004).…”

Section: Notementioning

confidence: 99%