A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome

Kim, Il Jin; Kang, Hio Chung; Shin, Yong Sam; Park, Hye Won; Jang, Sang Geun; Han, Song Yi; Lim, Sun Kyung; Lee, Min Ro; Chang, Hee Jin; Ku, Ja‐Lok; Yang, Han‐Kwang; Park, Jae Gahb

doi:10.1007/s10038-004-0193-9

Cited by 33 publications

(29 citation statements)

References 17 publications

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“…Intestinal type cancer is postulated to develop through a sequential pathway from normal mucosa, chronic atrophic gastritis, intestinal metaplasia and then to dysplasia (24)(25)(26). On the contrary, diffuse type cancer does not typically arise from recognizable precancerous lesions, and has a higher association with familial occurrence, suggesting a genetic susceptibility (27)(28)(29). According to our results that HITS expression was decreased in intestinal type but not in diffuse type gastric adenocarcinomas, HITS may be inactivated or deleted in the development of intestinal type carcinoma from precancerous lesions such as gastric glandular atrophy and intestinal metaplasia.…”

Section: Discussionmentioning

confidence: 99%

Induction of HITS, a newly identified family with sequence similarity 107 protein (FAM107B), in cancer cells by heat shock stimulation

Nakajima¹

2010

Int J Oncol

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Abstract. The Family with sequence similarity 107 (FAM107) possesses an N-terminal domain of unknown function (DUF1151) that is highly conserved beyond species. In human, FAM107A termed TU3A/DRR1 has been reported as a candidate tumor suppressor gene which expression is downregulated in several types of cancer, however no studies have investigated the other family protein, FAM107B. In the present study, we designated FAM107B as heat shockinducible tumor small protein (HITS) and studied its expression and functional properties in cancer. HITS is an 18-kDa nuclear protein expressed in a variety of tissues including stomach, colon, lung and lymphoid organs. In human gastric and colorectal cancers and a mouse model of colon cancer, its expression in tumor cells was much lower than normal epithelial cells, while expression pattern and intensity varied among different histological types of cancer. In functional analysis in vitro, forced expression of this protein suppresses the cellular responses to growth factors. Furthermore, HITS gene carries the promoter region providing heat shock transcription factor (HSF) binding sites and amplifying the transcription of HITS by heat shock or hyperthermia treatment both in vitro and in vivo. Thus HITS would be a potential tumor suppressor gene similar to TU3A containing heat responding elements, which contrasts with previously described oncogenic activities of other heat shock proteins such as HSP70 and HSP90.

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Section: Discussionmentioning

confidence: 99%

Induction of HITS, a newly identified family with sequence similarity 107 protein (FAM107B), in cancer cells by heat shock stimulation

Nakajima¹

2010

Int J Oncol

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“…Mutations in p53 3,4 , E-cadherin 5 , and in the transforming growth factor beta (TGF-) receptor 6 are involved in gastric carcinogenesis. Oncogenic activation of -catenin and Kras and amplification of c-erbB2 and c-met have also been reported to be involved in the process 7 .…”

Section: Introductionmentioning

confidence: 99%

Claudin-1 Has Tumor Suppressive Activity and Is a Direct Target of RUNX3 in Gastric Epithelial Cells

Chang

Ito

et al. 2010

Gastroenterology

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“…They concluded that the previous incorrect results may have originated from experimental artifacts generated during the PCR single-strand conformation polymorphism (SSCP) or cloning-sequencing steps (7). Although gastric cancer is the second most common type of cancer worldwide, germline mutations in CDH1 are found in only 1-3% of all gastric cancers (8).…”

Section: Discussionmentioning

confidence: 99%

Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

Kim

Ki²,

Kim³

et al. 2011

BMB Reports

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We report a novel mechanism of a CDH1 splicing mutation in a patient with signet ring cell carcinoma of the stomach. A 27-year-old man complaining of aggravated dyspepsia was diagnosed with signet ring cell carcinoma. Both his father and uncle had died of stomach cancer at a young age. DNA sequencing analysis of the CDH1 gene revealed a splice site mutation (c.833-2A＞G). By RNA/cDNA sequencing analysis, CDH1 c.833-2A＞G generated a new acceptor site within intron 6, causing the insertion of a 79-bp intronic sequence between exon 6 and 7 (r.833-79_833-1ins), and resulting in a frame shift. E-cadherin immunohistochemical staining revealed a loss of CDH1 expression. This study reveals the disease-causing mechanism of this splicing mutation, and emphasizes the need for functional studies using RNA samples for the accurate interpretation of detected splicing variant. This is the first reported case of a CDH1 mutation in a Korean patient. [BMB reports 2011; 44(11): 725-729]

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A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome

Cited by 33 publications

References 17 publications

Induction of HITS, a newly identified family with sequence similarity 107 protein (FAM107B), in cancer cells by heat shock stimulation

Induction of HITS, a newly identified family with sequence similarity 107 protein (FAM107B), in cancer cells by heat shock stimulation

Claudin-1 Has Tumor Suppressive Activity and Is a Direct Target of RUNX3 in Gastric Epithelial Cells

Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma

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