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Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.

作者信息

Kang Hio Chung, Quigley David A, Kim Il-Jin, Wakabayashi Yuichi, Ferguson-Smith Malcolm A, D'Alessandro Mariella, Birgitte Lane E, Akhurst Rosemary J, Goudie David R, Balmain Allan

出版信息

J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28.

DOI:10.1038/jid.2013.45
PMID:23358096
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3664264/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afa3/3664264/d7f68f736fdd/nihms-438743-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afa3/3664264/d7f68f736fdd/nihms-438743-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/afa3/3664264/d7f68f736fdd/nihms-438743-f0001.jpg

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Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.多发性自愈性鳞状上皮瘤（MSSE）：9号染色体q22.3区域中与已知转化生长因子β受体1（TGFBR1）突变相邻区域的罕见变异提示双基因或多位点病因。
J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28.
2
Digenic/multilocus aetiology of multiple self-healing squamous epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus.多发性自愈性鳞状上皮瘤（弗格森-史密斯病）的双基因/多位点病因：转化生长因子β受体1（TGFBR1）及另一个连锁位点
Int J Biochem Cell Biol. 2014 Aug;53:520-5. doi: 10.1016/j.biocel.2014.04.007. Epub 2014 Apr 18.
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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.多发性自愈性鳞状上皮瘤是由 TGFBR1 中特定疾病谱的突变引起的。
Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780.
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[Multiple self-healing squamous epithelioma, or Ferguson-Smith disease: demonstration of mutations in the TGFβ-receptor].[多发性自愈性鳞状上皮瘤，即弗格森 - 史密斯病：转化生长因子β受体突变的证实]
Ann Dermatol Venereol. 2011 Nov;138(11):790-1. doi: 10.1016/j.annder.2011.09.005. Epub 2011 Oct 5.
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Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.多发性自愈性鳞状上皮瘤 (MSSE)：一种与染色体 9 长臂上第二个连锁位点的 和 功能丧失突变相关的双基因特征。
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Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.患者同时患有多发性自愈合鳞状上皮瘤和李-佛美尼综合征，携带新型 TGFBR1 变异。
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[Multiple self-healing squamous epithelioma is an inherited self-healing skin cancer condition].多发性自愈性鳞状上皮瘤是一种遗传性自愈性皮肤癌病症。
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The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.难以捉摸的多发性自愈性鳞状上皮瘤（MSSE）基因：进一步定位、候选基因分析及杂合性缺失
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Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma.不同的变体影响 TGFBR1 外显子 5 的差异剪接，导致 either Loeys-Dietz 综合征或多发性自愈合鳞状上皮瘤。
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Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes.多重自愈性鳞状上皮瘤（MSSE）基因定位以及对A组着色性干皮病（XPA）和patched（PTCH）作为候选基因的研究。
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Overview of familial syndromes with increased skin malignancies.

本文引用的文献

1
Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.小鼠和人类策略鉴定 PTPN14 为血管生成和遗传性出血性毛细血管扩张症的修饰因子。
Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633.
2
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.多发性自愈性鳞状上皮瘤是由 TGFBR1 中特定疾病谱的突变引起的。
Nat Genet. 2011 Feb 27;43(4):365-9. doi: 10.1038/ng.780.
3
Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma.
皮肤恶性肿瘤发病率增加的家族性综合征概述。
Arch Dermatol Res. 2023 May;315(4):707-727. doi: 10.1007/s00403-022-02447-8. Epub 2022 Nov 7.
4
Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in and Variants at a Second Linked Locus on the Long Arm of Chromosome 9.多发性自愈性鳞状上皮瘤 (MSSE)：一种与染色体 9 长臂上第二个连锁位点的 和 功能丧失突变相关的双基因特征。
Genes (Basel). 2020 Nov 26;11(12):1410. doi: 10.3390/genes11121410.
5
Pancreatic cancer occurrence in Ferguson-Smith syndrome.弗格森-史密斯综合征中的胰腺癌发生情况。
JAAD Case Rep. 2018 Jun 12;4(6):565-567. doi: 10.1016/j.jdcr.2018.05.010. eCollection 2018 Jul.
6
Targeting TGF-β Signaling for Therapeutic Gain.靶向 TGF-β 信号转导以获得治疗增益。
Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):a022301. doi: 10.1101/cshperspect.a022301.
7
Conditioning adaptive combination of P-values method to analyze case-parent trios with or without population controls.用于分析有或没有群体对照的病例-父母三联体的P值条件适应性组合方法
Sci Rep. 2016 Jun 24;6:28389. doi: 10.1038/srep28389.
8
Modeling cutaneous squamous carcinoma development in the mouse.小鼠皮肤鳞状细胞癌发展的建模
Cold Spring Harb Perspect Med. 2014 Sep 2;4(9):a013623. doi: 10.1101/cshperspect.a013623.
9
Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans.Adam17的基因变异以不同方式调节TGFβ信号通路，从而改变小鼠和人类的血管病理状况。
Proc Natl Acad Sci U S A. 2014 May 27;111(21):7723-8. doi: 10.1073/pnas.1318761111. Epub 2014 May 8.
染色体9q22.3区域候选基因PHF2、FANCC、PTCH1和XPA的改变：在早发性和晚发性乳腺癌中的病理意义
Mol Cancer. 2008 Nov 6;7:84. doi: 10.1186/1476-4598-7-84.
4
Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder?不同种族中的多发性自愈性鳞状上皮瘤：不仅仅是一种奠基者突变疾病？
J Invest Dermatol. 2007 Oct;127(10):2336-44. doi: 10.1038/sj.jid.5700914. Epub 2007 Jun 7.
5
Promotion of Hras-induced squamous carcinomas by a polymorphic variant of the Patched gene in FVB mice.FVB小鼠中Patched基因的多态性变体促进Hras诱导的鳞状细胞癌。
Nature. 2007 Feb 15;445(7129):761-5. doi: 10.1038/nature05489. Epub 2007 Jan 17.
6
The elusive multiple self-healing squamous epithelioma (MSSE) gene: further mapping, analysis of candidates, and loss of heterozygosity.难以捉摸的多发性自愈性鳞状上皮瘤（MSSE）基因：进一步定位、候选基因分析及杂合性缺失
Oncogene. 2006 Feb 2;25(5):806-12. doi: 10.1038/sj.onc.1209092.
7
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.由TGFBR1或TGFBR2突变引起的心血管、颅面、神经认知和骨骼发育改变综合征。
Nat Genet. 2005 Mar;37(3):275-81. doi: 10.1038/ng1511. Epub 2005 Jan 30.
8
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.痣样基底细胞癌综合征中果蝇patched人类同源物的突变
Cell. 1996 Jun 14;85(6):841-51. doi: 10.1016/s0092-8674(00)81268-4.
9
Human homolog of patched, a candidate gene for the basal cell nevus syndrome.patched的人类同源物，一种基底细胞痣综合征的候选基因。
Science. 1996 Jun 14;272(5268):1668-71. doi: 10.1126/science.272.5268.1668.
10
Multiple self-healing squamous epitheliomata (ESS1) mapped to chromosome 9q22-q31 in families with common ancestry.在有共同祖先的家族中，多个自愈性鳞状上皮瘤（ESS1）定位于9号染色体q22 - q31区域。
Nat Genet. 1993 Feb;3(2):165-9. doi: 10.1038/ng0293-165.