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Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.一个与PTEN单一胚系突变相关的家族中Cowden综合征和Bannayan-Zonana综合征的表型发现。
J Med Genet. 1999 May;36(5):360-4.
2
Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.在五个患有班纳扬-佐纳纳综合征的家族中鉴定PTEN突变。
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3
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.Bannayan-Riley-Ruvalcaba综合征中PTEN突变谱及基因型-表型相关性提示其与考登综合征为同一疾病实体。
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Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome.在一个患有考登综合征和班纳扬-佐纳纳综合征的家族中鉴定出一种PTEN突变。
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A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.一名早发性双侧乳腺癌患者中发现一种新的有害PTEN突变。
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本文引用的文献

1
Cowden's disease. A possible new symptom complex with multiple system involvement.考登病。一种可能涉及多系统的新症状复合体。
Ann Intern Med. 1963 Jan;58:136-42. doi: 10.7326/0003-4819-58-1-136.
2
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.患有班纳扬-莱利-鲁瓦尔卡巴综合征表型患者的PTEN基因突变
J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886.
3
The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.考登综合征的遗传基础：PTEN/MMAC1/TEP1基因的三个新突变
Hum Genet. 1998 Apr;102(4):467-73. doi: 10.1007/s004390050723.
4
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.考登病和巴纳扬-佐纳纳综合征的突变谱及基因型-表型分析，这两种错构瘤综合征存在种系PTEN突变
Hum Mol Genet. 1998 Mar;7(3):507-15. doi: 10.1093/hmg/7.3.507.
5
Clinical and pathological features of breast disease in Cowden's syndrome: an underrecognized syndrome with an increased risk of breast cancer.考登综合征乳腺疾病的临床和病理特征：一种未被充分认识但乳腺癌风险增加的综合征。
Hum Pathol. 1998 Jan;29(1):47-53. doi: 10.1016/s0046-8177(98)90389-6.
6
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.与乳腺癌、考登综合征和幼年性息肉病相关的PTEN基因的遗传性突变。
Am J Hum Genet. 1997 Dec;61(6):1254-60. doi: 10.1086/301639.
7
The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.MMAC1突变在早发性乳腺癌中的作用：与考登综合征相关时具有致病性，在BRCA1阴性病例中可排除。
Am J Hum Genet. 1997 Nov;61(5):1036-43. doi: 10.1086/301607.
8
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.考登病患者PTEN/MMAC1基因的种系突变。
Hum Mol Genet. 1997 Aug;6(8):1383-7. doi: 10.1093/hmg/6.8.1383.
9
Germline mutations in PTEN are present in Bannayan-Zonana syndrome.PTEN基因的种系突变存在于班纳扬-佐纳纳综合征中。
Nat Genet. 1997 Aug;16(4):333-4. doi: 10.1038/ng0897-333.
10
TEP1, encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor beta.TEP1由一个候选肿瘤抑制基因座编码，是一种受转化生长因子β调节的新型蛋白酪氨酸磷酸酶。
Cancer Res. 1997 Jun 1;57(11):2124-9.

一个与PTEN单一胚系突变相关的家族中Cowden综合征和Bannayan-Zonana综合征的表型发现。

Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.

作者信息

Celebi J T, Tsou H C, Chen F F, Zhang H, Ping X L, Lebwohl M G, Kezis J, Peacocke M

机构信息

Department of Dermatology, Columbia Presbyterian Hospital, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.

出版信息

J Med Genet. 1999 May;36(5):360-4.

PMID:10353779
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1734369/
Abstract

Cowden syndrome (CS) and Bannayan-Zonana syndrome (BZS) are two hamartoma syndromes with distinct phenotypic features. Although partial clinical overlap exists between CS and BZS, they are considered to be separate entities. PTEN has been identified as the susceptibility gene for both disorders, suggesting allelism. We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. To our knowledge, this is the first report that shows the presence of separate subjects with CS and with BZS in a single family associated with a single germline PTEN mutation.

摘要

考登综合征（CS）和班纳扬-佐纳纳综合征（BZS）是两种具有不同表型特征的错构瘤综合征。尽管CS和BZS之间存在部分临床重叠，但它们被认为是不同的疾病实体。PTEN已被确定为这两种疾病的易感基因，提示等位性。我们在一个家族中鉴定出PTEN基因的一个胚系突变R335X，该家族中有两名具有CS表型特征的女性成员和两名具有BZS表型特征的男性成员。据我们所知，这是第一份报告显示在一个与单个胚系PTEN突变相关的家族中存在分别患有CS和BZS的个体。