Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
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DOI：
10.1002/gcc.22129
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发表时间：
2014-02
影响因子：
3.7
通讯作者：
Abdel-Rahman, Mohamed H.
中科院分区：
文献类型：
--
作者：
Pilarski, Robert;Cebulla, Colleen M.;Massengill, James B.;Rai, Karan;Rich, Thereasa;Strong, Louise;McGillivray, Barbara;Asrat, Mary-Jill;Davidorf, Frederick H.;Abdel-Rahman, Mohamed H.
BAP 1遗传性癌症易感综合征（MIM 614327）的临床表型包括葡萄膜黑色素瘤（UM）、皮肤黑色素瘤（CM）、肾细胞癌（RCC）和间皮瘤。然而，该综合征在UM患者中的频率以及与其他癌症的关联仍然不清楚。在这项研究中，我们筛选了46名先前未经测试的，不相关的UM患者，他们具有遗传性癌症的高风险，BAP 1的生殖系突变。我们还研究了另外四名有BAP 1遗传性癌症综合征个人或家族史的患者。我们在BAP 1中鉴定了三名具有生殖系致病性突变的患者（c.2050 C>T，pGln 684 *; c.1182 C>G，pTyr 394 * 和c.1882_1885delTCAC，pSer 628 Profs *8）。这三名患者中有两名患有UM，第三名患有可能来自肝胆管癌的转移性腺癌。报告的家族史包括UM、间皮瘤、RCC、CM和其他几种内部恶性肿瘤。本研究的结果证实了生殖系BAP 1突变与UM、间皮瘤、CM和RCC易感性之间的关联。然而，其他癌症，如胆管癌和乳腺癌可能是这种遗传性癌症易感综合征表型的一部分。此外，研究结果支持存在其他候选基因，除了BAP 1有助于遗传易感性UM。
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma. However, the frequency of the syndrome in patients with UM and the association with other cancers are still not clear. In this study, we screened 46 previously untested, unrelated UM patients with high risk for hereditary cancer for germline mutation in BAP1. We also studied four additional patients with a personal or family history suggestive of BAP1 hereditary cancer syndrome. We identified three patients with germline pathogenic mutations (c.2050 C>T, pGln684*; c.1182C>G, p.Tyr394*, and c.1882_1885delTCAC, p. Ser628Profs*8) in BAP1. Two of these three patients presented with UM and the third with a metastatic adenocarcinoma likely from a hepatic cholangiocarcinoma. Reported family histories included UM, mesothelioma, RCC, CM, and several other internal malignancies. The results of this study confirm the association between germline BAP1 mutation and predisposition to UM, mesothelioma, CM and RCC. However, other cancers, such as cholangiocarcinoma and breast carcinoma may be part of the phenotype of this hereditary cancer predisposition syndrome. In addition, the results support the existence of other candidate genes in addition to BAP1 contributing to hereditary predisposition to UM.
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影响因子：
1.3
作者：
Tong, Guo-Xia;Devaraj, Kalpana;Greenebaum, Ellen
通讯作者：
Greenebaum, Ellen
影响因子：
30.8
作者：
Wiesner, Thomas;Obenauf, Anna C.;Murali, Rajmohan;Fried, Isabella;Griewank, Klaus G.;Ulz, Peter;Windpassinger, Christian;Wackernagel, Werner;Loy, Shea;Wolf, Ingrid;Viale, Agnes;Lash, Alex E.;Pirun, Mono;Socci, Nicholas D.;Ruetten, Arno;Palmedo, Gabriele;Abramson, David;Offit, Kenneth;Ott, Arthur;Becker, Juergen C.;Cerroni, Lorenzo;Kutzner, Heinz;Bastian, Boris C.;Speicher, Michael R.
通讯作者：
Speicher, Michael R.
影响因子：
14.9
作者：
Hebsgaard, SM;Korning, PG;Brunak, S
通讯作者：
Brunak, S
影响因子：
7.4
作者：
Carbone M;Ferris LK;Baumann F;Napolitano A;Lum CA;Flores EG;Gaudino G;Powers A;Bryant-Greenwood P;Krausz T;Hyjek E;Tate R;Friedberg J;Weigel T;Pass HI;Yang H
通讯作者：
Yang H
影响因子：
4
作者：
Abdel-Rahman MH;Pilarski R;Cebulla CM;Massengill JB;Christopher BN;Boru G;Hovland P;Davidorf FH
通讯作者：
Davidorf FH