Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
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DOI：
10.1111/cge.12630
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发表时间：
2016-03
影响因子：
3.5
通讯作者：
Abdel-Rahman MH
中科院分区：
文献类型：
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作者：
Rai K;Pilarski R;Cebulla CM;Abdel-Rahman MH
BRCA 1相关蛋白-1（BAP 1）肿瘤易感综合征（BAP 1-TPDS）是最近发现的一种遗传性癌症综合征。这种肿瘤抑制基因的生殖系突变使家族易患各种恶性肿瘤。该基因的分子功能以及该综合征的临床表型仍有待阐明。我们试图对已发表的BAP 1-TPDS研究进行全面综述，以更全面地描述生殖系BAP 1突变的临床意义。我们还报告了另外两个具有生殖系BAP 1突变的家族。目前的证据表明，生殖系BAP 1突变使家族易患葡萄膜黑色素瘤、肾细胞癌、恶性间皮瘤、皮肤黑色素瘤，以及可能患一系列其他癌症。这些癌症中的一些倾向于更具侵袭性，具有转移的倾向，并且与具有等同癌症的非易感患者相比，具有BAP 1突变的患者在生命中更早发病。虽然还需要进一步的研究，但这些信息可以帮助这些患者及其家人的管理，诊断和治疗，并强调遗传咨询的重要性。
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations. We also report two additional families with germline BAP1 mutations. Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well. Some of these cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with BAP1 mutations as compared to non-predisposed patients with equivalent cancers. Although further research is necessary, this information can aid in the management, diagnosis, and therapy of these patients and their families, and highlights the importance of genetic counseling.