Germline BAP1 mutations misreported as somatic based on tumor-only testing.
Germline BAP1 mutations misreported as somatic based on tumor-only testing.
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DOI：
10.1007/s10689-016-9865-9
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发表时间：
2016-04
期刊：
影响因子：
2.2
通讯作者：
Cebulla CM
中科院分区：
文献类型：
--
作者：
Abdel-Rahman MH;Rai K;Pilarski R;Davidorf FH;Cebulla CM
我们提出了三个不相关的BAP 1生殖细胞突变误报告为体细胞突变的患者。他们都有很强的癌症家族史。其中一名患者患有浸润性乳腺癌，肿瘤组织显示突变体而不是野生型等位基因的部分缺失，这表明生殖系BAP 1突变对该患者的乳腺癌发展没有贡献。该数据强调了测序匹配生殖系和肿瘤DNA对于正确评估体细胞与生殖系突变状态的重要性。在进行仅肿瘤基因组检测的实验室报告的体细胞突变患者中，应考虑变异可能是种系突变的可能性，特别是如果个人和/或家族史表明遗传性癌症易感性。由于仅肿瘤检测可以揭示生殖系突变，因此应考虑接受检测的患者的伦理问题，包括适当的同意和遗传咨询。
We present three unrelated patients with germline mutations in BAP1 misreported as somatic mutations. All had strong family histories of cancer. One of these patients presented with an invasive breast cancer with the tumor tissue showing partial loss of the mutant rather than the wild type allele, suggesting that the germline BAP1 mutation didn’t contribute to breast cancer development in this patient. This data highlights the importance of sequencing matching germline and tumor DNA for proper assessment of somatic versus germline mutation status. In patients with somatic mutations reported from laboratories carrying out tumor-only genomic testing, the possibility that a variant may be a germline mutation should be considered, especially if the personal and/or family history suggests hereditary cancer predisposition. Since tumor-only testing can reveal germline mutations, ethical issues for patients being tested should be considered including proper consent and genetic counseling.