期刊
FAMILIAL CANCER
卷 15, 期 2, 页码 327-330出版社
SPRINGER
DOI: 10.1007/s10689-016-9865-9
关键词
BAP1; Hereditary cancer predisposition; Familial cancer; Uveal melanoma
资金
- Patti Blow Research Fund in Ophthalmology from the American Cancer Society [IRG-67-003-47]
- Ohio Lions Eye Research Foundation
- Ocular Melanoma Foundation
- Melanoma Know More Foundation
- National Cancer Institute [R21CA191943]
- National Eye Institute [K08EY022672]
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.
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