Genetic variants of prospectively demonstrated phenocopies in <i>BRCA1/2</i> kindreds.
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Abstract | :
In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic BRCA1/2 variant (path_BRCA1 or path_BRCA2). |
Year of Publication | :
0
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Journal | :
Hereditary cancer in clinical practice
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Volume | :
16
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Number of Pages | :
4
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Date Published | :
2018
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ISSN Number | :
1731-2302
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DOI | :
10.1186/s13053-018-0086-0
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Short Title | :
Hered Cancer Clin Pract
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