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Add exon 13 amplification in BRCA1 #26

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maehler opened this issue Feb 9, 2024 · 0 comments
Open

Add exon 13 amplification in BRCA1 #26

maehler opened this issue Feb 9, 2024 · 0 comments
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enhancement New feature or request

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@maehler
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maehler commented Feb 9, 2024

There is a known duplication of exon 13 in BRCA1 that is a founder mutation. There is interest to add this to the list of small amplifications that should be considered, at least here in Umeå. Of course, we can do this locally, but we were thinking that this might also be of national interest.

References:

@maehler maehler added the enhancement New feature or request label Feb 9, 2024
@maehler maehler changed the title Add exon 13 amplification of BRCA1 Add exon 13 amplification in BRCA1 Feb 9, 2024
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