학술논문

Is BRCA2 involved in early onset colorectal cancer risk?
Document Type
Article
Source
Clinical Genetics. Apr2020, Vol. 97 Issue 4, p668-669. 2p. 1 Graph.
Subject
*COLORECTAL cancer
*ADENOMATOUS polyposis coli
*RNA splicing
*ADENOMATOUS polyps
Language
ISSN
0009-9163
Abstract
The 297-bp band corresponds to the reference I BRCA2 i transcript and the 150-bp band corresponds to a BRCA2 transcript lacking exon 26. The 297-bpb and corresponds to the reference BRCA2 transcript and the 150-bp band corresponds to a BRCA2 transcript lacking exon 26 [Colour figure can be viewed at wileyonlinelibrary.com] gl RT-PCR analysis of patient RNA revealed that the c.9648 + 1G > A variant resulted in skipping of the second to last exon (exon 26), leading to an in-frame deletion of 46 amino acids (r.9502 9648del; p.Asn3168 Leu3216del) (Figure B). [Extracted from the article]