BRCA2:c.67G>C is associated with aberrant splicing and an exceptional response to platinum-based chemotherapy (IMAGE)

Hiroshima University

BRCA2:c.67G>C is associated with aberrant splicing and an exceptional response to platinum-based chemotherapy

Caption

BRCA2:c.67G>C is associated with aberrant splicing and an exceptional response to platinum-based chemotherapy. (A) Clinical course and response to platinum-based chemotherapy in a patient with BRCA2:c.67G>C. (B–C) RT-PCR and Sanger sequencing demonstrate exon 2 skipping in BRCA2 mRNA amplicons corresponding to the exon-skipped transcript. (Nakahara et al. European Journal of Human Genetics. March 2, 2026) 

Credit

Nakahara et al. European Journal of Human Genetics. March 2, 2026

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