Fig. 3: Sanger sequencing and MLPA results from normal and tumor samples indicate that the c.1813dup and c.7796 A > G BRCA2 variants are in trans. | npj Breast Cancer

Fig. 3: Sanger sequencing and MLPA results from normal and tumor samples indicate that the c.1813dup and c.7796 A > G BRCA2 variants are in trans.

From: Clinical consequences of BRCA2 hypomorphism

Fig. 3: Sanger sequencing and MLPA results from normal and tumor samples indicate that the c.1813dup and c.7796 A > G BRCA2 variants are in trans.

Sanger electropherograms for both variants c.1813dup (exon 10) and c.7796 A > G (exon 16) show forward sequences, except for the invasive ductal carcinoma sample (IDC) (b) exon 16. MLPA results show the allelic dosage in a ratio chart format as displayed by Coffalyser.Net software. Probe ratios between 0.7 and 1.3 (blue and red lines) showed the presence of two BRCA2 alleles for blood (a), primary IDC (b), primary ductal carcinoma in situ (DCIS) (c), and primary colorectal cancer (CRC) (d). However, probe ratios for metastatic tumors (e) and their corresponding PDX (f) were around 0.5, suggesting the presence of only one BRCA2 allele. All Sanger sequences are consistent with their corresponding MLPA findings, i.e. presence of heterozygote variants in Sanger matches with the presence of two allele MLPA evidence while the monoallelic presence of a variant matches with one allele from MLPA outcome. MLPA and Sanger sequences for the skin biopsy and the other metastatic and PDXs samples are shown in Figure S1. *indicates the variant location.

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