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1.
Figure 2

Figure 2. From: CONTRIBUTION TO FAMILIAL BREAST CANCER OF INHERITED MUTATIONS IN THE BRCA2-INTERACTING PROTEIN PALB2.

Splice mutations in PALB2. Effects on splicing of single bp genomic substitutions in PALB2 were evaluated by sequencing transcripts. PALB2 c.2559C>T leads to altered splicing and deletion of 29 bp in the PALB2 message. PALB2 c.3113G>A produces three different PALB2 messages: complete deletion of exon 10 (117 bp), use of an alternate splice site within exon 10 and deletion of 31 bp, and an immediate stop at codon 1038.

Silvia Casadei, et al. Cancer Res. ;71(6):2222-2229.

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2.
Figure 1

Figure 1. From: CONTRIBUTION TO FAMILIAL BREAST CANCER OF INHERITED MUTATIONS IN THE BRCA2-INTERACTING PROTEIN PALB2.

Truncating mutations in PALB2. Thirteen different truncating mutations in PALB2 were detected in familial breast cancer patients. On the PALB2 gene sequence, frameshift mutations are indicated in red, nonsense mutations in purple, and splice mutations in blue. On the PALB2 protein, yellow symbols indicate low complexity regions (LCR), the red symbol the coiled coil domain, and green symbols the WD40-like repeats that comprise beta propeller structures.

Silvia Casadei, et al. Cancer Res. ;71(6):2222-2229.

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3.
Figure 3

Figure 3. From: CONTRIBUTION TO FAMILIAL BREAST CANCER OF INHERITED MUTATIONS IN THE BRCA2-INTERACTING PROTEIN PALB2.

Loss of heterozygosity of wildtype PALB2 alleles in tumor tissue. Tumor tissue was available from seven patients with five different mutations. In all cases, cancer cells isolated by laser dissection carried only the mutant PALB2 allele. Each panel indicates the sequence at the mutant allele (arrow) for a wildtype control (WT), for constitutional genomic DNA from the carrier (MUT), and for laser-dissected tumor cells (Tumor).

Silvia Casadei, et al. Cancer Res. ;71(6):2222-2229.

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