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Fig. 3 | Biomarker Research

Fig. 3

From: Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

Fig. 3

Genetic Analyses. Direct sequencing data relative to the indicated region of BRCA2 gene demonstrating the biallelic mutations c.2944_2944delA exon 11 and c.658_659delGT exon 8 in patient’s blood (a) and tumor (b), present in mother’s blood (c) and father’s blood (d) respectively. MUT: mutated case, WT: wild type case. (e) Family pedigree: closed symbol: affected with cancer, open symbol: unaffected with cancer. The type of cancer and age at presentation are given under the symbol. Arrow: proband, blue plus sign: BRCA2 c.658_659delGT exon 8 mutation, red plus sign: BRCA2 c.2944_2944delA exon11 mutation. Pro: prostate cancer, Pan: pancreatic cancer, Ov: ovarian cancer, CNS: central nervous system tumor, Gas: Gastric cancer, WT: Wilms Tumor, MB: Medulloblastoma

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