Paternal Uncle 73yrs subsequently demonstrated to carry the familial mutation Ricketts et al 26 J Natl Cancer 30/F SDHB ND None … c.137G>A Inst [34] Ricketts et al 27 J Natl Cancer 38/M ND None … SDHB Inst [34] c.32G>A Cascón Positive personal et al SDHB 28 17/F None ND history: None AWD (10 years) J Med Genet exon 1 deletion Extra-adrenal PGL osseous metastatic disease [35] Positive personal history: Cascón et al SDHB Head and Neck PGL Genes 18yrs 29 26/M None ND Chromosomes Whole gene (Exons 1-8) Cancer [36] deletion Positive family history (pers. com. Dr M Robledo) Fleming et al SDHB 28/F c.759_765 + 7del 30 Histopathology ND [37] Fleming et al 31 Histopathology 69/F SDHB ND [37] c.320G>A None Jasperson et al SDHB Positive family 32 Familial Cancer 30/M None ND Disease free (? Mo) c.590C>G history (pers. [38] com. Dr K Jasperson)
Paternal Uncle 73yrs subsequently demonstrated to carry the familial mutation 26 Ricketts et al J Natl Cancer Inst [34] 30/F SDHB c.137G>A ND None … 27 Ricketts et al J Natl Cancer Inst [34] 38/M SDHB c.32G>A ND None … 28 Cascón et al J Med Genet [35] 17/F None SDHB exon 1 deletion ND Positive personal history: Extra-adrenal PGL None AWD (10 years) osseous metastatic disease 29 Cascón et al Genes Chromosomes Cancer [36] 26/M None SDHB Whole gene (Exons 1-8) deletion ND Positive personal history: Head and Neck PGL 18yrs Positive family history (pers. com. Dr M Robledo) 30 Fleming et al Histopathology [37] 28/F SDHB c.759_765 + 7del ND 31 Fleming et al Histopathology [37] 69/F SDHB c.320G>A ND 32 Jasperson et al Familial Cancer [38] 30/M None SDHB c.590C>G ND None Positive family history (pers. com. Dr K Jasperson) Disease free (? Mo)
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx