the familial mutation Female sibling of the maternal grandfather not screened for the familial mutation Paternal cousins m (siblings) Ricketts et al Paternal distant f 12 15/M None SDHB NA NA Disease free (10.8 mo) J Urol [22] relative c.268C>T all carrying the familial mutation 13 Ricketts et al 17/M None SDHB NA None NA Disease free (6.0 mo) J Urol [22] c.137G>A Multiple uterine fibroids Multiple benign & Daughter malignant - neoplasms pheochromocytoma Paternal Uncle existed in the age 20 60yrs family: & Paternal Cousin 53 Maternal Ojha yrs Maternal niece grandfather SDHB 14 Head Neck 52/F NA Disease free (35.5 mo) - head and neck c.689G>A RCC in later ganglioneuroma Pathol [23] PGLs & one years at the age of 13 adrenal PGL Ricketts et al - subsequently Mother’s J Urol [22] Maternal aunt demonstrated to sibling lung and brain carry the familial malignancies at mutation the age of 30 Mother’s sibling RCC, lung and breast carcinoma
the familial mutation Female sibling of the maternal grandfather not screened for the familial mutation 12 Ricketts et al J Urol [22] 15/M None SDHB c.268C>T NA Paternal m cousins (siblings) Paternal distant f relative all carrying the familial mutation NA Disease free (10.8 mo) 13 Ricketts et al J Urol [22] 17/M None SDHB c.137G>A NA None NA Disease free (6.0 mo) 14 & Ojha Head Neck Pathol [23] Ricketts et al J Urol [22] 52/F Paternal Uncle 60yrs Maternal grandfather RCC in later years Mother’s sibling SDHB c.689G>A NA Daughter - pheochromocytoma age 20 Paternal Cousin 53 yrs - head and neck PGLs & one PGL - subsequently demonstrated to carry the familial mutation Multiple uterine fibroids Multiple benign & malignant neoplasms existed in the family: Maternal niece adrenal ganglioneuroma at the age of 13 Maternal aunt lung and brain malignancies at the age of 30 Mother’s sibling RCC, lung and breast carcinoma Disease free (35.5 mo)
PAS_2014_05_30_GILL_AJSP-D-14-00284_SDC1.docx