Thyroid gland & breast: Ni et al benign 38 Am J Hum 62/F No SDHD ND None pathology Genet [40] c.34G>A Uterine leiomyomas Breast Ni et al carcinoma 39 Am J Hum 53/ F No SDHD ND None Thyroid gland: Genet [40] c.433C>A benign pathology Gill et al 31 yrs Sister N Engl J Med Breast cancer [12] Nephew Nephew subsequently 40 34/F SDHB Neg Disease free (30 years) carrying the demonstrated to Gill et al c.166-170 delCCTC Extra-adrenal PGL familial carry the (intra-abdominal) Am J Surg mutation familial Pathol [4] mutation Positive personal history: Neg/Neg Papathomas et al 25/M Brother 23 yrs SDHB Extra-adrenal PGL AWED/31 41-42 Eur J 23/M Brother 25 yrs c.3G>A (1st brother) AWED/28 Endocrinol [41] Neg Negative family history Positive personal history: AWD/47 Papathomas et al HN PGLs (30/34 (liver & splenic metastatic Eur J SDHB 43 36/M None Neg yrs) disease--- Endocrinol exon 3 deletion intraabdominal recurrent [41] Negative family disease) history Male second at age 29 yrs Mother DOD Paik et al. cousin 2.5 years after widespread Asymptomatic SDHB 44 J Clin Oncol 27/M Neg None metastatic disease presentation Metastatic carrier of the c.88delC [16] (bone & liver metastatic RCC familial (DOD 37 yrs) disease) mutation 31 yrs Mother Gill et al Maternal Aunt Positive personal Breast cancer N Engl J Med history: subsequently Extra-adrenal PGL (4 years) 45 [12] 28/M SDHB Neg Disease free subsequently demonstrated to c.166-170 delCCTC (intra-abdominal) demonstrated the familial Gill et al to carry the mutation
38 Ni et al Am J Hum Genet [40] 62/F No SDHD c.34G>A ND None Thyroid gland & breast: benign pathology Uterine leiomyomas 39 Ni et al Am J Hum Genet [40] 53/ F No SDHD c.433C>A ND None Breast carcinoma Thyroid gland: benign pathology 40 Gill et al N Engl J Med [12] Gill et al Am J Surg Pathol [4] 34/F Nephew carrying the familial mutation SDHB c.166-170 delCCTC Neg Nephew Extra-adrenal PGL (intra-abdominal) Sister 31 yrs Breast cancer subsequently demonstrated to carry the familial mutation Disease free (30 years) 41-42 Papathomas et al Eur J Endocrinol [41] 25/M 23/M Brother 23 yrs Brother 25 yrs SDHB c.3G>A Neg/Neg Neg Positive personal history: Extra-adrenal PGL (1st brother) Negative family history AWED/31 AWED/28 43 Papathomas et al Eur J Endocrinol [41] 36/M None SDHB exon 3 deletion Neg Positive personal history: HN PGLs (30/34 yrs) Negative family history AWD/47 (liver & splenic metastatic disease--- intraabdominal recurrent disease) 44 Paik et al. J Clin Oncol [16] 27/M Male second cousin Metastatic RCC (DOD 37 yrs) SDHB c.88delC Neg None Mother Asymptomatic carrier of the familial mutation DOD at age 29 yrs 2.5 years after widespread metastatic disease presentation (bone & liver metastatic disease) 45 Gill et al N Engl J Med [12] Gill et al 28/M Maternal Aunt subsequently demonstrated to carry the SDHB c.166-170 delCCTC Neg Positive personal history: Extra-adrenal PGL (intra-abdominal) Mother 31 yrs Breast cancer subsequently demonstrated to the familial mutation Disease free (4 years)
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