This work is licensed under a Table 2.
SDHA-D genetic variants and clinical outcome.
| Gene | Family (genetic variant) | Variant class | Number of individuals with a variant | Number of individuals with tumour diagnosis | Tumour type | Age at tumour diagnosis (years) | Malignant (M) | Age of individuals without tumour diagnosis | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCC | PGL | HNPGL | RCC | NA | Non-metastatic (N) | |||||||
| SDHA | A (c.762_770+17del, p. (Ala255_Gly257del) in exon 6/intron 6) | 5 | 2 | 1 | X | 19 | M (n = 1)d | 24 | ||||
| SDHB | B1 (c.287-?_540+?del/deletion of exon 4 and 5) | 5 | 10 | 4 | X | X | 12–28 | M (n = 3) N (n = 1)e |
12–70c | |||
| SDHB | B2 (c.769 C>G, p.Leu257Val in exon 8) | 4a | 7 | 0 | X | NA | NA | 11–54 | ||||
| SDHB | B3 (c.3G>A,p.Met1? in exon 1) | 4 | 9 | 5 | X | X | X | 28–57 | M (n = 1) N (n = 4) |
32–86 | ||
| SDHB | B4 (c.3G>A,p.Met1? in exon 1) | 4 | 8 | 2 | X | X | 43–50 | M (n = 1) N (n = 1) |
11–76 | |||
| SDHB | B5 (c.203G>A, Cys68Tyr in exon 3) | 4 | 3 | 1 | X | X | 34 | M | 35–65 | |||
| SDHB | B6 (c.343C>T, p.Arg115* in exon 4) | 5 | 4 | 1 | X | 41 | N | 21–51 | ||||
| SDHB | B7 (c.653G>A, p.Trp218* in exon 7) | 5 | 2 | 1 | X | 39 | M | 84 | ||||
| SDHB | B8 (c.683_684del, p.Glu228Glyfs*27 in exon 7) | 5 | 5 | 1 | X | 66 | N | 15–75 | ||||
| SDHB | BxF1 (c.416T>C, p.Leu138Pro in exon 4) | 5 | 1 | 0 | X | NA | NA | 28 | ||||
| SDHB | BxF4 (c.24C>T, p.Ser8Ser in exon 1) | 3 | 1 | 0 | X | NA | NA | 56 | ||||
| SDHB | BxF2 (c.424-19_424-14dup in intron 4) | 3 | 1 | 1 | X | 44 | N | – | ||||
| SDHB | BxF5 (c.487T>C, Ser163Pro in exon 5) | 3b | 1 | 1 | X | 65 | N | – | ||||
| SDHC | CM1, CM2 (c148C>T, pArg50Cys in exon 3) | 4 | 2 | 2 | X | 50–73 | NA (n = 1) M (n = 1) f |
– | ||||
| SDHC | CF3(c.191_207del in exon 4) | 5 | 1 | 1 | X | 61 | M | – | ||||
| SDHC | CM4 (c.496C>G, p.Leu166Val in exon 6) | 3 | 1 | 1 | X | 65 | Ng | – | ||||
| SDHD | DF1 (c.282C>T, p.Ser94Ser in exon 3) | 3 | 1 | 1 | X | 18 | M | – | ||||
| SDHD | DF2 (c.359T>C, p. Leu120Ser in exon 4) | 3 | 1 | 1 | X | 43 | M | – | ||||
aNo heterozygous carriers have developed tumours so far. Future follow-up examinations of heterozygous carriers may reveal if this variant can be classified as benign or pathogenic; bPolymorphism, allel frequency of 1.53% in European (non-Finnish) population; cOne individual deceased, age not included; dAM1: metastatic disease or synchronic tumours. eB1F4, B1F5: metastatic disease or synchronic tumours. B1M1: metastatic disease and new events; fCM2: metastatic disease or synchronic tumours; gCM4: Recurrent disease.
B, benign; HNPGL, head and neck paraganglioma; N, non-metastatic; NA, not available; PCC, phaechromocytoma; PGL, paraganglioma; RCC, renal cell carcinoma; SDH, succinate dehydrogenase.