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SDHB/C/D variants in Cowden syndrome and Cowden syndrome-like patients with endometrial cancer.
| Variant | N | ||
|---|---|---|---|
|
PTEN mut+ N=26 (2/22=9%) |
SDHB | c.487T>C, p.Ser163Pro | 2 |
|
PTEN mut- or VUS n=345 (34/345=10%) |
SDHB | c.487T>C, p.Ser163Pro c.8C>G, p.Ala3Gly |
16 1 |
| SDHC | c.430G>C, p.Glu144Gln | 5 | |
| SDHD | c.278A>G, p.Tyr93Cys c.149A>G, p.His50Arg c.34G>A, p.Gly12Ser |
2 6 6 |
