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Table 2 Reported paired germline and somatic CYLD mutations in patients with the CYLD cutaneous syndrome

From: The cylindromatosis (CYLD) gene and head and neck tumorigenesis

Age of onset, Gender Severity Germline Mutation   Somatic Mutation Malignancy Sequencing method and reference
DNA Protein   DNA Protein
35, F Md 2070delT F690fs T1 T2 T3 n.s., n.s. n.s. undetectable I645V, R936c Q731c undetectable Benign Benign Benign PCR. Sequenced CYLD coding regions (exons 4–20) and splice sites. GenBank#:NT010498.15 [110]
24, F S-VS 2806C > T R936c T1 n.s., n.s. R936c, D889N Benign PCR. All CYLD exons [22]
teens, F S 2012-2021del 10, 2469 + 26G > A A671fs, splice site mutation T1 LOH - BCC PCR. Sequenced CYLD coding regions and splice sites. GenBank#: NT010505. Tumor LOH analysis using markers:D16S3044, D16S308, D16S503 [99]
n.s., M Md 2104_2105insA I702fs T1 2541G > A W847c Benign PCR. Sequenced CYLD coding regions (exons 4–19) and splice site. GenBank#:AJ250014. Tumor LOH analysis using markers: D9S925, D9S171 & D9S169-(chr.9p2), D9S15, D9S252, D9S303, and D9S287 (chr.9q22.3) and D16S 769, D16S 753, CDRP 28, CDRP 23, D16S 416, D16S 771, D16S 673 (chr.16) [24]
n.s., F (Family1 mother) S 1455 T > G Y458c T1 T2 T3 1736_1739dupTGGA LOH 1794C > A E580Dfs - Y598c n.s. Sequenced CYLD coding and non-coding regions (exons 1–20) were analyzed. GenBank#:AC007728. Tumor LOH analysis using markers: D16S304, D16S308, D16S419, D16S476, and D16S541 (chr.16q) and D16S407 (chr.16p) [90]
n.s., F (Family1 daughter) S 1455 T > G Y458c T1 T2 T3 LOH LOH 1540dupA - - T514Nfs n.s. n.s. n.s.
n.s., F (Family2 mother) S 2104delA I702c T1 1112C > A S371c n.s.
n.s., F (Family2 daughter) Md-S 2104delA I702c T1 2467C > T Q823c n.s.
n.s., M S 2108G > C R703T T1 T2 2806C > T LOH R936c - n.s. n.s.
n.s., F Md-S 2119C > T Q707c T1 T2 LOH 2713C > T - Q905c n.s. n.s.
46, F Md 2170_2171insTC K724Ifs T1 2046_2047ins AGATCCG E683Rfs n.s.
18, F S 2299A > T 2279dupC 2279dupC K767c E911Rfs E911Rfs T1 T2 T3 LOH LOH 2107A > T - - R703c n.s.
n.s., F Md-S 2729dup C E911Ffs T1 LOH - n.s.
n.s., M Md-S 2814_2817delGCTT L939Vfs T1 LOH - n.s.
~26, M S 1684 + 1G > A splice site mutation T1T2 T3 T4 T5 LOH LOH LOH LOH 2322delA - - - - E774Dfs Benign Benign BCC BCC CCD Sequencing regions were not reported. Tumor LOH analysis was performed (markers not specified) [93]
  1. The CYLD cutaneous syndrome patient cases reported with paired germline and somatic CYLD mutations; and including disease severity information and reported sequencing methods. Severity was defined as mild (Md), severe (S) or very severe (VS) using the following criteria: Md = few, small tumors, not painful or overgrowing. S = Multiple large growths, painful/ulcerating and resulting in tumor excision. VS = Multiple large tumors, often disfiguring, painful/ulcerating, resulting in multiple tumor excisions and/or complete scalp removal. Abbreviations: del deletion, ins insertion, dup duplicate, c = introduction of stop codon, BCC basal cell carcinoma, LOH Loss of heterozygosity, n.s. not stated, CCD clear cell differentiation, T individual tumor used for analysis
  2. Notes: aCases from related members of a family (mother and daughter), bCases from another family (mother and daughter)