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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)