The cylindromatosis (CYLD) gene and head and neck tumorigenesis

Verhoeft, Krista Roberta; Ngan, Hoi Lam; Lui, Vivian Wai Yan

doi:10.1186/s41199-016-0012-y

Cancers of the Head & Neck

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
Age of onset, Gender	Severity	DNA	Protein		DNA	Protein	Malignancy	Sequencing method and reference
35, F	Md	2070delT	F690fs	T1 T2 T3	n.s., n.s. n.s. undetectable	I645V, R936^c Q731^c 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	R936^c	T1	n.s., n.s.	R936^c, 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	W847^c	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	Y458^c	T1 T2 T3	1736_1739dupTGGA LOH 1794C > A	E580Dfs - Y598^c	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	Y458^c	T1 T2 T3	LOH LOH 1540dupA	- - T514Nfs	n.s. n.s. n.s.
n.s., F (Family2 mother)	S	2104delA	I702^c	T1	1112C > A	S371^c	n.s.
n.s., F (Family2 daughter)	Md-S	2104delA	I702^c	T1	2467C > T	Q823^c	n.s.
n.s., M	S	2108G > C	R703T	T1 T2	2806C > T LOH	R936^c -	n.s. n.s.
n.s., F	Md-S	2119C > T	Q707^c	T1 T2	LOH 2713C > T	- Q905^c	n.s. n.s.
46, F	Md	2170_2171insTC	K724Ifs	T1	2046_2047ins AGATCCG	E683Rfs	n.s.
18, F	S	2299A > T 2279dupC 2279dupC	K767^c E911Rfs E911Rfs	T1 T2 T3	LOH LOH 2107A > T	- - R703^c	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]

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
Notes: ^aCases from related members of a family (mother and daughter), ^bCases from another family (mother and daughter)

Back to article page

ISSN: 2059-7347

Contact us

General enquiries: info@biomedcentral.com