The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Table 2 Recurrent CNV regions in patients without TP53 mutation

Chr	Start position	End position	Type	Size	Genes associated	Patient	Tumor	Age of onset	Tumor	Age of onset
chrX	148653235	148789920	Gain	136685	HSFX1, HSFX1, MAGEA9, MAGEA8	Y0123T000	Breast	37	Breast	37
chrX	148638057	148835731	Gain	197674	HSFX1, HSFX1, MAGEA9, MAGEA8	Y006T00	STS	15	Breast	32
chr19	2173067	2187671	Gain	14604	DOT1L, PLEKHJ1, hsa-mir-1227	Y101T000	Breast	48	Thyroid	52
chr19	2173067	2187671	Loss	14604	DOT1L, PLEKHJ1, hsa-mir-1227	Y0114T000	Osteosarcoma	30
chr5	140207385	140243110	Gain	35725	PCDHA11, PCDHA12, PCDHA13	Y0110T000	Breast	36
chr5	140207385	140243110	Loss	35725	PCDHA11, PCDHA12, PCDHA13	Y0112T000	Breast	34
chr7	2182941	2234914	Gain	51973	MAD1L1	Y0143T000	Breast	42
chr7	2182941	2244756	Loss	61815	MAD1L1, FTSJ2	Y0123T000	Bilateral breast	37, 37

ISSN: 1750-1172