Table 1.

Impact of Next Generation Sequencing In Discovery Of Novel Cancer Predisposition Syndromes

Familial Cancer Syndrome		NGS	Gene	Cases used to identify
Pancreatic cancer	Jones et al., Science 2009⁶⁷	Exome	PALB2	1 affected familial pancreatic cancer
	Roberts et al., Can Disc 2012⁶⁸	WGS	ATM	WGS/Exome:16/22 affecteds 6/10 families
Pheochromocytoma	Comino-Mendez et al., Nat Gen 2011⁶⁹	Exome	MAX	3 affecteds from 3 families
Wilms Tumor	Mahamdallie et al., Nat Genet 2015⁷⁰	Exome	REST	4 families
AML/MDS	Ostergaard et al., Nat Gen 2011⁷¹	Exome	GATA2	3 unrelated affecteds (2 w/ familial)
Familial Myeloid	Saliba et al., Nat Genet 2015⁷²	Exome	ATG2B GSKIP	4 related kindreds
Familial Melanoma	Yokoyama et al., Nature 2011⁷³	WGS	TIFT	1 affected with familial melanoma
	Horn et al., Science 2013⁷⁴	Tar Seq	TERT	4 affecteds/1 unaffected in 1 kindred
Mesothelioma/uveal melanoma/renal	Testa et al., Nat Gen 2011⁷⁵ Farley et al., Mol Ca Res 2013⁷⁶	Exome	BAP1	2 Kindreds 1/83 kindreds
Colorectal adenomas/ca	Palles et al., Nat Genet 2013⁷⁷ Weren et al., Nat Genet 2015⁷⁸	WGS Exome	POLE, POLD1 NTHL1	20 affecteds /15 families 51 affecteds/48 families
Non Medullary Thyroid	Gara et al., NEJM 2015⁷⁹	Exome	HABP2	7 affected 1 kindred
Breast Cancer	Park et al., AJHG 2012⁸⁰	Exome	XRCC2	5 affecteds from 2 families
	Park et al., BCRT 2011⁸¹	Exome	FAN1	4 early-onset multiple-case families
	Ruark et al., Nature 2013⁸²	TarSeq	PPMD1	1,150 with breast cancer +/− ovarian
	Cybulski et at., Nature Genet 2015⁸³	Exome	RECQL	7 cases Quebec, 30 in Poland
Ovarian cancer	Rafnar et al., Nat Genet 2011⁸⁴	WGS	BRIP1	457 Icelanders
ALL	Shah et al., Nat Genet 2013⁶	Exome	PAX5	2 kindreds
Noetzli Nat Genet⁸⁵, Zhang Nat Genet⁸⁶, Topka PLoS Genet 2015⁷		Exome	ETV6	Multiple kindreds