Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

Kimura, Fuyo; Ueda, Ai; Sato, Eiichi; Akimoto, Jiro; Kaise, Hiroshi; Yamada, Kimito; Hosonaga, Mari; Kawai, Yuko; Teraoka, Saeko; Okazaki, Miki; Ishikawa, Takashi

doi:10.1186/s40792-017-0355-6

Surgical Case Reports

Table 1 Expression of hormone receptor in Cowden disease after 2000

From: Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease

Case	Age at surgery (Sex)	ER	PR	Her2	Pathology	Stage	Bilateral subtype	PTEN mutation
Kanayama Y, et al. (2011) [12]	61 (F)	+	Unknown	−	Invasive ductal carcinoma	T4cN2aM0	ER-PR-Her2-	Exon 5 exon 7 mutation
Morse CB, et al. (2015) [13]	40 (F)	n/a	n/a	n/a	ADH			Missense mutation
Kalin A (2013) [14]	37 (F)	+	+	−	Invasive ductal carcinoma	Stage IIb		Mutation
Peiró G, et al. (2010) [15]	44 (F)	+	+	−	Invasive ductal carcinoma	T2N0M0	ER+PR+Her2-	Exon 8 splice-acceptor site mutation
Erickson J, et al. (2010) [16]	39 (F)	+	+	Unknown	Invasive ductal carcinoma	Stage II		n/a
Winter H, et al. (2012) 17	35 (F)	+	+	−	Invasive ductal carcinoma	T3N1M1		Frameshift mutation
Seo M, et al. (2014) [18]	22 (F)	n/a	n/a	n/a	DCIS			Frameshift mutation
Sabaté JM, et al. (2006) [19]	42 (F)	−	−	+	Invasive ductal carcinoma	T2N0M0		Mutation
Sabaté JM, et al. (2006) [19]	38 (F)	−	−	+	Invasive ductal carcinoma	T1N0M0		Mutation
Ball S, et al. (2001) [20]	38 (F)	+	Unknown	Unknown	Invasive ductal carcinoma	T2N0M0	DCIS	n/a
Walsh S, et al. (2011) [21]	34 (F)	+	Unknown	−	Invasive ductal carcinoma	T2N0M0		Exon 7 deletion and insertion
Fackenthal JD, et al. (2001) [22]	41 (F)	+	Unknown	Unknown	Invasive ductal carcinoma			Exon 7 splicing mutation
Baù MG, et al. (2004) [23]	50 (F)	+	Unknown	Unknown	Invasive ductal carcinoma	T1bN1aM0		Mutation
Nakamura T, et al. (2012) [24]	38 (F)	+	+	−	Invasive ductal carcinoma	T1N0M0		Exon 5 missense mutation
Kikuchi S, et al. (2014) [25]	40 (F)	+	+	−	Invasive ductal carcinoma	T1cN0M0		Exon 7 nonsense mutation
Kimura F, et al. (2017) [this case]	55 (F)	+	+	−	Invasive ductal carcinoma	T2N0M0		Exon 8 insertion

F female, M male, ADH atypical ductal hyperplasia, DCIS ductal carcinoma in situ

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