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