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. Author manuscript; available in PMC: 2013 Feb 15.
Published in final edited form as: Cancer. 2011 Jul 14;118(4):908–913. doi: 10.1002/cncr.26377

Table 3.

Specific mutation and other cancers in patients with inherited TP53 mutation and breast cancer

Pati
ent		 TP53 mutation HER2 IHC/
FISH		 Other cancers
Gene bank
ref seq
X54156a 		Coding DNA
sequenceb 		Mutation effect
1 g.13130 c.451C>G missense 3+ /amplified Bilateral breast cancer
2 g.14090_92 c.763delATC deletion amplified Astrocytoma/ phyllodes
3 g.14589 c.918+1G>T splice 3+ -
4 g.13152 c.473G>A missense 3+ Contra DCIS
5 g.13340 c.580C>T missense 0 Bilateral breast cancer
6 g.14070 c.743G>A missense 3+ GBM
7 g.14516 c.847C>T missense 0 - (Proph mast)
8 g.13203 c.524G>A missense 2+/equivocal liposarcoma
9 g.13419 c.659A>G missense 0 Adrenal carcinoma
10 g.13203 c.524G>A missense 3 + Bilateral breast cancer
11 g.12066 c.142delG frameshift 3+ Bilateral breast cancer
12 g.14070 c.743G>A missense Amplified -
13 g.13203 c.524G>A missense Amplified Multifocal breast ca/ contra DCIS
14 g.12113 c.189delTinsAGA frameshift 3+ -
15 Del E10–11 large deletion no specific endpoint deletion Non-amplified Sarcoma
16 g.13068 c.389T>A missense 3+ Contra DCIS
17 g.17602 c.1024C>T nonsense 3+ Contra DCIS
18 g.14501 c.832C>G missense Non-amplified (Proph mast);ovarian cystadenoma
19 g.14487 c.818G>A missense 1+ -(Proph mast)
20 g.13117 c.438G>A nonsense 0 (Proph mast);sarcoma, endometrial ca, RCC
21 g.14468 c.799C>T missense 3+ -
22 g.14502 c.833C>T missense 3+ -
23 g.14513 c.844C>T missense 3+ (Proph mast);adrenal ca, melanoma, thyroid ca
24 g.12108 c.184G>T nonsense 2+/Amplified Bilateral breast cancer
25 g.13116 c.437G>A nonsense 3+ Contra DCIS, colon ca; pancreatic ca
26 g.13419 c.659A>C missense 1+ Bilateral breast cancer; osteosarcoma
27 g.13203 c.524G>A missense Non-amplified Contra phyllodes, rhabdomyosarcoma
28 g.14060 c.733G>A missense Amplified Contra DCIS, astrocytoma, leiyomyosarcoma
29 g. 13346 c.586C>T missense 3+/amplified - (Proph mast)
30 g.13152 c. 473G>A missense 3+ -

Abbreviation: aa, amino acid, HER2, human epidermal growth factor receptor 2; IHC, immunohistochemistry; FISH, fluorescence in situ hybridization; Contra, contralateral; DCIS, ductal carcinoma in situ; GBM, glioblastoma multiforme; proph, prophylactic; RCC, renal cell carcinoma; ca, cancer.