PMID: 21748247

Fresh surgical specimens yield breast stem/progenitor cells and reveal their oncogenic abnormalities.

Annals of surgical oncology
Pommier, Suellen J SJ, Hernandez, Ariel A, Han, Esther E, Massimino, Kristen K, Muller, Patrick P, Diggs, Brian B, Chamberlain, Erin E, Murphy, Jennifer J, Hansen, Juliana J, Naik, Arpana A, Vetto, John J, Pommier, Rodney F RF
2012-02

150 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
4-55599320-GA-TT KIT c.2446_2447delGAinsTT p.D816F Missense 17/21 -
4-55139774-C-G PDGFRA c.1435C>G p.R479G Missense 10/23 -
4-55139775-G-T PDGFRA c.1436G>T p.R479L Missense 10/23 -
4-1803664-C-T FGFR3 c.842C>T p.A281V Missense 7/18 -
4-55592102-AG-TT KIT c.1426_1427delAGinsTT p.S476F Missense 9/21 -
4-55593446-A-G KIT c.1603A>G p.M535V Missense 10/21 -
4-55593591-TAT-AAG KIT c.1657_1659delTATinsAAG p.Y553K Missense 11/21 -
4-55593651-C-G KIT c.1717C>G p.P573A Missense 11/21 -
2-39241008-C-T SOS1 c.2063G>A p.R688Q Missense 12/23 -
2-39234181-G-T SOS1 c.2664C>A p.H888Q Missense 16/23 -
2-39234181-G-C SOS1 c.2664C>G p.H888Q Missense 16/23 -
4-55597567-A-G KIT c.2215A>G p.R739G Missense 15/21 -
4-55598055-A-G KIT c.2252A>G p.D751G Missense 16/21 -
4-55598060-A-G KIT c.2257A>G p.T753A Missense 16/21 -
1-115256569-C-T NRAS c.142G>A p.G48S Missense 3/7 -
4-55602694-G-A KIT c.2515G>A p.E839K Missense 18/21 -
19-4117551-A-T MAP2K2 c.169T>A p.F57I Missense 2/11 -
4-55144547-C-T PDGFRA c.2021C>T p.T674I Missense 15/23 -
7-55241678-A-T EGFR c.2126A>T p.E709V Missense 18/28 -
4-55593609-G-A KIT c.1675G>A p.V559I Missense 11/21 -
4-1807890-A-C FGFR3 c.1949A>C p.K650T Missense 14/18 -
3-178952013-G-A PIK3CA c.3068G>A p.R1023Q Missense 21/21 -
7-55242484-TC-AT EGFR c.2254_2255delTCinsAT p.S752I Missense 19/28 -
1-115258730-C-T NRAS c.52G>A p.A18T Missense 2/7 -
4-1807889-A-C FGFR3 c.1948A>C p.K650Q Missense 14/18 -
7-55242482-C-T EGFR c.2252C>T p.T751I Missense 19/28 -
4-55595518-AC-GA KIT c.2008_2009delACinsGA p.T670E Missense 14/21 -
4-55599322-C-G KIT c.2448C>G p.D816E Missense 17/21 -
4-55599322-C-A KIT c.2448C>A p.D816E Missense 17/21 -
7-116398657-AACC-A MET c.2249_2251delCCA p.T750del InFrameDeletion 9/21 -
3-178938860-A-C PIK3CA c.2102A>C p.H701P Missense 14/21 -
7-140481418-C-T BRAF c.1390G>A p.G464R Missense 11/18 -
7-140481418-C-G BRAF c.1390G>C p.G464R Missense 11/18 -
7-140481405-A-C BRAF c.1403T>G p.F468C Missense 11/18 -
9-133748403-A-G ABL1 c.1064A>G p.E355G Missense 6/11 -
7-140481401-TCC-GCT BRAF c.1405_1407delGGAinsAGC p.G469S Missense 11/18 -
7-55242484-TC-GA EGFR c.2254_2255delTCinsGA p.S752D Missense 19/28 -
9-133748270-T-C ABL1 c.931T>C p.F311L Missense 6/11 -
9-133748272-C-A ABL1 c.933C>A p.F311L Missense 6/11 -
9-133748272-C-G ABL1 c.933C>G p.F311L Missense 6/11 -
9-133747520-A-G ABL1 c.827A>G p.D276G Missense 5/11 -
7-55242481-A-G EGFR c.2251A>G p.T751A Missense 19/28 -
4-55152092-G-T PDGFRA c.2524G>T p.D842Y Missense 18/23 -
4-55593448-G-C KIT c.1605G>C p.M535I Missense 10/21 -
4-55593448-G-A KIT c.1605G>A p.M535I Missense 10/21 -
4-55593448-G-T KIT c.1605G>T p.M535I Missense 10/21 -
12-25380279-C-T KRAS c.179G>A p.G60D Missense 3/5 -
4-55593613-TT-AG KIT c.1679_1680delTTinsAG p.V560E Missense 11/21 -
4-55593604-GGAA-G KIT c.1672_1674delAAG p.K558del InFrameDeletion 11/21 -
11-533873-C-G HRAS c.183G>C p.Q61H Missense 3/6 -
11-534289-C-G HRAS c.34G>C p.G12R Missense 2/6 -
4-55593615-G-A KIT c.1681G>A p.E561K Missense 11/21 -
4-55593659-ACTT-A KIT c.1727_1729delTTC p.L576del InFrameDeletion 11/21 -
8-38282209-G-T FGFR1 c.754C>A p.P252T Missense 7/18 -
8-38285938-G-A FGFR1 c.374C>T p.S125L Missense 4/18 -
3-178921495-C-T PIK3CA c.977C>T p.S326F Missense 5/21 -
4-55152101-CATG-C PDGFRA c.2536_2538delGAT p.D846del InFrameDeletion 18/23 -
4-55593689-C-T KIT c.1755C>T p.P585= Synonymous 11/21 -
4-55593689-C-A KIT c.1755C>A p.P585= Synonymous 11/21 -
19-4117550-A-C MAP2K2 c.170T>G p.F57C Missense 2/11 -
4-55593689-C-G KIT c.1755C>G p.P585= Synonymous 11/21 -
4-55144148-C-G PDGFRA c.1977C>G p.N659K Missense 14/23 -
4-55144148-C-A PDGFRA c.1977C>A p.N659K Missense 14/23 -
4-55593614-TGAG-T KIT c.1684_1686delGAG p.E562del InFrameDeletion 11/21 -
3-178936096-G-C PIK3CA c.1638G>C p.Q546H Missense 10/21 -
19-4117551-A-G MAP2K2 c.169T>C p.F57L Missense 2/11 -
11-533874-T-G HRAS c.182A>C p.Q61P Missense 3/6 -
3-178952117-A-T PIK3CA c.3172A>T p.I1058F Missense 21/21 -
4-55161380-G-A PDGFRA c.3211G>A p.D1071N Missense 23/23 -
7-140481477-C-T BRAF c.1331G>A p.R444Q Missense 11/18 -
13-28622490-T-C FLT3 c.1127A>G p.Y376C Missense 9/24 -
19-4117549-A-T MAP2K2 c.171T>A p.F57L Missense 2/11 -
19-4117549-A-C MAP2K2 c.171T>G p.F57L Missense 2/11 -
4-55593588-A-C KIT c.1654A>C p.M552L Missense 11/21 -
3-178952006-T-C PIK3CA c.3061T>C p.Y1021H Missense 21/21 -
3-178951964-G-C PIK3CA c.3019G>C p.G1007R Missense 21/21 -
4-55593588-A-T KIT c.1654A>T p.M552L Missense 11/21 -
4-55594262-T-G KIT c.1965T>G p.N655K Missense 13/21 -
17-37880997-G-A ERBB2 c.2326G>A p.G776S Missense 20/27 -
3-41266125-C-G CTNNB1 c.122C>G p.T41S Missense 3/15 -
3-41266124-A-T CTNNB1 c.121A>T p.T41S Missense 3/15 -
4-55561764-G-A KIT c.154G>A p.D52N Missense 2/21 -
13-28592634-CATG-C FLT3 c.2508_2510delCAT p.I836del InFrameDeletion 20/24 -
4-55599348-T-C KIT c.2474T>C p.V825A Missense 17/21 -
7-140481478-G-A BRAF c.1330C>T p.R444W Missense 11/18 -
7-140453137-C-A BRAF c.1798G>T p.V600L Missense 15/18 -
4-55593652-C-T KIT c.1718C>T p.P573L Missense 11/21 -
4-55593591-T-A KIT c.1657T>A p.Y553N Missense 11/21 -
4-55594262-T-A KIT c.1965T>A p.N655K Missense 13/21 -
4-55599334-T-G KIT c.2460T>G p.D820E Missense 17/21 -
15-66729193-A-G MAP2K1 c.401A>G p.Y134C Missense 3/11 -
3-178952018-A-T PIK3CA c.3073A>T p.T1025S Missense 21/21 -
15-66774126-G-A MAP2K1 c.602G>A p.R201H Missense 6/11 -
7-55241677-GAA-CAT EGFR c.2125_2127delGAAinsCAT p.E709H Missense 18/28 -
7-140481420-A-C BRAF c.1388T>G p.I463S Missense 11/18 -
4-55593600-ACAG-A KIT c.1666_1668delCAG p.Q556del InFrameDeletion 11/21 -
4-55594197-C-T KIT c.1900C>T p.R634W Missense 13/21 -
7-140481423-C-A BRAF c.1385G>T p.R462I Missense 11/18 -
15-66774131-G-C MAP2K1 c.607G>C p.E203Q Missense 6/11 -
4-55599338-A-C KIT c.2464A>C p.N822H Missense 17/21 -
12-112926900-C-A PTPN11 c.1520C>A p.T507K Missense 13/16 -
4-55593640-T-G KIT c.1706T>G p.V569G Missense 11/21 -
4-55599299-T-G KIT c.2425T>G p.C809G Missense 17/21 -
4-55599321-A-C KIT c.2447A>C p.D816A Missense 17/21 -
19-4090636-C-T MAP2K2 c.1163G>A p.R388Q Missense 11/11 -
4-55593608-G-C KIT c.1674G>C p.K558N Missense 11/21 -
4-55593608-G-T KIT c.1674G>T p.K558N Missense 11/21 -
4-55153643-A-G PDGFRA c.2609A>G p.N870S Missense 19/23 -
7-140453137-C-G BRAF c.1798G>C p.V600L Missense 15/18 -
4-55593654-A-G KIT c.1720A>G p.T574A Missense 11/21 -
15-66727442-T-C MAP2K1 c.158T>C p.F53S Missense 2/11 -
4-55152114-A-G PDGFRA c.2546A>G p.Y849C Missense 18/23 -
4-55593595-AAGT-A KIT c.1663_1665delGTA p.V555del InFrameDeletion 11/21 -
19-40741860-C-T AKT2 c.1112G>A p.R371H Missense 11/14 -
10-43610039-C-A RET c.1991C>A p.A664D Missense 11/20 -
19-40742220-T-C AKT2 c.904A>G p.S302G Missense 10/14 -
4-55151636-T-C PDGFRA c.2422T>C p.F808L Missense 17/23 -
4-55151638-T-A PDGFRA c.2424T>A p.F808L Missense 17/23 -
4-55599332-G-C KIT c.2458G>C p.D820H Missense 17/21 -
4-55599321-A-G KIT c.2447A>G p.D816G Missense 17/21 -
4-55152101-GCAT-G PDGFRA c.2533_2535delCAT p.H845del InFrameDeletion 18/23 -
4-55151638-T-G PDGFRA c.2424T>G p.F808L Missense 17/23 -
4-55593636-T-G KIT c.1702T>G p.Y568D Missense 11/21 -
4-55593685-T-C KIT c.1751T>C p.F584S Missense 11/21 -
10-43609943-AGCT-A RET c.1897_1899delCTG p.L633del InFrameDeletion 11/20 -
3-178952049-C-T PIK3CA c.3104C>T p.A1035V Missense 21/21 -
3-178952048-G-A PIK3CA c.3103G>A p.A1035T Missense 21/21 -
4-55597498-G-A KIT c.2146G>A p.D716N Missense 15/21 -
4-55593607-A-G KIT c.1673A>G p.K558R Missense 11/21 -
4-55593627-G-A KIT c.1693G>A p.G565R Missense 11/21 -
4-55593630-A-G KIT c.1696A>G p.N566D Missense 11/21 -
7-140453091-C-T BRAF c.1844G>A p.G615E Missense 15/18 -
7-55242485-C-T EGFR c.2255C>T p.S752F Missense 19/28 -
5-41925435-C-G FBXO4 c.24C>G p.S8R Missense 1/7 -
12-25380282-G-A KRAS c.176C>T p.A59V Missense 3/5 -
3-178952139-A-T PIK3CA c.3194A>T p.H1065L Missense 21/21 -
4-55595636-CA-TT KIT c.2126_2127delCAinsTT p.S709F Missense 14/21 -
5-41925499-GG-AA FBXO4 c.88_89delGGinsAA p.G30N Missense 1/7 -
3-178952019-C-T PIK3CA c.3074C>T p.T1025I Missense 21/21 -
4-55139775-G-A PDGFRA c.1436G>A p.R479Q Missense 10/23 -
4-55592151-A-G KIT c.1475A>G p.K492R Missense 9/21 -
4-55593447-T-C KIT c.1604T>C p.M535T Missense 10/21 -
7-140481480-C-G BRAF c.1328G>C p.R443T Missense 11/18 -
5-41927151-C-A FBXO4 c.226C>A p.P76T Missense 2/7 -
5-41925446-C-T FBXO4 c.35C>T p.S12L Missense 1/7 -
2-39278406-C-T SOS1 c.743G>A p.R248H Missense 6/23 -
4-55595534-A-G KIT c.2024A>G p.Y675C Missense 14/21 -
4-55593627-G-C KIT c.1693G>C p.G565R Missense 11/21 -
5-41925479-T-A FBXO4 c.68T>A p.L23Q Missense 1/7 -
4-55595563-A-G KIT c.2053A>G p.K685E Missense 14/21 -