Table 2

Clinical and molecular details of patients with NF1 and breast cancer

CaseGender NF1 mutationBreast cancerOther tumour/s*
cDNAmRNAProteinEffect†Age (years)Type†*
#01Fc.28dupr.(?)p.Val10Glyfx*28FS34D
#02Fc.288+1dupr.(?)p.Gln97Alafs8*SS55D
#03Fc.[334C=/334C>T]r.334C>Up.Gln112*NS
#04Fc.479+5G>Tr.(?)p.?SS51D
#05Fc.499_502delr.499_502delp.Cys167Glnfs*10FS29.8-–
#06Fc.603dupr.(?)p.Lys202*NSAstrocytoma (25 years before BC)
#07Fc.663G>Ar.(?)p.Trp221*NS51L
#08Fc.888+1G>Ar.731_888del158p.?SS55.3DSarcoma (arm), melanoma
#09Fc.889-2A>Gr.(?)p.?SS60D
#10Fc.1070T>Cr.(?)p.Leu357ProMS43.4
#11Fc.1139T>Cr.(?)p.Leu380ProMS40pNF
#12Fc.1148dupr.(?)p.Cys383Trpfs*13FS36D
#13Fc.1246C>Tr.1246C>Up.Arg416*NS
#14Fc.1261–1G>Tr.(?)p.?SS34
#15Fc.1318C>Tr.1318C>Up.Arg440*NS38Fibrosarcoma (38 years)
#16Fc.1318C>Tr.1318C>Up.Arg440*NS32D
#17Fc.1466A>Gr.1466_1527del62p.Tyr489*NS
#18Fc.1466A>Gr.1466_1527del62p.Tyr489*NS44D (ER−/PR−/HER2+)§pNF, MPNST
#19Fc.1527+2T>Cr.(?)p.?SSOvarian cancer
#20Fc.1541delr.1541delAp.Gln514Argfs*12FS54DGlomus tumour
#21Fc.1607C>Gr.(?)p.Ser536*NS65D (ER+/PR−/HER2−)MPNST, optic glioma
#22Fc.1683G>Ar.(?)p.Trp561*NS54Bil
#23Fc.1713G>Ar.(?)p.Trp571*NS30MPNST
#24Mc.1742_1743insAr.(?)p.(Cys582Leufs*6)FS40.7, 60.3Bil
#25Fc.1749delinsCAr.(?)p.Lys583Asnfs*5FS76
#26Fc.1882delr.(?)p.Tyr628Thrfs*3FS47, 51D, D
#27Fc.1885G>Ar.1846_1886del41p.[Gly629Arg, Gln616Glyfs*4]SS48
#28Fc.2125T>Cr.(?)p.(Cys709Arg)MS42
#29Fc.2251G>Ar.(?)p.(Gly751Arg)MS48Mother NF1-BC 42 years
#30Fc.2288T>Cr.(?)p.(Leu763Pro)MS38.9
#31Fc.2509T>Ar.(?)p.(Trp837Arg)MS29
#32Fc.2540T>Cr.2540U>Cp.(Leu847Pro)MS39D (ER+/PR+/HER2+)‡MPNST
#33Mc.2540T>Cr.2540U>Cp.(Leu847Pro)MS73.7
#34Fc.2619dupr.(?)p.Lys874*NS47D
#35Fc.2622_2623insAr.(?)p.Gly875Argfs*31FS50
#36Fc.2991–1G>Cr.(?)p.?SS50D
#37Fc.3046dupr.(?)p.Cys1016Leufs*5FSBilMelanoma, insulinoma
#38Fc.3158C>Gr.(?)p.Ser1053*NS
#39Fc.3410_3411delinsCr.3410_3411delinsCp.Arg1137Thrfs*5FS57pNF
#40Mc.3427C>Tr.3426_3496delp.(His1143Tyr, p.His1143Leufs*28)SS58DLung cancer
#41Fc.3494T>Cr.(?)p.(Ile1165Thr)MS38MPNST
#42Fc.3602T>Ar.(?)p.Leu1201*NS37MPNST
#43Fc.3721C>Tr.3721C>Up.Arg1241*NS56
#44Fc.3824delr.(?)p.Phe1275Serfs*10FS40D
#45Fc.3826C>Tr.3826C>Up.Arg1276*NS38MPNST
#46Fc.3916C>Tr.3916C>Up.Arg1306*NS44.5L
#47Fc.4163T>Gr.(?)p.(Met1388Arg)MS44.8DColorectal cancer
#48Fc.4200_4201delinsCATAr.(?)p.Tyr1401Ilefs*7FS39.5D
#49Fc.4269G>Cr.(?)p.(Lys1423Asn)SS43, 46BilMelanoma (55 years)
#50Fc.4274T>Gr.(?)p.(Leu1425Arg)MSThyroid adenoma, colon polyps, lipoma
#51Fc.4345delr.(?)p.Ser1449Alafs*13FS46D
#52Fc.4537C>Tr.4537C>Up.Arg1513*NS45D
#53Fc.4537C>Tr.4537C>Up.Arg1513*NS58Phaeochromocytoma
#54Fc.4719C>Gr.(?)p.Tyr1573*NS
#55Fc.4841_4842insAATr.(?)p.Tyr1614*NS56GIST (61 and 64 years)
#56Fc.4842T>Gr.4842U>Gp.Tyr1614*NS46D
#57Fc.4973_4978delr.(?)p.Ile1658_Tyr1659delIDpNF
#58Fc.5242C>Tr.5242C>Up.Arg1748*NS75pNF
#59Fc.5330delr.(?)p.Gln1777Argfs*4FS57pNF (2)
#60Fc.5426G>Tr.(?)p.Arg1809LeuMS
#61Fc.5747delr.(?)p.Ser1916Leufs*5FSpNF, GIST (caecum)
#62Fc.5861T>Cr.(?)p.Leu1954ProMS32
#63Fc.6349C>Tr.(?)p.Gln2117*NS46.8D
#64Fc.6575T>Gr.(?)p.(Met2192Arg)MS
#65Fc.6587delr.(?)p.Met2196Argfs*16FS30
#66Fc.6736A>Gr.6736_6756del21p.(Ile2246Val)/p.Ile2246_Lys2252delSS
#67Fc.6789_6792delr.6789_6792del4p.Tyr2264Thrfs*5FS60D
#68Fc.6792C>Ar.6757_6858del102p.Ala2253_Lys2286delSS49D
#69Fc.6792C>Gr.6757_6858del102p.Ala2253_Lys2286delSS48DMPNST, melanoma (57 years) BRCA2 c.5213_5216del p.Thr1738Ilefs*2
#70Fc.7365T>Gr.(?)p.Tyr2455*NS
#71Fc.7392T>Ar.(?)p.Tyr2464*NS
#72Fc.7486C>Tr.7486C>Up.Arg2496*NS
#73Fc.7528C>Tr.7528C>Up.Gln2510*NS58, 61D, D (ER+/PR−)
#74Fc.7846C>Tr.7846C>Up.Arg2616*NS37MPNST
#75Fc.7846C>Tr.7846C>Up.Arg2616*NS
#76Fc.7846C>Tr.7846C>Up.Arg2616*NS62D
#77Fc.7848_7851dupr.(?)p.Leu2618Asnfs*4FS
#78Fc.8097delr.(?)p.Lys2699Asnfs*19FS39DBrain (GBM)
  • *Where known, age of onset (years) in parentheses.

  • †Where known, ER/PR/Her2 status in parentheses.

  • ‡Case 3 in Yap et al. 50

  • §Case 6 in Yap et al. 50

  • BC, breast cancer; Bil, bilateral; D, intraductal; FS, frameshift; GBM, Glioblastoma multiforme; GIST, Gastrointestinal stromal tumour; pNF, Plexiform neurofibroma; ID, in-frame deletion; L, lobular; NF1, neurofibromatosis type 1; NS, nonsense; MS, missense; MPNST, malignant peripheral nerve sheath tumour; SS, splice site.