PMID: 29907814

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific reports
EI Palmero, DM Carraro, B Alemar, MAM Moreira, Â Ribeiro-Dos-Santos, K Abe-Sandes, HCR Galvão, RM Reis, C de Pádua Souza, N Campacci, MI Achatz, RC Brianese, MN da Cruz Formiga, FB Makdissi, FR Vargas, AC Evangelista Dos Santos, HN Seuanez, KR Lobo de Souza, CBO Netto, P Santos-Silva, GS da Silva, RMR Burbano, S Santos, PP Assumpção, IMM Bernardes, TMB Machado-Lopes, TF Bomfim, MBP Toralles, I Nascimento, B Garicochea, SD Simon, S Noronha, FT de Lima, AM Chami, CM Bittar, J Bines, O Artigalas, MDP Esteves-Diz, TBP Lajus, ACLVC Gifoni, RSC Guindalini, TS Cintra, IVD Schwartz, P Bernardi, D Miguel, STDS Nogueira, J Herzog, JN Weitzel, P Ashton-Prolla
2018-06-15

201 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-41245729-TT-T BRCA1 c.1823delA p.Lys608Argfs*4 Frameshift 10/23 -
13-32914349-G-T BRCA2 c.5857G>T p.Glu1953* Nonsense 11/27 -
13-32907203-A-T BRCA2 c.1588A>T p.Lys530* Nonsense 10/27 -
17-41245636-TC-T BRCA1 c.1912delG p.Glu638Asnfs*13 Frameshift 10/23 -
17-41246433-C-T BRCA1 c.1115G>A p.Trp372* Nonsense 10/23 -
17-41244217-TGCTT-T BRCA1 c.3331_3334delCAAG p.Gln1111Asnfs*5 Frameshift 10/23 -
17-41258495-A-G BRCA1 c.190T>C p.Cys64Arg Missense 4/23 -
13-32914174-C-G BRCA2 c.5682C>G p.Tyr1894* Nonsense 11/27 -
17-41244291-A-C BRCA1 c.3257T>G p.Leu1086* Nonsense 10/23 -
13-32945092-G-A BRCA2 c.8488-1G>A - IntronicSNV - 19/26
13-32911687-TTAAT-T BRCA2 c.3195_3198delTAAT p.Asn1066Leufs*10 Frameshift 11/27 -
13-32906743-TT-T BRCA2 c.1128delT p.Phe376Leufs*23 Frameshift 10/27 -
17-41258474-T-C BRCA1 c.211A>G p.Arg71Gly Missense 4/23 -
17-41244826-C-A BRCA1 c.2722G>T p.Glu908* Nonsense 10/23 -
13-32921033-G-A BRCA2 c.7007G>A p.Arg2336His Missense 13/27 -
17-41199663-G-GA BRCA1 c.5463_5464insT p.His1822Serfs*8 Frameshift 22/23 -
13-32913456-A-AA BRCA2 c.4964_4964dupA p.Tyr1655*fs*1 Nonsense 11/27 -
13-32914438-GT-G BRCA2 c.5946delT p.Ser1982Argfs*22 Frameshift 11/27 -
17-41245073-TGT-T BRCA1 c.2477_2478delCA p.Thr826Argfs*4 Frameshift 10/23 -
17-41276049-A-G BRCA1 c.65T>C p.Leu22Ser Missense 2/23 -
13-32953577-C-T BRCA2 c.8878C>T p.Gln2960* Nonsense 22/27 -
17-41215384-GG-G BRCA1 c.5161delC p.Gln1721Serfs*9 Frameshift 18/23 -
13-32913471-CCT-C BRCA2 c.4979_4980delCT p.Pro1660Leufs*5 Frameshift 11/27 -
17-41219715-G-C BRCA1 c.4987-3C>G - IntronicSNV - 15/22
17-41226361-TT-T BRCA1 c.4663delA p.Arg1555Glyfs*4 Frameshift 14/23 -
13-32903606-TGT-T BRCA2 c.658_659delGT p.Val220Ilefs*4 Frameshift 8/27 -
13-32954009-C-T BRCA2 c.9076C>T p.Gln3026* Nonsense 23/27 -
17-41244004-G-A BRCA1 c.3544C>T p.Gln1182* Nonsense 10/23 -
13-32913454-T-A BRCA2 c.4962T>A p.Cys1654* Nonsense 11/27 -
17-41245594-TT-T BRCA1 c.1961delA p.Lys654Serfs*47 Frameshift 10/23 -
13-32906853-CT-C BRCA2 c.1238delT p.Leu413Hisfs*17 Frameshift 10/27 -
17-41246679-A-C BRCA1 c.869T>G p.Leu290* Nonsense 10/23 -
17-41246698-G-A BRCA1 c.850C>T p.Gln284* Nonsense 10/23 -
17-41246508-CAG-C BRCA1 c.1039_1040delCT p.Leu347Valfs*2 Frameshift 10/23 -
17-41246750-AAA-A BRCA1 c.798_799delTT p.Ser267Lysfs*19 Frameshift 10/23 -
17-41246044-AATTTA-A BRCA1 c.1504_1508delTTAAA p.Leu502Alafs*2 Frameshift 10/23 -
17-41223219-GAAGAG-G BRCA1 c.4712_4716delTCTCT p.Phe1571*fs*1 Frameshift 15/23 -
17-41276113-T-C BRCA1 c.1A>G p.Met1Val Missense 2/23 -
13-32953937-G-A BRCA2 c.9004G>A p.Glu3002Lys Missense 23/27 -
17-41246221-T-A BRCA1 c.1327A>T p.Lys443* Nonsense 10/23 -
13-32915103-CC-C BRCA2 c.6611delC p.Pro2204Leufs*2 Frameshift 11/27 -
13-32913656-CAG-C BRCA2 c.5164_5165delAG p.Ser1722Tyrfs*4 Frameshift 11/27 -
13-32945094-G-A BRCA2 c.8489G>A p.Trp2830* Nonsense 20/27 -
13-32920978-C-T BRCA2 c.6952C>T p.Arg2318* Nonsense 13/27 -
13-32950887-TT-T BRCA2 c.8713delT p.Tyr2905Metfs*4 Frameshift 21/27 -
17-41251825-TG-T BRCA1 c.514delC p.Gln172Asnfs*62 Frameshift 7/23 -
17-41245298-G-GG BRCA1 c.2250_2250dupC p.Met751Hisfs*11 Frameshift 10/23 -
13-32911337-TT-T BRCA2 c.2845delT p.Tyr949Metfs*11 Frameshift 11/27 -
13-32912172-CTG-C BRCA2 c.3680_3681delTG p.Leu1227Glnfs*5 Frameshift 11/27 -
13-32913843-AA-A BRCA2 c.5351delA p.Asn1784Thrfs*7 Frameshift 11/27 -
17-41243482-TGATT-T BRCA1 c.4065_4068delTCAA p.Asn1355Lysfs*10 Frameshift 10/23 -
17-41246077-G-A BRCA1 c.1471C>T p.Gln491* Nonsense 10/23 -
13-32914136-ATCAA-A BRCA2 c.5644_5647delTCAA p.Ser1882Lysfs*26 Frameshift 11/27 -
13-32913300-AA-A BRCA2 c.4808delA p.Asn1603Thrfs*14 Frameshift 11/27 -
17-41276048-T-TT BRCA1 c.66_66dupA p.Glu23Argfs*18 Frameshift 2/23 -
17-41244820-TGATT-T BRCA1 c.2727_2730delTCAA p.Asn909Lysfs*90 Frameshift 10/23 -
17-41219669-AGTTA-A BRCA1 c.5030_5033delCTAA p.Thr1677Ilefs*2 Frameshift 16/23 -
13-32913689-CTC-C BRCA2 c.5197_5198delTC p.Ser1733Argfs*9 Frameshift 11/27 -
13-32954180-C-T BRCA2 c.9154C>T p.Arg3052Trp Missense 24/27 -
17-41246461-TT-T BRCA1 c.1088delA p.Asn363Ilefs*11 Frameshift 10/23 -
13-32968940-A-T BRCA2 c.9371A>T p.Asn3124Ile Missense 25/27 -
13-32906571-A-AA BRCA2 c.956dupA p.Asn319Lysfs*8 Frameshift 10/27 -
17-41246714-A-AT BRCA1 c.833_834insA p.His279Serfs*8 Frameshift 10/23 -
13-32931877-A-G BRCA2 c.7618-2A>G - IntronicSNV - 15/26
13-32914133-TAAAT-T BRCA2 c.5641_5644delAAAT p.Lys1881Glnfs*27 Frameshift 11/27 -
17-41245936-G-A BRCA1 c.1612C>T p.Gln538* Nonsense 10/23 -
17-41215959-AAA-A BRCA1 c.5084_5085delTT p.Phe1695Cysfs*3 Frameshift 17/23 -
13-32914292-C-T BRCA2 c.5800C>T p.Gln1934* Nonsense 11/27 -
17-41197778-A-G BRCA1 c.5509T>C p.Trp1837Arg Missense 23/23 -
17-41244145-G-A BRCA1 c.3403C>T p.Gln1135* Nonsense 10/23 -
13-32914108-AAGTAA-A BRCA2 c.5616_5620delAGTAA p.Lys1872Asnfs*2 Frameshift 11/27 -
17-41223242-G-C BRCA1 c.4689C>G p.Tyr1563* Nonsense 15/23 -
13-32914245-CA-C BRCA2 c.5753delA p.His1918Leufs*45 Frameshift 11/27 -
17-41251899-T-C BRCA1 c.442-2A>G - IntronicSNV - 6/22
17-41215947-C-T BRCA1 c.5096G>A p.Arg1699Gln Missense 17/23 -
17-41256279-C-T BRCA1 c.302-1G>A - IntronicSNV - 5/22
13-32914910-G-GTGAA BRCA2 c.6418_6419insTGAA p.Gly2140Valfs*8 Frameshift 11/27 -
17-41246830-G-A BRCA1 c.718C>T p.Gln240* Nonsense 10/23 -
17-41243731-G-A BRCA1 c.3817C>T p.Gln1273* Nonsense 10/23 -
13-32931940-TTT-T BRCA2 c.7679_7680delTT p.Phe2560Serfs*5 Frameshift 16/27 -
17-41246754-AGAAC-A BRCA1 c.791_794delGTTC p.Ser264Metfs*33 Frameshift 10/23 -
17-41242982-TCT-T BRCA1 c.4165_4166delAG p.Ser1389*fs*1 Frameshift 11/23 -
17-41246512-GG-G BRCA1 c.1039delC p.Leu347Cysfs*27 Frameshift 10/23 -
13-32913455-TT-T BRCA2 c.4963delT p.Tyr1655Thrfs*15 Frameshift 11/27 -
17-41243785-T-TT BRCA1 c.3764_3764dupA p.Asn1255Lysfs*12 Frameshift 10/23 -
13-32912714-C-T BRCA2 c.4222C>T p.Gln1408* Nonsense 11/27 -
17-41243779-TCT-T BRCA1 c.3770_3771delAG p.Glu1257Glyfs*9 Frameshift 10/23 -
17-41245159-TCT-T BRCA1 c.2389_2390delGA p.Glu797Thrfs*3 Frameshift 10/23 -
13-32950932-A-G BRCA2 c.8754+4A>G - IntronicSNV - 21/26
13-32914735-AGGAA-A BRCA2 c.6243_6246delGGAA p.Glu2081Aspfs*4 Frameshift 11/27 -
17-41223176-CTG-C BRCA1 c.4754_4755delCA p.Pro1585Argfs*36 Frameshift 15/23 -
13-32907411-TCTTAT-T BRCA2 c.1796_1800delCTTAT p.Ser599*fs*1 Frameshift 10/27 -
17-41209082-G-GG BRCA1 c.5266_5266dupC p.Gln1756Profs*74 Frameshift 19/23 -
17-41246168-T-TT BRCA1 c.1380_1380dupA p.Phe461Ilefs*19 Frameshift 10/23 -
17-41251872-GAG-G BRCA1 c.470_471delCT p.Ser157*fs*1 Frameshift 7/23 -
17-41258497-A-T BRCA1 c.188T>A p.Leu63* Nonsense 4/23 -
17-41245861-G-A BRCA1 c.1687C>T p.Gln563* Nonsense 10/23 -
13-32936658-A-G BRCA2 c.7806-2A>G - IntronicSNV - 16/26
13-32937326-GG-G BRCA2 c.7987delG p.Glu2663Lysfs*10 Frameshift 18/27 -
17-41256137-A-T BRCA1 c.441+2T>A - IntronicSNV - 6/22
13-32912776-T-TT BRCA2 c.4284_4284dup p.Gln1429Serfs*9 Frameshift 11/27 -
13-32913565-A-AA BRCA2 c.5073_5073dupA p.Trp1692Metfs*3 Frameshift 11/27 -
17-41222949-TTCTTCTGGGGTCAGGCCAG-T BRCA1 c.4964_4982del19 p.Ser1655Tyrfs*16 Frameshift 15/23 -
13-32937586-AGA-A BRCA2 c.8247_8248delGA p.Lys2750Aspfs*13 Frameshift 18/27 -
13-32929170-A-T BRCA2 c.7180A>T p.Arg2394* Nonsense 14/27 -
13-32914897-ACTTAA-A BRCA2 c.6405_6409delCTTAA p.Asn2135Lysfs*3 Frameshift 11/27 -
17-41222990-TG-T BRCA1 c.4941delC p.Asn1647Lysfs*11 Frameshift 15/23 -
17-41245217-A-C BRCA1 c.2331T>G p.Tyr777* Nonsense 10/23 -
13-32937534-T-G BRCA2 c.8195T>G p.Leu2732* Nonsense 18/27 -
13-32931999-C-T BRCA2 c.7738C>T p.Gln2580* Nonsense 16/27 -
17-41246785-C-A BRCA1 c.763G>T p.Glu255* Nonsense 10/23 -
13-32912339-TGT-T BRCA2 c.3847_3848delGT p.Val1283Lysfs*2 Frameshift 11/27 -
17-41244014-TG-T BRCA1 c.3534delC p.Ser1178Argfs*32 Frameshift 10/23 -
13-32954030-A-AA BRCA2 c.9097dupA p.Thr3033Asnfs*11 Frameshift 23/27 -
13-32910659-AA-A BRCA2 c.2167delA p.Ser723Alafs*7 Frameshift 11/27 -
17-41215370-TCTTT-T BRCA1 c.5177_5180delGAAA p.Arg1726Lysfs*3 Frameshift 18/23 -
13-32915244-A-AA BRCA2 c.6752_6752dupA p.His2251Glnfs*10 Frameshift 11/27 -
13-32893444-A-T BRCA2 c.298A>T p.Lys100* Nonsense 3/27 -
13-32905112-TT-T BRCA2 c.738delT p.Phe246Leufs*5 Frameshift 9/27 -
17-41234451-G-A BRCA1 c.4327C>T p.Arg1443* Nonsense 12/23 -
17-41246869-C-A BRCA1 c.679G>T p.Glu227* Nonsense 10/23 -
17-41245509-T-TGG BRCA1 c.2038_2039insCC p.Lys680Thrfs*22 Frameshift 10/23 -
17-41244309-A-T BRCA1 c.3239T>A p.Leu1080* Nonsense 10/23 -
13-32911300-AACAA-A BRCA2 c.2808_2811delACAA p.Ala938Profs*21 Frameshift 11/27 -
17-41234491-G-T BRCA1 c.4287C>A p.Tyr1429* Nonsense 12/23 -
17-41199683-C-T BRCA1 c.5444G>A p.Trp1815* Nonsense 22/23 -
17-41245333-T-TT BRCA1 c.2217_2217dupA p.Val740Serfs*3 Frameshift 10/23 -
17-41244275-CAGGT-C BRCA1 c.3270_3273delACCT p.Pro1091Argfs*17 Frameshift 10/23 -
13-32914274-G-T BRCA2 c.5782G>T p.Glu1928* Nonsense 11/27 -
17-41256914-ACA-A BRCA1 c.273_274delTG p.Ala92Phefs*4 Frameshift 5/23 -
13-32914173-A-AA BRCA2 c.5681_5681dupA p.Tyr1894*fs*1 Nonsense 11/27 -
17-41223194-AAGGA-A BRCA1 c.4736_4739delCTTC p.Pro1579Leufs*21 Frameshift 15/23 -
13-32929050-C-T BRCA2 c.7060C>T p.Gln2354* Nonsense 14/27 -
13-32910997-A-AA BRCA2 c.2505_2505dupA p.Pro836Thrfs*2 Frameshift 11/27 -
17-41243921-T-TT BRCA1 c.3627dupA p.Glu1210Argfs*9 Frameshift 10/23 -
13-32906753-AA-A BRCA2 c.1138delA p.Ser380Valfs*19 Frameshift 10/27 -
17-41244529-GAATG-G BRCA1 c.3018_3021delTTCA p.His1006Glnfs*17 Frameshift 10/23 -
17-41243581-G-A BRCA1 c.3967C>T p.Gln1323* Nonsense 10/23 -
13-32890599-T-G BRCA2 c.2T>G p.Met1Arg Missense 2/27 -
13-32913650-T-TA BRCA2 c.5158_5159insA p.Ser1720Tyrfs*7 Frameshift 11/27 -
17-41244507-A-G BRCA1 c.3041T>C p.Met1014Thr Missense 10/23 -
13-32968951-C-T BRCA2 c.9382C>T p.Arg3128* Nonsense 25/27 -
13-32972349-GTATG-G BRCA2 c.9699_9702delTATG p.Cys3233Trpfs*15 Frameshift 27/27 -
13-32950869-C-T BRCA2 c.8695C>T p.Gln2899* Nonsense 21/27 -
17-41228505-C-A BRCA1 c.4484G>T p.Arg1495Met Missense 13/23 -
13-32954050-G-A BRCA2 c.9117G>A p.Pro3039Pro Synonymous 23/27 -
17-41246856-CGTCT-C BRCA1 c.689_692delAGAC p.Glu230Glyfs*3 Frameshift 10/23 -
13-32915148-C-G BRCA2 c.6656C>G p.Ser2219* Nonsense 11/27 -
13-32914873-T-TTT BRCA2 c.6381_6382insTT p.Lys2128Leufs*10 Frameshift 11/27 -
17-41226398-AGA-A BRCA1 c.4625_4626delCT p.Ser1542Trpfs*31 Frameshift 14/23 -
13-32914113-ATTAA-A BRCA2 c.5621_5624delTTAA p.Ile1874Argfs*34 Frameshift 11/27 -
13-32912371-TAT-T BRCA2 c.3879_3880delAT p.Leu1294Thrfs*3 Frameshift 11/27 -
13-32937362-A-G BRCA2 c.8023A>G p.Ile2675Val Missense 18/27 -
17-41243950-G-A BRCA1 c.3598C>T p.Gln1200* Nonsense 10/23 -
13-32912498-T-TA BRCA2 c.4006_4007insA p.Phe1336Tyrfs*2 Frameshift 11/27 -
13-32953939-AA-A BRCA2 c.9006delA p.Gly3003Glufs*25 Frameshift 23/27 -
13-32911193-TC-T BRCA2 c.2701delC p.Ala902Leufs*2 Frameshift 11/27 -
17-41256941-A-AT BRCA1 c.244_245insA p.Leu82Hisfs*3 Frameshift 5/23 -
13-32954031-C-CA BRCA2 c.9098_9099insA p.Gln3034Serfs*10 Frameshift 23/27 -
17-41246207-A-AC BRCA1 c.1340_1341insG p.His448Serfs*8 Frameshift 10/23 -
13-32968851-CAGACGAATGTTACAATTTACTGGCAATAAAGTTTTGGATAGACCTTAATGAGGACATTA-C BRCA2 c.9282_9397del116 p.Asp3095Argfs*16 Frameshift 25/27 -
17-41242963-G-A BRCA1 c.4183C>T p.Gln1395* Nonsense 11/23 -
17-41209078-C-CG BRCA1 c.5267_5268insC p.Gln1756Hisfs*74 Frameshift 19/23 -
17-41244640-T-TT BRCA1 c.2910_2910dupA p.His971Thrfs*21 Frameshift 10/23 -
17-41245371-AAG-A BRCA1 c.2176_2177delCT p.Leu726Serfs*13 Frameshift 10/23 -
17-41242961-C-T BRCA1 c.4185G>A p.Gln1395Gln Synonymous 11/23 -
13-32913321-GTG-G BRCA2 c.4829_4830delTG p.Val1610Glyfs*4 Frameshift 11/27 -
17-41219639-AACA-A BRCA1 c.5062_5064delGTT p.Val1688delVal InFrameDeletion 16/23 -
13-32968970-GG-G BRCA2 c.9401delG p.Gly3134Alafs*29 Frameshift 25/27 -
17-41209095-G-A BRCA1 c.5251C>T p.Arg1751* Nonsense 19/23 -
13-32914935-TCT-T BRCA2 c.6443_6444delCT p.Ser2148Tyrfs*2 Frameshift 11/27 -
13-32913027-CG-C BRCA2 c.4535delG p.Arg1512Leufs*31 Frameshift 11/27 -
17-41245146-ACA-A BRCA1 c.2405_2406delTG p.Val802Glufs*7 Frameshift 10/23 -
17-41251890-GG-G BRCA1 c.450delC p.Ser151Valfs*12 Frameshift 7/23 -
17-41215920-G-T BRCA1 c.5123C>A p.Ala1708Glu Missense 17/23 -
17-41244321-TCT-T BRCA1 c.3228_3229delAG p.Gly1077Alafs*8 Frameshift 10/23 -
13-32893307-A-AA BRCA2 c.161dupA p.Asn54Lysfs*10 Frameshift 3/27 -
13-32911538-G-T BRCA2 c.3046G>T p.Glu1016* Nonsense 11/27 -
13-32914960-CTC-C BRCA2 c.6468_6469delTC p.Gln2157Ilefs*18 Frameshift 11/27 -
17-41245993-TT-T BRCA1 c.1556delA p.Lys519Argfs*13 Frameshift 10/23 -
13-32945153-GGAAG-G BRCA2 c.8548_8551delGAAG p.Glu2850Glnfs*12 Frameshift 20/27 -
17-41226347-C-T BRCA1 c.4675+1G>A - IntronicSNV - 14/22
13-32907407-AA-A BRCA2 c.1792delA p.Thr598Hisfs*16 Frameshift 10/27 -
17-41245586-C-CC BRCA1 c.1962_1962dupG p.Tyr655Valfs*18 Frameshift 10/23 -
13-32969050-A-T BRCA2 c.9481A>T p.Lys3161* Nonsense 25/27 -
13-32910758-C-T BRCA2 c.2266C>T p.Gln756* Nonsense 11/27 -
17-41243029-C-A BRCA1 c.4117G>T p.Glu1373* Nonsense 11/23 -
13-32912623-C-CTGAGGA BRCA2 c.4131_4132insTGAGGA p.Thr1378*fs*1 Nonsense 11/27 -
17-41245759-C-A BRCA1 c.1789G>T p.Glu597* Nonsense 10/23 -
17-41243631-CAA-C BRCA1 c.3916_3917delTT p.Leu1306Aspfs*23 Frameshift 10/23 -
17-41215948-G-A BRCA1 c.5095C>T p.Arg1699Trp Missense 17/23 -
17-41243908-C-A BRCA1 c.3640G>T p.Glu1214* Nonsense 10/23 -
13-32912497-A-AA BRCA2 c.4005_4005dupA p.Phe1336Ilefs*2 Frameshift 11/27 -
13-32913843-A-AA BRCA2 c.5351dupA p.Asn1784Lysfs*3 Frameshift 11/27 -
13-32913709-T-TA BRCA2 c.5217_5218insA p.Leu1740Ilefs*3 Frameshift 11/27 -
13-32913460-A-AGT BRCA2 c.4968_4969insGT p.Asn1657Valfs*14 Frameshift 11/27 -
13-32911756-T-TT BRCA2 c.3264_3264dupT p.Gln1089Serfs*10 Frameshift 11/27 -
17-41258504-A-C BRCA1 c.181T>G p.Cys61Gly Missense 4/23 -
17-41199682-C-T BRCA1 c.5445G>A p.Trp1815* Nonsense 22/23 -
17-41276047-TCT-T BRCA1 c.68_69delAG p.Glu23Valfs*17 Frameshift 2/23 -
13-32906952-T-A BRCA2 c.1337T>A p.Leu446* Nonsense 10/27 -