PMID: 28127413

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary cancer in clinical practice
M Cruz-Correa, J Pérez-Mayoral, J Dutil, M Echenique, R Mosquera, K Rivera-Román, S Umpierre, S Rodriguez-Quilichini, M Gonzalez-Pons, MI Olivera, S Pardo,
2017

236 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-32913428-AGAAA-A BRCA2 c.4936_4939delGAAA p.Glu1646Glnfs*23 Frameshift 11/27 -
13-32913622-T-G BRCA2 c.5130T>G p.Tyr1710* Nonsense 11/27 -
13-32913622-T-A BRCA2 c.5130T>A p.Tyr1710* Nonsense 11/27 -
3-37058999-C-T MLH1 c.793C>T p.Arg265Cys Missense 10/19 -
3-37089168-T-TT MLH1 c.1890_1890dup p.Asp631*fs*1 Nonsense 16/19 -
17-41243859-A-C BRCA1 c.3689T>G p.Leu1230* Nonsense 10/23 -
3-37089133-GG-G MLH1 c.1855delG p.Ala619Leufs*18 Frameshift 16/19 -
5-112175903-AGA-A APC c.4612_4613delGA p.Glu1538Ilefs*5 Frameshift 16/16 -
3-37061940-GA-G MLH1 c.1024delA p.Met342Cysfs*25 Frameshift 11/19 -
13-32912075-CC-C BRCA2 c.3583delC p.Leu1195Cysfs*2 Frameshift 11/27 -
13-32913856-C-CC BRCA2 c.5364dupC p.Lys1789Glnfs*18 Frameshift 11/27 -
3-37048483-AG-A MLH1 c.382delG p.Ala128Glnfs*8 Frameshift 5/19 -
5-112175639-C-T APC c.4348C>T p.Arg1450* Nonsense 16/16 -
13-32914885-AA-A BRCA2 c.6393delA p.Lys2131Asnfs*6 Frameshift 11/27 -
2-47657053-TGTTAT-T MSH2 c.1249_1253delGTTAT p.Val417Thrfs*7 Frameshift 7/16 -
13-32911186-G-GG BRCA2 c.2694_2694dup p.Asn899Glufs*2 Frameshift 11/27 -
3-37053590-G-A MLH1 c.677G>A p.Arg226Gln Missense 8/19 -
17-41243790-AGA-A BRCA1 c.3758_3759delCT p.Ser1253*fs*1 Frameshift 10/23 -
13-32937381-ACA-A BRCA2 c.8042_8043delCA p.Thr2681Serfs*11 Frameshift 18/27 -
13-32912867-A-T BRCA2 c.4375A>T p.Asn1459Tyr Missense 11/27 -
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 -
3-37050358-CAA-C MLH1 c.507_508delAA p.Ser170*fs*1 Frameshift 6/19 -
17-41244740-TATCT-T BRCA1 c.2806_2809delGATA p.Asp936Serfs*63 Frameshift 10/23 -
13-32893307-A-AA BRCA2 c.161dupA p.Asn54Lysfs*10 Frameshift 3/27 -
17-41226411-G-GC BRCA1 c.4611_4612insG p.Gln1538Alafs*36 Frameshift 14/23 -
5-112151215-AT-A APC c.858delT p.His286Glnfs*7 Frameshift 9/16 -
13-32906412-TTT-T BRCA2 c.797_798delTT p.Phe266Trpfs*9 Frameshift 10/27 -
13-32913302-C-T BRCA2 c.4810C>T p.Leu1604Phe Missense 11/27 -
13-32910716-C-T BRCA2 c.2224C>T p.Gln742* Nonsense 11/27 -
13-32915121-GAA-G BRCA2 c.6629_6630delAA p.Glu2210Glyfs*14 Frameshift 11/27 -
17-41276047-TCT-T BRCA1 c.68_69delAG p.Glu23Valfs*17 Frameshift 2/23 -
13-32911179-AA-A BRCA2 c.2687delA p.Asn896Metfs*8 Frameshift 11/27 -
13-32913095-G-T BRCA2 c.4603G>T p.Ala1535Ser Missense 11/27 -
17-41234472-GAG-G BRCA1 c.4307_4308delCT p.Ser1436Phefs*4 Frameshift 12/23 -
5-112170850-A-AG APC c.1946_1947insG p.Asn649Lysfs*2 Frameshift 15/16 -
13-32914291-ACCAA-A BRCA2 c.5799_5802delCCAA p.Asn1933Lysfs*29 Frameshift 11/27 -
5-112174440-GC-G APC c.3149delC p.Ala1050Glufs*6 Frameshift 16/16 -
17-41223121-G-A BRCA1 c.4810C>T p.Gln1604* Nonsense 15/23 -
13-32913843-A-AA BRCA2 c.5351dupA p.Asn1784Lysfs*3 Frameshift 11/27 -
17-41243849-CTTTAC-C BRCA1 c.3700_3704delGTAAA p.Val1234Glnfs*8 Frameshift 10/23 -
17-41245480-TT-T BRCA1 c.2071delA p.Arg691Aspfs*10 Frameshift 10/23 -
5-112175390-C-T APC c.4099C>T p.Gln1367* Nonsense 16/16 -
13-32911756-T-TT BRCA2 c.3264_3264dupT p.Gln1089Serfs*10 Frameshift 11/27 -
17-41244820-G-A BRCA1 c.2728C>T p.Gln910* Nonsense 10/23 -
13-32913608-AAATA-A BRCA2 c.5116_5119delAATA p.Asn1706Leufs*5 Frameshift 11/27 -
13-32913771-C-G BRCA2 c.5279C>G p.Ser1760* Nonsense 11/27 -
13-32913795-CTT-C BRCA2 c.5303_5304delTT p.Leu1768Argfs*5 Frameshift 11/27 -
13-32914068-ATTAA-A BRCA2 c.5576_5579delTTAA p.Ile1859Lysfs*3 Frameshift 11/27 -
2-47702315-CC-C MSH2 c.1911delC p.Arg638Glyfs*47 Frameshift 12/16 -
13-32912277-C-A BRCA2 c.3785C>A p.Ser1262* Nonsense 11/27 -
2-47710068-C-T MSH2 c.2785C>T p.Arg929* Nonsense 16/16 -
2-47707901-GAG-G MSH2 c.2525_2526delAG p.Glu842Valfs*3 Frameshift 15/16 -
2-47643516-TG-T MSH2 c.1024delG p.Val342Leufs*15 Frameshift 6/16 -
17-41243788-TTA-T BRCA1 c.3759_3760delTA p.Lys1254Glufs*12 Frameshift 10/23 -
3-37089171-AT-A MLH1 c.1893delT p.Asp631Glufs*6 Frameshift 16/19 -
13-32937661-T-TT BRCA2 c.8322dupT p.Met2775Tyrfs*7 Frameshift 18/27 -
17-41251831-CGC-C BRCA1 c.508_509delCG p.Arg170Aspfs*11 Frameshift 7/23 -
17-41244217-TGCTT-T BRCA1 c.3331_3334delCAAG p.Gln1111Asnfs*5 Frameshift 10/23 -
17-41244291-A-C BRCA1 c.3257T>G p.Leu1086* Nonsense 10/23 -
2-47690182-G-T MSH2 c.1399G>T p.Glu467* Nonsense 9/16 -
5-112170691-C-G APC c.1787C>G p.Ser596* Nonsense 15/16 -
5-112173283-T-TA APC c.1992_1993insA p.Leu665Ilefs*9 Frameshift 16/16 -
17-41258474-T-C BRCA1 c.211A>G p.Arg71Gly Missense 4/23 -
13-32914438-GT-G BRCA2 c.5946delT p.Ser1982Argfs*22 Frameshift 11/27 -
5-112151261-C-T APC c.904C>T p.Arg302* Nonsense 9/16 -
2-47637396-GAA-G MSH2 c.530_531delAA p.Glu177Valfs*3 Frameshift 3/16 -
17-41244518-CAG-C BRCA1 c.3029_3030delCT p.Pro1010Argfs*7 Frameshift 10/23 -
2-47630517-GG-G MSH2 c.187delG p.Val63*fs*1 Frameshift 1/16 -
2-47630506-A-AA MSH2 c.175_175dup p.Thr60Aspfs*22 Frameshift 1/16 -
13-32911658-C-T BRCA2 c.3166C>T p.Gln1056* Nonsense 11/27 -
2-47702256-TCCA-T MSH2 c.1852_1854delCCA p.Pro618delPro InFrameDeletion 12/16 -
13-32953951-C-A BRCA2 c.9018C>A p.Tyr3006* Nonsense 23/27 -
17-41244864-TT-T BRCA1 c.2686delA p.Ser896Valfs*104 Frameshift 10/23 -
5-112164608-A-AA APC c.1682_1682dupA p.Thr562Aspfs*19 Frameshift 14/16 -
13-32911220-C-T BRCA2 c.2728C>T p.His910Tyr Missense 11/27 -
13-32913103-A-AG BRCA2 c.4611_4612insG p.Ser1538Valfs*10 Frameshift 11/27 -
13-32905103-ATGAT-A BRCA2 c.729_732delTGAT p.Asn243Lysfs*7 Frameshift 9/27 -
2-47690230-G-T MSH2 c.1447G>T p.Glu483* Nonsense 9/16 -
5-112174475-C-T APC c.3184C>T p.Gln1062* Nonsense 16/16 -
5-112175978-C-CC APC c.4687_4687dup p.Leu1563Profs*4 Frameshift 16/16 -
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 -
5-112174341-AATGA-A APC c.3050_3053delATGA p.Asn1017Metfs*4 Frameshift 16/16 -
17-41245594-TT-T BRCA1 c.1961delA p.Lys654Serfs*47 Frameshift 10/23 -
13-32913381-C-G BRCA2 c.4889C>G p.Ser1630* Nonsense 11/27 -
17-41226420-C-A BRCA1 c.4603G>T p.Glu1535* Nonsense 14/23 -
2-47702298-AA-A MSH2 c.1894delA p.Ile632Leufs*3 Frameshift 12/16 -
17-41243789-A-AA BRCA1 c.3759_3759dupT p.Lys1254*fs*1 Nonsense 10/23 -
3-37070324-C-T MLH1 c.1459C>T p.Arg487* Nonsense 13/19 -
13-32911322-A-T BRCA2 c.2830A>T p.Lys944* Nonsense 11/27 -
2-47690240-AATGA-A MSH2 c.1457_1460delATGA p.Asn486Thrfs*10 Frameshift 9/16 -
13-32912603-C-T BRCA2 c.4111C>T p.Gln1371* Nonsense 11/27 -
2-47630511-C-T MSH2 c.181C>T p.Gln61* Nonsense 1/16 -
17-41245255-TCT-T BRCA1 c.2296_2297delAG p.Ser766*fs*1 Frameshift 10/23 -
13-32913234-A-ATG BRCA2 c.4742_4743insTG p.Glu1581Aspfs*37 Frameshift 11/27 -
13-32912172-CTG-C BRCA2 c.3680_3681delTG p.Leu1227Glnfs*5 Frameshift 11/27 -
2-47637254-TCA-T MSH2 c.388_389delCA p.Gln130Valfs*2 Frameshift 3/16 -
5-112102074-TT-T APC c.187delT p.Ser63Leufs*7 Frameshift 3/16 -
5-112175211-T-A APC c.3920T>A p.Ile1307Lys Missense 16/16 -
5-112173601-CA-C APC c.2310delA p.Glu771Lysfs*6 Frameshift 16/16 -
2-47703652-C-T MSH2 c.2152C>T p.Gln718* Nonsense 13/16 -
2-47630496-G-T MSH2 c.166G>T p.Glu56* Nonsense 1/16 -
2-47693806-CC-C MSH2 c.1520delC p.Pro507Leufs*19 Frameshift 10/16 -
17-41243482-TGATT-T BRCA1 c.4065_4068delTCAA p.Asn1355Lysfs*10 Frameshift 10/23 -
13-32911681-AGTCA-A BRCA2 c.3189_3192delGTCA p.Ser1064Leufs*12 Frameshift 11/27 -
13-32937407-TGT-T BRCA2 c.8068_8069delGT p.Val2690Phefs*2 Frameshift 18/27 -
13-32893408-TCT-T BRCA2 c.262_263delCT p.Leu88Alafs*12 Frameshift 3/27 -
17-41219669-AGTTA-A BRCA1 c.5030_5033delCTAA p.Thr1677Ilefs*2 Frameshift 16/23 -
5-112175094-CCAATATGTTTTTC-C APC c.3803_3815del13 p.Pro1268Glnfs*16 Frameshift 16/16 -
13-32912119-A-AA BRCA2 c.3627dupA p.Asp1210Argfs*2 Frameshift 11/27 -
2-47639573-TT-T MSH2 c.666delT p.Leu223*fs*1 Frameshift 4/16 -
5-112164616-C-T APC c.1690C>T p.Arg564* Nonsense 14/16 -
17-41246566-CAT-C BRCA1 c.981_982delAT p.Cys328*fs*1 Frameshift 10/23 -
13-32968879-AAA-A BRCA2 c.9310_9311delAA p.Lys3104Valfs*6 Frameshift 25/27 -
2-47630485-CTGGC-C MSH2 c.155_158delTGGC p.Leu52Profs*11 Frameshift 1/16 -
5-112174129-CAT-C APC c.2838_2839delAT p.Cys947Phefs*15 Frameshift 16/16 -
2-47702295-A-AA MSH2 c.1890_1890dup p.Arg631Lysfs*13 Frameshift 12/16 -
17-41244980-A-C BRCA1 c.2568T>G p.Tyr856* Nonsense 10/23 -
17-41244980-A-T BRCA1 c.2568T>A p.Tyr856* Nonsense 10/23 -
2-47657053-TG-T MSH2 c.1249delG p.Val417Leufs*21 Frameshift 7/16 -
5-112151204-C-T APC c.847C>T p.Arg283* Nonsense 9/16 -
3-37038148-AAAGA-A MLH1 c.155_158delAAGA p.Lys52Argfs*4 Frameshift 2/19 -
5-112162808-GG-G APC c.1412delG p.Gly471Aspfs*27 Frameshift 12/16 -
13-32914767-CTT-C BRCA2 c.6275_6276delTT p.Leu2092Profs*7 Frameshift 11/27 -
13-32906925-AAAGA-A BRCA2 c.1310_1313delAAGA p.Lys437Ilefs*22 Frameshift 10/27 -
3-37090086-C-T MLH1 c.1975C>T p.Arg659* Nonsense 17/19 -
5-112175212-TAAAA-T APC c.3921_3924delAAAA p.Ile1307Metfs*13 Frameshift 16/16 -
13-32890663-CAG-C BRCA2 c.66_67delAG - SpliceDonorDeletion 2/27 -
2-47639668-AA-A MSH2 c.761delA p.Asn254Ilefs*20 Frameshift 4/16 -
2-47637462-TG-T MSH2 c.596delG p.Cys199Leufs*15 Frameshift 3/16 -
13-32968855-G-T BRCA2 c.9286G>T p.Glu3096* Nonsense 25/27 -
2-47639598-TG-T MSH2 c.691delG p.Asp231Thrfs*15 Frameshift 4/16 -
13-32914978-AACAA-A BRCA2 c.6486_6489delACAA p.Lys2162Asnfs*5 Frameshift 11/27 -
2-47637248-TC-T MSH2 c.382delC p.Leu128Serfs*46 Frameshift 3/16 -
17-41243689-TCACT-T BRCA1 c.3858_3861delTGAG p.Ser1286Argfs*20 Frameshift 10/23 -
17-41243731-G-A BRCA1 c.3817C>T p.Gln1273* Nonsense 10/23 -
17-41244145-G-A BRCA1 c.3403C>T p.Gln1135* Nonsense 10/23 -
5-112175000-ACA-A APC c.3709_3710delCA p.Gln1237Glufs*2 Frameshift 16/16 -
3-37090446-G-A MLH1 c.2041G>A p.Ala681Thr Missense 18/19 -
13-32899266-AA-A BRCA2 c.370delA p.Met124Trpfs*12 Frameshift 4/27 -
17-41245588-T-A BRCA1 c.1960A>T p.Lys654* Nonsense 10/23 -
13-32914214-TCT-T BRCA2 c.5722_5723delCT p.Leu1908Argfs*2 Frameshift 11/27 -
2-47657028-T-G MSH2 c.1224T>G p.Tyr408* Nonsense 7/16 -
17-41251872-GAG-G BRCA1 c.470_471delCT p.Ser157*fs*1 Frameshift 7/23 -
17-41243779-TCT-T BRCA1 c.3770_3771delAG p.Glu1257Glyfs*9 Frameshift 10/23 -
17-41244684-G-T BRCA1 c.2864C>A p.Ser955* Nonsense 10/23 -
13-32911056-ACA-A BRCA2 c.2564_2565delCA p.Thr855Lysfs*25 Frameshift 11/27 -
5-112137048-G-T APC c.802G>T p.Glu268* Nonsense 8/16 -
5-112175684-GAG-G APC c.4393_4394delAG p.Ser1465Trpfs*3 Frameshift 16/16 -
2-47698147-AGA-A MSH2 c.1705_1706delGA p.Glu569Ilefs*2 Frameshift 11/16 -
3-37038192-G-A MLH1 c.199G>A p.Gly67Arg Missense 2/19 -
13-32911720-TAG-T BRCA2 c.3228_3229delAG p.Val1077Cysfs*3 Frameshift 11/27 -
2-47703546-CTG-C MSH2 c.2046_2047delTG p.Val684Aspfs*14 Frameshift 13/16 -
3-37038168-A-AA MLH1 c.175_175dup p.Ile59Asnfs*20 Frameshift 2/19 -
17-41228614-T-A BRCA1 c.4375A>T p.Lys1459* Nonsense 13/23 -
3-37090449-TAT-T MLH1 c.2044_2045delAT p.Met682Valfs*11 Frameshift 18/19 -
17-41245861-G-A BRCA1 c.1687C>T p.Gln563* Nonsense 10/23 -
17-41226471-G-A BRCA1 c.4552C>T p.Gln1518* Nonsense 14/23 -
5-112175303-C-T APC c.4012C>T p.Gln1338* Nonsense 16/16 -
13-32913615-C-A BRCA2 c.5123C>A p.Ala1708Glu Missense 11/27 -
5-112175388-C-CC APC c.4097_4097dupC p.Gln1367Serfs*8 Frameshift 16/16 -
17-41256153-C-A BRCA1 c.427G>T p.Glu143* Nonsense 6/23 -
13-32913638-GTATG-G BRCA2 c.5146_5149delTATG p.Tyr1716Lysfs*8 Frameshift 11/27 -
17-41243967-GG-G BRCA1 c.3583delC p.His1195Ilefs*15 Frameshift 10/23 -
13-32914516-G-GG BRCA2 c.6024_6024dupG p.Gln2009Alafs*9 Frameshift 11/27 -
5-112173704-C-T APC c.2413C>T p.Arg805* Nonsense 16/16 -
13-32912192-TCTGCA-T BRCA2 c.3700_3704delCTGCA p.Leu1234Lysfs*7 Frameshift 11/27 -
13-32911662-AAGAAA-A BRCA2 c.3170_3174delAGAAA p.Lys1057Thrfs*8 Frameshift 11/27 -
7-6026542-CCAG-C PMS2 c.1852_1854delCTG p.Leu618delLeu InFrameDeletion 11/15 -
17-41243941-G-A BRCA1 c.3607C>T p.Arg1203* Nonsense 10/23 -
5-112170777-C-T APC c.1873C>T p.Gln625* Nonsense 15/16 -
5-112177117-ACAGA-A APC c.5826_5829delCAGA p.Asp1942Glufs*27 Frameshift 16/16 -
5-112175551-CCA-C APC c.4260_4261delCA p.Ser1421*fs*1 Frameshift 16/16 -
2-47635660-C-T MSH2 c.332C>T p.Ala111Val Missense 2/16 -
13-32914897-ACTTAA-A BRCA2 c.6405_6409delCTTAA p.Asn2135Lysfs*3 Frameshift 11/27 -
2-47643527-G-A MSH2 c.1035G>A p.Trp345* Nonsense 6/16 -
5-112174515-A-AA APC c.3224_3224dupA p.Tyr1075*fs*1 Nonsense 16/16 -
17-41242987-GAG-G BRCA1 c.4161_4162delTC p.Gln1388Glufs*2 Frameshift 11/23 -
3-37067365-C-T MLH1 c.1276C>T p.Gln426* Nonsense 12/19 -
13-32914529-A-T BRCA2 c.6037A>T p.Lys2013* Nonsense 11/27 -
2-47698109-TT-T MSH2 c.1667delT p.Leu556*fs*1 Frameshift 11/16 -
17-41215370-TCTTT-T BRCA1 c.5177_5180delGAAA p.Arg1726Lysfs*3 Frameshift 18/23 -
5-112174272-TTTTGCAGTTAT-T APC c.2981_2991del11 p.Phe994Trpfs*10 Frameshift 16/16 -
2-47690205-TT-T MSH2 c.1422delT p.Phe474Leufs*8 Frameshift 9/16 -
2-47641520-T-A MSH2 c.905T>A p.Leu302* Nonsense 5/16 -
5-112116592-C-T APC c.637C>T p.Arg213* Nonsense 6/16 -
13-32932018-G-A BRCA2 c.7757G>A p.Trp2586* Nonsense 16/27 -
3-37055976-G-A MLH1 c.731G>A p.Gly244Asp Missense 9/19 -
17-41246412-AATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTCTCTGA-A BRCA1 c.1086_1141del56 p.Asn363Serfs*2 Frameshift 10/23 -
17-41234451-G-A BRCA1 c.4327C>T p.Arg1443* Nonsense 12/23 -
5-112174268-A-T APC c.2977A>T p.Lys993* Nonsense 16/16 -
5-112175218-AAAAGA-A APC c.3927_3931delAAAGA p.Glu1309Aspfs*4 Frameshift 16/16 -
17-41246043-TAATT-T BRCA1 c.1504_1507delTTAA p.Leu502Serfs*29 Frameshift 10/23 -
17-41246538-T-TT BRCA1 c.1016_1016dup p.Val340Glyfs*6 Frameshift 10/23 -
13-32912414-G-T BRCA2 c.3922G>T p.Glu1308* Nonsense 11/27 -
3-37053578-AA-A MLH1 c.665delA p.Asn222Metfs*7 Frameshift 8/19 -
13-32912339-TGT-T BRCA2 c.3847_3848delGT p.Val1283Lysfs*2 Frameshift 11/27 -
17-41245595-TCTTT-T BRCA1 c.1953_1956delGAAA p.Lys653Serfs*47 Frameshift 10/23 -
13-32910454-AA-A BRCA2 c.1962delA p.Glu654Aspfs*6 Frameshift 11/27 -
17-41243921-T-TT BRCA1 c.3627dupA p.Glu1210Argfs*9 Frameshift 10/23 -
13-32913803-TGGTATTGAGCCAGTATTGAAGAA-T BRCA2 c.5311_5333del23 p.Gly1771Cysfs*2 Frameshift 11/27 -
13-32910868-C-A BRCA2 c.2376C>A p.Tyr792* Nonsense 11/27 -
17-41244188-TAA-T BRCA1 c.3359_3360delTT p.Val1120Glufs*12 Frameshift 10/23 -
2-47690227-A-T MSH2 c.1444A>T p.Arg482* Nonsense 9/16 -
3-37089143-T-A MLH1 c.1865T>A p.Leu622His Missense 16/19 -
17-41258496-T-TT BRCA1 c.189_189dup p.Cys64Metfs*2 Frameshift 4/23 -
17-41244857-T-TT BRCA1 c.2694_2694dupA p.Val899Serfs*4 Frameshift 10/23 -
2-47703631-C-T MSH2 c.2131C>T p.Arg711* Nonsense 13/16 -
13-32911300-AACAA-A BRCA2 c.2808_2811delACAA p.Ala938Profs*21 Frameshift 11/27 -
3-37045935-C-T MLH1 c.350C>T p.Thr117Met Missense 4/19 -
13-32907411-CT-AA BRCA2 c.1796_1797delCTinsAA p.Ser599* Nonsense 10/27 -
13-32930609-C-T BRCA2 c.7480C>T p.Arg2494* Nonsense 15/27 -
13-32893291-G-T BRCA2 c.145G>T p.Glu49* Nonsense 3/27 -
17-41219665-GATTAG-G BRCA1 c.5035_5039delCTAAT p.Leu1679Tyrfs*2 Frameshift 16/23 -
13-32953959-TATCAT-T BRCA2 c.9026_9030delATCAT p.Tyr3009Serfs*7 Frameshift 23/27 -
13-32906631-A-AA BRCA2 c.1016_1016dupA p.Asp339Glufs*2 Frameshift 10/27 -
5-112136976-GAG-G APC c.730_731delAG - SpliceAcceptorDeletion 8/16 -
2-47641512-T-G MSH2 c.897T>G p.Tyr299* Nonsense 5/16 -
13-32906701-ATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTG-A BRCA2 c.1086_1141del56 p.Asp362Glufs*14 Frameshift 10/27 -
2-47641512-T-A MSH2 c.897T>A p.Tyr299* Nonsense 5/16 -
13-32915148-C-G BRCA2 c.6656C>G p.Ser2219* Nonsense 11/27 -
13-32944584-G-A BRCA2 c.8377G>A p.Gly2793Arg Missense 19/27 -
2-47657028-T-A MSH2 c.1224T>A p.Tyr408* Nonsense 7/16 -
2-47657059-C-T MSH2 c.1255C>T p.Gln419* Nonsense 7/16 -
17-41243479-TCTTG-T BRCA1 c.4066_4069delCAAG p.Gln1356Lysfs*9 Frameshift 10/23 -
13-32912251-A-AA BRCA2 c.3759_3759dup p.Glu1254Argfs*11 Frameshift 11/27 -
5-112128204-CA-C APC c.707delA p.Gln236Argfs*57 Frameshift 7/16 -
5-112175171-ACA-A APC c.3880_3881delCA p.Gln1294Glyfs*6 Frameshift 16/16 -
2-47690240-AA-A MSH2 c.1457delA p.Asn486Metfs*11 Frameshift 9/16 -
5-112174474-AACAAA-A APC c.3183_3187delACAAA p.Gln1062*fs*1 Frameshift 16/16 -
5-112173787-CC-C APC c.2496delC p.Ser833Alafs*9 Frameshift 16/16 -
17-41243950-G-A BRCA1 c.3598C>T p.Gln1200* Nonsense 10/23 -
5-112111350-C-CC APC c.447_447dupC p.Lys150Glnfs*18 Frameshift 5/16 -
13-32907120-AAAAA-A BRCA2 c.1505_1508delAAAA p.Lys502Serfs*6 Frameshift 10/27 -
13-32893336-A-AA BRCA2 c.189_189dup p.Thr64Asnfs*9 Frameshift 3/27 -