PMID: 28726808

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history.

Genetics in medicine : official journal of the American College of Medical Genetics
KG Chaffee, AL Oberg, RR McWilliams, N Majithia, BA Allen, J Kidd, N Singh, AR Hartman, RJ Wenstrup, GM Petersen
2018-01

93 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-112173729-A-G APC c.2438A>G p.Asn813Ser Missense 16/16 -
9-21974775-T-G CDKN2A c.52A>C p.Thr18Pro Missense 1/3 -
11-108186724-A-G ATM c.6096-14A>G - IntronicSNV - 41/62
1-45798063-C-T MUTYH c.779G>A p.Trp260* Nonsense 9/16 -
22-29130520-C-T CHEK2 c.190G>A p.Glu64Lys Missense 2/16 -
19-1226555-C-T STK11 c.1211C>T p.Ser404Phe Missense 9/10 -
17-33428058-G-A RAD51D c.904-3C>T - IntronicSNV - 9/9
11-108236230-G-T ATM c.9166G>T p.Val3056Leu Missense 63/63 -
13-32972517-TT-T BRCA2 c.9867delT p.Phe3289Leufs*24 Frameshift 27/27 -
11-108121756-AGA-A ATM c.1564_1565delGA p.Glu522Ilefs*43 Frameshift 10/63 -
11-108202604-A-C ATM c.7630-2A>C - IntronicSNV - 51/62
9-21971057-C-A CDKN2A c.301G>T p.Gly101Trp Missense 2/3 -
11-108196837-G-C ATM c.6860G>C p.Gly2287Ala Missense 47/63 -
13-32914214-TCT-T BRCA2 c.5722_5723delCT p.Leu1908Argfs*2 Frameshift 11/27 -
13-32912236-GTGAG-G BRCA2 c.3744_3747delTGAG p.Ser1248Argfs*10 Frameshift 11/27 -
11-108181006-A-G ATM c.5882A>G p.Tyr1961Cys Missense 39/63 -
11-108155009-GG-G ATM c.3802delG p.Val1268*fs*1 Frameshift 26/63 -
11-108124620-GA-G ATM c.1978delA p.Met660Trpfs*4 Frameshift 13/63 -
11-108117810-G-A ATM c.1021G>A p.Val341Ile Missense 8/63 -
13-32906576-C-T BRCA2 c.961C>T p.Gln321* Nonsense 10/27 -
16-23632771-G-A PALB2 c.3025C>T p.Pro1009Ser Missense 10/13 -
2-47690267-C-T MSH2 c.1484C>T p.Thr495Ile Missense 9/16 -
5-112175663-C-T APC c.4372C>T p.Pro1458Ser Missense 16/16 -
2-48027905-C-A MSH6 c.2783C>A p.Thr928Asn Missense 4/10 -
22-29130636-A-G CHEK2 c.74T>C p.Val25Ala Missense 2/16 -
2-47637249-T-G MSH2 c.383T>G p.Leu128Arg Missense 3/16 -
11-108206684-A-AA ATM c.8264_8264dup p.Tyr2755*fs*1 Nonsense 56/63 -
10-88676975-C-T BMPR1A c.760C>T p.Arg254Cys Missense 9/13 -
5-112179673-C-A APC c.8382C>A p.Ser2794Arg Missense 16/16 -
9-21970901-C-A CDKN2A c.457G>T p.Asp153Tyr Missense 2/3 -
11-108202225-G-C ATM c.7570G>C p.Ala2524Pro Missense 51/63 -
7-6013166-A-G PMS2 c.2453T>C p.Ile818Thr Missense 15/15 -
11-108128232-A-G ATM c.2275A>G p.Ser759Gly Missense 15/63 -
11-108236150-G-A ATM c.9086G>A p.Gly3029Asp Missense 63/63 -
2-215657039-G-A BARD1 c.346C>T p.His116Tyr Missense 3/11 -
11-108201023-T-C ATM c.7390T>C p.Cys2464Arg Missense 50/63 -
2-48030601-G-A MSH6 c.3215G>A p.Gly1072Asp Missense 5/10 -
2-215674261-C-A BARD1 c.33G>T p.Gln11His Missense 1/11 -
2-47643538-C-T MSH2 c.1046C>T p.Pro349Leu Missense 6/16 -
17-56787304-G-A RAD51C c.790G>A p.Gly264Ser Missense 5/9 -
16-23641743-T-C PALB2 c.1732A>G p.Ser578Gly Missense 5/13 -
11-108216479-A-C ATM c.8428A>C p.Lys2810Gln Missense 58/63 -
13-32913457-C-G BRCA2 c.4965C>G p.Tyr1655* Nonsense 11/27 -
7-6035211-T-C PMS2 c.857A>G p.Asp286Gly Missense 8/15 -
18-48575235-G-A SMAD4 c.424+5G>A - IntronicSNV - 3/11
17-59885956-G-A BRIP1 c.790C>T p.Arg264Trp Missense 7/20 -
12-58144989-C-T CDK4 c.354+1G>A - IntronicSNV - 3/7
2-48027106-A-G MSH6 c.1984A>G p.Met662Val Missense 4/10 -
13-32907428-A-AA BRCA2 c.1813dupA p.Ile605Asnfs*11 Frameshift 10/27 -
11-108160512-C-G ATM c.4420C>G p.His1474Asp Missense 29/63 -
5-112178936-C-T APC c.7645C>T p.Arg2549Cys Missense 16/16 -
13-32911900-A-AA BRCA2 c.3408dupA p.Leu1137Ilefs*7 Frameshift 11/27 -
2-215645966-A-T BARD1 c.632T>A p.Leu211* Nonsense 4/11 -
11-108122746-C-T ATM c.1790C>T p.Pro597Leu Missense 11/63 -
11-108216546-G-A ATM c.8495G>A p.Arg2832His Missense 58/63 -
17-33434443-C-A RAD51D c.287G>T p.Gly96Val Missense 4/10 -
2-48026980-G-A MSH6 c.1858G>A p.Gly620Ser Missense 4/10 -
2-215657032-T-C BARD1 c.353A>G p.Asn118Ser Missense 3/11 -
17-41197707-G-T BRCA1 c.5580C>A p.His1860Gln Missense 23/23 -
10-88681265-C-G BMPR1A c.1167-12C>G - IntronicSNV - 10/12
2-47710081-C-T MSH2 c.2798C>T p.Thr933Ile Missense 16/16 -
19-1221318-C-A STK11 c.841C>A p.Pro281Thr Missense 6/10 -
13-32914865-A-AA BRCA2 c.6373_6373dup p.Thr2125Asnfs*4 Frameshift 11/27 -
5-112174614-A-G APC c.3323A>G p.Asn1108Ser Missense 16/16 -
11-108138037-C-G ATM c.2606C>G p.Ala869Gly Missense 17/63 -
11-108099921-A-G ATM c.202A>G p.Ile68Val Missense 4/63 -
9-21974780-A-C CDKN2A c.47T>G p.Leu16Arg Missense 1/3 -
3-37053539-A-C MLH1 c.626A>C p.Asn209Thr Missense 8/19 -
5-112179348-T-C APC c.8057T>C p.Val2686Ala Missense 16/16 -
7-6018328-C-T PMS2 c.2175-1G>A - IntronicSNV - 12/14
5-112175753-T-G APC c.4462T>G p.Leu1488Val Missense 16/16 -
12-58144446-G-A CDK4 c.625C>T p.Arg209Cys Missense 5/8 -
17-59821830-C-A BRIP1 c.2220G>T p.Gln740His Missense 15/20 -
2-215610563-G-A BARD1 c.1693C>T p.Arg565Cys Missense 8/11 -
5-112174802-C-T APC c.3511C>T p.Arg1171Cys Missense 16/16 -
11-108115593-T-TT ATM c.741_741dup p.Arg248Serfs*6 Frameshift 7/63 -
11-108202247-T-C ATM c.7592T>C p.Met2531Thr Missense 51/63 -
9-21971029-CC-C CDKN2A c.332delG p.Gly111Alafs*35 Frameshift 2/3 -
12-58143032-G-C CDK4 c.752C>G p.Pro251Arg Missense 7/8 -
16-23637664-C-T PALB2 c.2641G>A p.Gly881Ser Missense 7/13 -
11-108139187-T-A ATM c.2689T>A p.Phe897Ile Missense 18/63 -
7-6045600-C-G PMS2 c.86G>C p.Gly29Ala Missense 2/15 -
17-7577577-T-C TP53 c.704A>G p.Asn235Ser Missense 7/11 -
16-68835667-A-C CDH1 c.258A>C p.Lys86Asn Missense 3/16 -
1-45798591-T-C MUTYH c.494A>G p.Glu165Gly Missense 6/16 -
17-33430511-G-A RAD51D c.629C>T p.Ala210Val Missense 7/10 -
17-56811555-G-A RAD51C c.1103G>A p.Arg368Gln Missense 9/9 -
11-108183151-G-T ATM c.5932G>T p.Glu1978* Nonsense 40/63 -
11-108124738-A-G ATM c.2096A>G p.Glu699Gly Missense 13/63 -
11-108143540-ATC-TGAT ATM c.3245_3247delinsTGAT p.His1082Leufs*14 Frameshift 22/63 -
9-21971073-CC-C CDKN2A c.286delG p.Val96Cysfs*50 Frameshift 2/3 -
11-108196896-C-T ATM c.6919C>T p.Leu2307Phe Missense 47/63 -
11-108235879-C-T ATM c.8921C>T p.Pro2974Leu Missense 62/63 -