PMID: 26863566

The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.

Oncotarget
R Pinto, S De Summa, S Strippoli, B Pilato, A Azzariti, G Guida, M Guida, S Tommasi
2016-05-03

211 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-89690841-G-A PTEN c.248G>A p.Cys83Tyr Missense 4/9 -
16-89985669-G-A MC1R c.3G>A p.Met1Ile Missense 1/1 -
2-204732724-G-T CTLA4 c.59G>T p.Trp20Leu Missense 1/4 -
3-178928276-G-A PIK3CA c.1462G>A p.Asp488Asn Missense 9/21 -
13-48934182-G-T RB1 c.637G>T p.Val213Leu Missense 7/27 -
13-48953759-C-T RB1 c.1362C>T p.Tyr454Tyr Synonymous 14/27 -
12-58145290-C-T CDK4 c.211G>A p.Val71Ile Missense 2/8 -
10-89711904-T-C PTEN c.522T>C p.Tyr174Tyr Synonymous 6/9 -
16-89985918-C-T MC1R c.252C>T p.Asp84Asp Synonymous 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
3-178917579-G-A PIK3CA c.454G>A p.Asp152Asn Missense 3/21 -
4-55573379-G-A KIT c.1041G>A p.Gln347Gln Synonymous 6/21 -
3-178951932-A-G PIK3CA c.2987A>G p.Asn996Ser Missense 21/21 -
4-55593651-C-T KIT c.1717C>T p.Pro573Ser Missense 11/21 -
3-178943815-G-A PIK3CA c.2482G>A p.Gly828Ser Missense 17/21 -
13-48916798-C-T RB1 c.328C>T p.Leu110Leu Synonymous 3/27 -
7-140500272-A-T BRAF c.870T>A p.Phe290Leu Missense 7/18 -
16-89986131-C-T MC1R c.465C>T p.Ile155Ile Synonymous 1/1 -
16-89985980-C-T MC1R c.314C>T p.Ala105Val Missense 1/1 -
13-49050909-G-A RB1 c.2593G>A p.Gly865Arg Missense 25/27 -
13-49050909-G-C RB1 c.2593G>C p.Gly865Arg Missense 25/27 -
3-69988274-A-T MITF c.608A>T p.Asn203Ile Missense 4/10 -
4-55564728-C-A KIT c.616C>A p.Pro206Thr Missense 3/21 -
7-140549918-T-C BRAF c.233A>G p.Tyr78Cys Missense 2/18 -
16-89986260-T-C MC1R c.594T>C p.Ala198Ala Synonymous 1/1 -
4-55597561-G-A KIT c.2209G>A p.Asp737Asn Missense 15/21 -
4-55573361-C-A KIT c.1023C>A p.Pro341Pro Synonymous 6/21 -
2-204737476-C-T CTLA4 c.613C>T p.Pro205Ser Missense 4/4 -
3-69928361-C-A MITF c.181C>A p.Gln61Lys Missense 2/10 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
3-178947118-C-T PIK3CA c.2554C>T p.Arg852* Nonsense 18/21 -
10-89692988-G-A PTEN c.472G>A p.Val158Ile Missense 5/9 -
12-58144748-G-A CDK4 c.480C>T p.Gly160Gly Synonymous 4/8 -
13-48919330-G-A RB1 c.495G>A p.Leu165Leu Synonymous 4/27 -
7-140624391-G-T BRAF c.113C>A p.Ala38Asp Missense 1/18 -
7-140476858-G-A BRAF c.1548C>T p.Phe516Phe Synonymous 13/18 -
7-140453096-C-T BRAF c.1839G>A p.Leu613Leu Synonymous 15/18 -
10-89725066-C-T PTEN c.1049C>T p.Thr350Ile Missense 9/9 -
13-49030440-C-T RB1 c.1915C>T p.Gln639* Nonsense 19/27 -
4-55592168-G-A KIT c.1492G>A p.Gly498Ser Missense 9/21 -
16-89986270-C-T MC1R c.604C>T p.Leu202Phe Missense 1/1 -
3-178938842-G-A PIK3CA c.2084G>A p.Cys695Tyr Missense 14/21 -
7-140494208-C-T BRAF c.1040G>A p.Arg347Gln Missense 8/18 -
13-48955551-G-T RB1 c.1667G>T p.Arg556Leu Missense 17/27 -
4-55602673-C-T KIT c.2494C>T p.Pro832Ser Missense 18/21 -
16-89986089-C-T MC1R c.423C>T p.Asp141Asp Synonymous 1/1 -
16-89985793-G-A MC1R c.127G>A p.Gly43Arg Missense 1/1 -
3-178947170-C-T PIK3CA c.2606C>T p.Ala869Val Missense 18/21 -
10-89692998-G-A PTEN c.482G>A p.Arg161Lys Missense 5/9 -
13-49051522-C-A RB1 c.2695C>A p.Gln899Lys Missense 26/27 -
16-89985858-C-T MC1R c.192C>T p.Ala64Ala Synonymous 1/1 -
10-131565170-A-G MGMT c.533A>G - missense_variant 5/5 -
7-140494225-TG-AT BRAF c.1022_1023delCAinsAT p.Pro341His Missense 8/18 -
13-48954333-C-T RB1 c.1454C>T p.Ser485Phe Missense 16/27 -
3-178938812-G-A PIK3CA c.2054G>A p.Gly685Asp Missense 14/21 -
7-140453114-G-A BRAF c.1821C>T p.Ser607Ser Synonymous 15/18 -
7-140500272-A-C BRAF c.870T>G p.Phe290Leu Missense 7/18 -
4-55573403-C-T KIT c.1065C>T p.Phe355Phe Synonymous 6/21 -
13-48947566-T-C RB1 c.1153T>C p.Leu385Leu Synonymous 12/27 -
7-140494136-A-G BRAF c.1112T>C p.Ile371Thr Missense 8/18 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
7-140500184-C-T BRAF c.958G>A p.Ala320Thr Missense 7/18 -
13-48881447-T-A RB1 c.169T>A p.Phe57Ile Missense 2/27 -
10-89711895-G-A PTEN c.513G>A p.Gln171Gln Synonymous 6/9 -
7-140500274-A-G BRAF c.868T>C p.Phe290Leu Missense 7/18 -
7-140453079-C-A BRAF c.1856G>T p.Trp619Leu Missense 15/18 -
4-55598158-C-T KIT c.2355C>T p.Ser785Ser Synonymous 16/21 -
13-48953786-A-G RB1 c.1389A>G p.Ser463Ser Synonymous 14/27 -
13-48878063-C-T RB1 c.15C>T p.Thr5Thr Synonymous 1/27 -
7-140454015-TG-TT BRAF c.1712_1713delCAinsTT p.Ser571Phe Missense 14/18 -
13-48881495-A-G RB1 c.217A>G p.Arg73Gly Missense 2/27 -
4-55593459-T-G KIT c.1616T>G p.Ile539Ser Missense 10/21 -
4-55564641-C-T KIT c.529C>T p.Arg177Cys Missense 3/21 -
4-55592167-G-A KIT c.1491G>A p.Val497Val Synonymous 9/21 -
3-178928287-G-A PIK3CA c.1473G>A p.Val491Val Synonymous 9/21 -
4-55561935-GTG-ATC KIT c.325_327delGTGinsATC p.Val109Ile Missense 2/21 -
12-58144734-T-C CDK4 c.494A>G p.Tyr165Cys Missense 4/8 -
13-49054185-C-A RB1 c.2765C>A p.Thr922Asn Missense 27/27 -
10-89711997-G-C PTEN c.615G>C p.Met205Ile Missense 6/9 -
13-48916771-A-G RB1 c.301A>G p.Ile101Val Missense 3/27 -
10-131565106-A-T MGMT c.562A>T p.Asn188Tyr Missense 5/5 -
4-55602765-G-C KIT c.2586G>C p.Leu862Leu Synonymous 18/21 -
10-89711997-G-A PTEN c.615G>A p.Met205Ile Missense 6/9 -
13-49054177-C-T RB1 c.2757C>T p.Ser919Ser Synonymous 27/27 -
4-55594010-C-A KIT c.1796C>A p.Ala599Asp Missense 12/21 -
3-69990455-G-C MITF c.735G>C p.Met245Ile Missense 5/10 -
16-89985963-C-T MC1R c.297C>T p.Leu99Leu Synonymous 1/1 -
4-55602689-C-T KIT c.2510C>T p.Ala837Val Missense 18/21 -
7-140494205-G-A BRAF c.1043C>T p.Pro348Leu Missense 8/18 -
16-89985715-A-G MC1R c.49A>G p.Thr17Ala Missense 1/1 -
4-55593464-A-T KIT c.1621A>T p.Met541Leu Missense 10/21 -
4-55561850-T-A KIT c.240T>A p.Asn80Lys Missense 2/21 -
4-55561850-T-G KIT c.240T>G p.Asn80Lys Missense 2/21 -
3-178928045-G-T PIK3CA c.1323G>T p.Met441Ile Missense 8/21 -
4-55598078-G-A KIT c.2275G>A p.Asp759Asn Missense 16/21 -
16-89986224-G-A MC1R c.558G>A p.Val186Val Synonymous 1/1 -
4-55592148-G-A KIT c.1472G>A p.Cys491Tyr Missense 9/21 -
16-89985870-C-A MC1R c.204C>A p.Asn68Lys Missense 1/1 -
16-89985870-C-G MC1R c.204C>G p.Asn68Lys Missense 1/1 -
3-178938846-G-A PIK3CA c.2088G>A p.Gly696Gly Synonymous 14/21 -
3-178952017-G-A PIK3CA c.3072G>A p.Lys1024Lys Synonymous 21/21 -
3-178928045-G-A PIK3CA c.1323G>A p.Met441Ile Missense 8/21 -
3-178928045-G-C PIK3CA c.1323G>C p.Met441Ile Missense 8/21 -
3-178927429-C-A PIK3CA c.1192C>A p.Arg398Ser Missense 7/21 -
3-69928362-A-G MITF c.182A>G p.Gln61Arg Missense 2/10 -
13-49030454-A-G RB1 c.1929A>G p.Lys643Lys Synonymous 19/27 -
16-89986251-C-G MC1R c.585C>G p.Phe195Leu Missense 1/1 -
3-69928362-A-T MITF c.182A>T p.Gln61Leu Missense 2/10 -
3-178948083-T-G PIK3CA c.2855T>G p.Val952Gly Missense 20/21 -
3-178916623-C-T PIK3CA c.10C>T p.Arg4* Nonsense 2/21 -
4-55599268-C-T KIT c.2394C>T p.Ile798Ile Synonymous 17/21 -
13-49030408-C-G RB1 c.1883C>G p.Ala628Gly Missense 19/27 -
10-131557469-C-T MGMT c.371C>T p.Ser124Leu Missense 4/5 -
10-89725116-C-T PTEN c.1099C>T p.Pro367Ser Missense 9/9 -
3-70014253-T-G MITF c.1417T>G p.Ser473Ala Missense 10/10 -
13-49050866-G-A RB1 c.2550G>A p.Gln850Gln Synonymous 25/27 -
7-140534584-G-A BRAF c.329C>T p.Ser110Phe Missense 3/18 -
13-49039177-T-C RB1 c.2255T>C p.Ile752Thr Missense 22/27 -
4-55598096-G-A KIT c.2293G>A p.Asp765Asn Missense 16/21 -
10-89720832-C-A PTEN c.983C>A p.Ala328Glu Missense 8/9 -
4-55599276-C-T KIT c.2402C>T p.Thr801Ile Missense 17/21 -
16-89986000-G-A MC1R c.334G>A p.Val112Met Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
12-58145081-T-G CDK4 c.263A>C p.Lys88Thr Missense 3/8 -
7-140477796-T-C BRAF c.1512A>G p.Val504Val Synonymous 12/18 -
10-131506286-C-T MGMT c.346C>T p.His116Tyr Missense 3/5 -
7-140549916-G-A BRAF c.235C>T p.Leu79Leu Synonymous 2/18 -
7-140434438-G-A BRAF c.2260C>T p.Pro754Ser Missense 18/18 -
16-89986482-G-A MC1R c.816G>A p.Thr272Thr Synonymous 1/1 -
7-140482876-G-A BRAF c.1259C>T p.Pro420Leu Missense 10/18 -
3-178927410-A-G PIK3CA c.1173A>G p.Ile391Met Missense 7/21 -
7-140494213-G-T BRAF c.1035C>A p.Pro345Pro Synonymous 8/18 -
13-48942674-A-G RB1 c.1061A>G p.Gln354Arg Missense 11/27 -
10-131506283-C-T MGMT c.343C>T p.Leu115Phe Missense 3/5 -
13-49039146-GTT-ATG RB1 c.2224_2226delGTTinsATG p.Val742Met Missense 22/27 -
13-48941632-T-C RB1 c.942T>C p.Val314Val Synonymous 10/27 -
4-55575646-C-T KIT c.1172C>T p.Thr391Ile Missense 7/21 -
3-178937483-C-T PIK3CA c.1871C>T p.Thr624Ile Missense 12/21 -
10-89653803-C-T PTEN c.101C>T p.Ala34Val Missense 2/9 -
10-89720795-C-T PTEN c.946C>T p.Leu316Leu Synonymous 8/9 -
12-58145457-C-T CDK4 c.44G>A p.Gly15Asp Missense 2/8 -
7-140534660-A-T BRAF c.253T>A p.Tyr85Asn Missense 3/18 -
16-89986251-C-A MC1R c.585C>A p.Phe195Leu Missense 1/1 -
16-89985849-C-A MC1R c.183C>A p.Ala61Ala Synonymous 1/1 -
10-89720772-G-A PTEN c.923G>A p.Arg308His Missense 8/9 -
13-48953761-G-A RB1 c.1364G>A p.Arg455Gln Missense 14/27 -
10-89725048-A-G PTEN c.1031A>G p.Lys344Arg Missense 9/9 -
7-140534659-T-C BRAF c.254A>G p.Tyr85Cys Missense 3/18 -
3-70014240-C-A MITF c.1404C>A p.Pro468Pro Synonymous 10/10 -
16-89986147-G-A MC1R c.481G>A p.Ala161Thr Missense 1/1 -
3-178928318-C-A PIK3CA c.1504C>A p.Arg502Arg Synonymous 9/21 -
12-58144530-G-T CDK4 c.541C>A p.Arg181Arg Synonymous 5/8 -
4-55599277-T-C KIT c.2403T>C p.Thr801Thr Synonymous 17/21 -
3-70001019-A-G MITF c.919A>G p.Lys307Glu Missense 7/10 -
7-140494223-A-G BRAF c.1025T>C p.Ile342Thr Missense 8/18 -
10-89711898-G-A PTEN c.516G>A p.Arg172Arg Synonymous 6/9 -
3-178927993-G-A PIK3CA c.1271G>A p.Trp424* Nonsense 8/21 -
4-55598045-A-T KIT c.2242A>T p.Ile748Leu Missense 16/21 -
4-55598045-A-C KIT c.2242A>C p.Ile748Leu Missense 16/21 -
13-48951093-G-A RB1 c.1255G>A p.Val419Met Missense 13/27 -
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
13-49033825-G-A RB1 c.1962G>A p.Val654Val Synonymous 20/27 -
16-89986134-G-T MC1R c.468G>T p.Val156Val Synonymous 1/1 -
7-140534456-G-C BRAF c.457C>G p.Gln153Glu Missense 3/18 -
3-69990455-G-A MITF c.735G>A p.Met245Ile Missense 5/10 -
3-69990455-G-T MITF c.735G>T p.Met245Ile Missense 5/10 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
7-140500199-C-A BRAF c.943G>T p.Gly315* Nonsense 7/18 -
13-48916739-G-A RB1 c.269G>A p.Gly90Asp Missense 3/27 -
4-55593463-G-A KIT c.1620G>A p.Val540Val Synonymous 10/21 -
10-89720738-G-A PTEN c.889G>A p.Asp297Asn Missense 8/9 -
16-89986249-T-C MC1R c.583T>C p.Phe195Leu Missense 1/1 -
13-49030459-C-T RB1 c.1934C>T p.Thr645Ile Missense 19/27 -
3-178921458-G-A PIK3CA c.940G>A p.Ala314Thr Missense 5/21 -
10-89624231-C-T PTEN c.5C>T p.Thr2Ile Missense 1/9 -
1-115252227-C-T NRAS c.413G>A p.Gly138Glu Missense 4/7 -
4-55594251-A-G KIT c.1954A>G p.Asn652Asp Missense 13/21 -
13-49039169-T-C RB1 c.2247T>C p.Tyr749Tyr Synonymous 22/27 -
4-55565807-G-A KIT c.631G>A p.Val211Met Missense 4/21 -
13-49033963-G-A RB1 c.2100G>A p.Leu700Leu Synonymous 20/27 -
3-178916890-C-T PIK3CA c.277C>T p.Arg93Trp Missense 2/21 -
12-58144450-C-T CDK4 c.621G>A p.Met207Ile Missense 5/8 -
3-70014248-T-A MITF c.1412T>A p.Met471Lys Missense 10/10 -
3-178917499-T-C PIK3CA c.374T>C p.Val125Ala Missense 3/21 -
13-48934182-G-C RB1 c.637G>C p.Val213Leu Missense 7/27 -
7-140476799-C-T BRAF c.1607G>A p.Ser536Asn Missense 13/18 -
13-48953760-C-T RB1 c.1363C>T p.Arg455* Nonsense 14/27 -
16-89986467-C-T MC1R c.801C>T p.Cys267Cys Synonymous 1/1 -
4-55603434-G-A KIT c.2790G>A p.Glu930Glu Synonymous 20/21 -
7-140434441-T-A BRAF c.2257A>T p.Thr753Ser Missense 18/18 -
12-58145013-C-G CDK4 c.331G>C p.Gly111Arg Missense 3/8 -
16-89985701-G-A MC1R c.35G>A p.Gly12Asp Missense 1/1 -
10-89725081-C-T PTEN c.1064C>T p.Ser355Leu Missense 9/9 -
13-48923116-A-G RB1 c.564A>G p.Ala188Ala Synonymous 6/27 -
12-58142338-A-G CDK4 c.882T>C p.Tyr294Tyr Synonymous 8/8 -
10-89624237-T-C PTEN c.11T>C p.Ile4Thr Missense 1/9 -
16-89986325-GC-AG MC1R c.659_660delGCinsAG p.Gly220Glu Missense 1/1 -
10-89690843-A-T PTEN c.250A>T p.Arg84* Nonsense 4/9 -
3-178942516-G-A PIK3CA c.2323G>A p.Ala775Thr Missense 16/21 -
10-131565064-A-G MGMT c.520A>G p.Ile174Val Missense 5/5 -
3-178928258-A-G PIK3CA c.1444A>G p.Ser482Gly Missense 9/21 -
13-48878128-C-T RB1 c.80C>T p.Pro27Leu Missense 1/27 -
13-49054199-G-A RB1 c.2779G>A p.Glu927Lys Missense 27/27 -
7-140534627-C-T BRAF c.286G>A p.Glu96Lys Missense 3/18 -
13-48941719-T-A RB1 c.1029T>A p.Leu343Leu Synonymous 10/27 -
7-140449093-C-T BRAF c.1986G>A p.Arg662Arg Synonymous 16/18 -
7-140494122-G-A BRAF c.1126C>T p.Pro376Ser Missense 8/18 -
13-48919324-C-T RB1 c.489C>T p.Ser163Ser Synonymous 4/27 -
3-69987019-C-A MITF c.401C>A p.Ala134Asp Missense 3/10 -
10-89711997-G-T PTEN c.615G>T p.Met205Ile Missense 6/9 -
16-89986153-C-T MC1R c.487C>T p.Arg163* Nonsense 1/1 -