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Genes and mutations associated with cancers

If you tested your DNA with a personal genomics service like 23andMe, DeCODEme, FTDNA's Family Finder or another testing company, you can learn more about your risk factors for hundreds of diseases. Many of these SNP's are tested but not (yet) part of the report provided by personal genomics companies. This is free extra information.

We recommend that you install the SNPTips add-on for Mozilla Firefox to browse these pages. It allows you to upload your DNA results in the browser and show instantly which allele variant you have for each of the SNP listed below.

What can DNA tell you about yourself ?

List of cancers with the associated genes and alleles

Risk alleles : Substantially lower risk (over 3x less), moderately lower risk (up to 3x less), normal, slightly higher risk (up to 3x more), greatly increased risk (over 3x more). Normal alleles marked with a * mean that the person is a carrier of the disease. Depending on the testing company, sometimes A is reported as T, and G is reported as C, or vice-versa.

Testing companies :
A = 23andMe
(all versions) ; A2* = 23andMe (v2 only) ; A2 = 23andMe (v2 & v3) ; A3 = 23andMe (v3 only)
B = DeCODEme
C = FTDNA (Family Finder v2)
Bold letters indicate that the SNP is part of the official report, and is therefore likely to be more reliable.
Only SNP's in the official report and those not tested by 23andMe are listed for deCODEme. FTDNA SNP's are only mentioned when they are not tested by 23andMe.

Description Chromosome Gene SNP Risk alleles Tested by*
Cancer (general risk) 3 FHIT
5 CLPTM1L rs2736098 AA, AG, GG A3
rs401681 CC, CT, TT A
6 E2F3
12 MDM2 rs2279744 GG, GT, TT A
19 ZBTB7A
20 AURKA rs2273535 AA, AT, TT A3
Cancer (prevention) B CASP8
Cancer : Bladder A PTGS2 rs5275 CC, CT, TT A
A RUNX3 rs760805 AA, AT, TT A3
3 3q38 rs710521 AA, AG, GG A
3 OGG1 rs1052133 CC, CG, GG A3
8 8q24 region rs9642880 GG, GT, TT 1, 2
Cancer : Brain A MTHFR rs1801131 GG, GT, TT A
rs1801133 CC, CT, TT A
Cancer : Breast B CASP8 rs17468277 CC, CT, TT A, B
rs1045485 CC, CG, GG A
B intergenic rs13387042 AA, AG, GG A, B
4 intergenic rs2056116 AA, AG, GG A3
5 intergenic rs4700485 AA, AG, GG A, B
5 MRPS30 rs4415084 AA, AG, GG B
5 intergenic rs889312 AA, AC, CC A
6 TNF rs361525 AA, AG, GG A
6 CDKN1A rs3176336 AA, AT, TT A3
7 XRCC2 rs3218536 AA, AG, GG A
8 intergenic rs672888 CC, CT, TT A, B
8 8q24 rs13281615 AA, AG, GG A
8 CYP51A1 rs1042638 A
9 intergenic rs3218005 AA, AG, GG A3
9 CDKN2A rs3731239 CC, CT, TT A
10 FGFR2 rs1219648 AA, AG, GG A
rs2981582 CC, CT, TT A, B
rs2420946 CC, CT, TT A
rs2981582 CC, CT, TT A
10 TCF7L2 rs12255372 GG, GT, TT A
11 LSP1 rs3817198 CC, CT, TT A, B
11 ATM rs3218707 CC, CG, GG A3
rs4987945 CC, CG, GG C
rs4986761 CC, CT, TT A3
rs3218695 AA, AC, CC A3
rs1800056 CC, CT, TT A
rs1800057 CC, CG, GG A3
rs3092856 CC, CT, TT A3
rs1800058 CC, CT, TT A
rs1801673 AA, AT, TT A3
12 CDKN1B rs34330 CC, CT, TT A
13 BRCA2 rs1799954 CC, CT, TT A
rs766173 GG, GT, TT A
rs144848 GG, GT, TT A
rs4987117 CC, CT, TT A
rs1799954 CC, CT, TT A
rs11571746 CC, CT, TT A
rs11571747 AA, AC, CC A3
rs4987047 AA, AT, TT A
rs11571833 AA, AT, TT A3
rs1801426 AA, AG, GG A3
i4000379 DD, DI, II A
16 16q12 region rs3803662 CC, CT, TT A, B
17 BRCA1 rs1799950 AA, AG, GG A
rs4986850 AA, AG, GG A
rs2227945 AA, AG, GG A
rs16942 AA, AG, GG A
rs1799966 AA, AG, GG A
i4000377 DD, DI, II A
i4000378 DD, DI, II A
17 TP53 rs1042522 CC, CG, GG A
19 CCNE1 rs997669 AA, AG, GG A
20 AURKA rs2273535 AA, AT, TT A3
rs1047972 CC, CT, TT A
22 COMT rs4680 AA, AG, GG A
22 CHEK2 rs17879961 CC, CT, TT A
Cancer : Cervical 6 CD83 rs853360 A3
rs9296925 A3
rs9370729 A3
rs9230
rs750749 A3
Cancer : Colorectal 7 LEP rs2167270 AA, AG, GG A
8 POU5F1P1 rs6983267 GG, GT, TT A, B
8 EIF3H rs16892766 AA, AC, CC A, B
8 intergenic rs10505477 AA, AG, GG A
9 intergenic rs719725 AA, AC, CC A
10 TCF7L2 rs7903146 CC, CT, TT A
10 intergenic rs10795668 AA, AG, GG A, B
11 LOC120376 rs3802842 AA, AC, CC A, B
12 CHFR rs2306536 CC, CT, TT A
12 KLRK1 rs1049174 CC, CG, GG
15 intergenic rs4779584 CC, CT, TT A, B
18 SMAD7 rs4939827 CC, CT, TT A, B
rs12953717 CC, CT, TT A
rs4464148 CC, CT, TT A
19 INSR rs1864010 AA, AG, GG
20 AURKA rs2273535 AA, AT, TT A3
rs1047972 CC, CT, TT A
Cancer : Endometrial (Uterus) 12 MDM2 rs2279744 GG, GT, TT A
22 COMT rs4633 CC, CT, TT A
rs4680 AA, AG, GG A
Cancer : Gallbladder 3 OGG1 rs1052133 CC, CG, GG
4 EGF rs4444903 AA, AG, GG A
Cancer : Gastric (Stomach) A MTHFR rs1801133 CC, CT, TT A
8 PSCA rs2294008 CC, CT, TT A
17 MPO rs2333227 CC, CT, TT A3
20 AURKA rs1047972 CC, CT, TT A
Cancer : Leukemia (Blood) B ACOXL rs17483466 AA, AG, GG A
B SP140 rs13397985 GG, GT, TT A
6 IRF4 rs872071 AA, AG, GG A
11 intergenic rs735665 AA, AG, GG A
15 intergenic rs7176508 AA, AG, GG A3
19 PRKD2 rs11083846 AA, AG, GG A
Cancer : Liver 4 EGF rs4444903 AA, AG, GG A
6 TNF rs1800629 AA, AG, GG A
6 HFE rs1800562 AA, AG, GG A
Cancer : Lung A MTHFR rs1801133 CC, CT, TT A
6 CDKN1A rs1801270 AA, AC, CC A
7 ABCB1 rs3842 CC, CT, TT A2*
15 CHRNA3 rs1051730 CC, CT, TT A, B
15 LOC123688 rs8034191 CC, CT, TT A
16 ABCC1 rs212090 AA, AT, TT A
17 MPO rs2333227 CC, CT, TT A3
20 AURKA rs2273535 AA, AT, TT A3
22 CHEK2 rs17879961 CC, CT, TT A
Cancer : Oral and Larynx 4 ADH7 rs1573496 CC. CG, GG A
4 ADH1B rs1229984 AA, AG, GG
Cancer : Ovarian B SRD5A2 rs523349 CC, CG, GG A
7 PMS2 rs7797466 A
7 XRCC2 rs3218536 AA, AG, GG A
11 PGR rs1042838 GG, GT, TT A
11 intergenic rs608995 A3
13 RB1 rs4151620 CC, CG, GG A
rs2854344 AA, AG, GG A
13 P2RY5 rs2227311 CC, CT, TT A
Cancer : Pancreatic 3 ATR rs2227928 CC, CT, TT A
4 PALLD
5 MTRR rs162049 A3
rs10380 CC, CT, TT A
11 ATM rs1801516 AA, AG, GG A
rs664143 CC, CT, TT A
11 CHEK1 rs521102 CC, CT, TT
17 LIG3 rs2074522 CC, CT, TT A3
Cancer : Prostate B EHBP1 rs2710646 AA, AC, CC A, B
3 FYCO1 rs1545985 AA, AG, GG A
rs7652331 CC, CT, TT A
4 KIAA1211 rs629242 CC, CT, TT A
4 LOC152485 rs13149290 CC, CT, TT A
5 FCHSD1 rs251177 CC, CT, TT A
5 FGFR4 rs351855 CC, CT, TT A
7 JAZF1 rs10486567 A
8 8q24(1) rs1447295 AA, AC, CC A, B
8 8q24(2) rs6983267 GG, GT, TT A, B
8 8q24(3) rs10505483 AA, AC, CC A, B
8 8q24 rs16901979 AA, AC, CC A
9 DAB2IP rs1571801 GG, GT, TT A
10 intergenic rs10993994 CC, CT, TT A, B
10 TCF7L2 rs12255372 GG, GT, TT A
11 intergenic rs10896449 AA, AG, GG A, B
12 VDR rs2107301 CC, CT, TT A
rs2238135 CC, CG, GG A3
13 FAM124A rs10492519 AA, AG, GG A
14 ESR2 rs2987983 CC, CT, TT A
16 CDH1 rs16260 AA, AC, CC A
17 TCF2 rs4430796 AA, AG, GG A, B
17 17q24.3 rs1859962 GG, GT, TT A, B
X intergenic rs5945572 A, G A, B
Cancer : Skin (basal cell carcinoma) A PADI6 rs7538876 AA, AG, GG A, B
A intergenic rs801114 GG, GT, TT A, B
Cancer : Skin (melanoma) A IL6R rs6684439 CC, CT, TT A
rs4845622 AA, AC, CC B
rs4845618 GG, GT, TT A3
rs8192284 AA, AC, CC A
9 intergenic rs1408799 CC, CT, TT A
9 CDKN2A
12 CDK4
13 BRCA2 rs1799944 AA, AG, GG A
16 MC1R
Cancer : Skin (red hair) 16 MC1R rs1805009 CC, CG, GG
rs1805008 CC, CT, TT A
rs1805007 CC, CT, TT A
Cancer : Skin (light sensitivity) 20 intergenic rs1015362 AA, AG, GG A
rs4911414 GG, GT, TT A
Cancer : Testicular 5 SPRY4 rs4624820 AA, AG, GG A, B
6 BAK1 AA, AG, GG A, B
12 KITLG rs995030 AA, AG, GG A, B
X TGCT1
Cancer : Thyroid 9 intergenic rs965513 AA, AG, GG A
14 intergenic rs944289 CC, CT, TT A
Neuroblastoma 6 6p22 rs6939340 AA, AG, GG A
rs4712653 CC, CT, TT A
rs9295536 AA, AC, CC A
Non-Hodgkin Lymphoma 4 TLR6 rs5743815 CC, CT, TT A3
6 BAT2 rs3132453 A
12 SELPLG rs7300972 A3
19 B3GNT3 rs36686 A
22 UNC84B rs2072797 CC, CT, TT A


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