Table 4.
Germline variants identified in two or more of the 186 reviewed articles.
| Gene | Variant | Allele Frequency |
Articles’ PMID | Cancer type |
|---|---|---|---|---|
| PALB2 | chr16, c.172_175delTTGT, p.Q60fs, rs1214293842 | 0.000042 | 25330149, 30128536 | Breast, Ovarian & Breast |
| PALB2 | chr16, c.509_510delGA, p.R170fs, rs863224790 | 0.000037 | 25330149, 30128536 | Breast, Ovarian & Breast |
| PALB2 | chr16, c.1240C>T, p.R414*, rs180177100 | 0.000009 | 27449771, 30128536 | Pancreatic, Ovarian & Breast |
| PALB2 | chr16, c.3256C>T, p.R1086*, rs587776527 | 0.000009 | 23561644, 30128536 | Pancreatic, Ovarian & Breast |
| PALB2 | chr16, c.3004_3007delGAAA, p.E1002Tfs | 0 | 26485759, 30128536 | Prostate, Ovarian & Breast |
| PALB2 | chr16, c.3549C>A, p.Y1183*, rs118203998 | 0.000009 | 26689913, 30128536 | Multiple_12, Ovarian & Breast |
| PALB2 | chr16, c.424A>T, p.K142* | 0 | 26689913, 30128536 | Multiple_12, Ovarian & Breast |
| BRCA2 | chr13, c.658_659delGT, p.V220fs, rs876660049 | 0.000028 | 26689913, 28202063 | Multiple_12, Breast |
| BRCA2 | chr13, c.6275_6276delTT, p.Leu2092fs, rs11571658 | 0.000065 | 25330149, 29915322 | Breast, Prostate |
| BRCA2 | chr13, c.9246_9247insA, p.T3085fs, rs80359752 | 0 | 25330149, 29915322 | Breast, Prostate |
| BRCA2 | chr13, c.865A>C, p.N289H, rs766173 | 0.052597 | 29317335, 29747023 | Melanoma, Head and Neck |
| BRCA2 | chr13, c.9294C>G, p.Y3098*, rs80359200 | 0.000009 | 26580448, 29625052 | Pediatric, Multiple_33 |
| ATM | chr11, c.5071A>C, p.S1691R, rs1800059 | 0.001937 | 28202063, 28652578 | Breast, Blood (CLL) |
| ATM | chr11, c.170G>GA, p.W57* | 0 | 22585167, 30128536 | Pancreatic, Ovarian & Breast |
| ATM | chr11, c.6095G>GA, p.R2032K, rs139770721 | 0.000027 | 22585167, 29625052 | Pancreatic, Multiple_33 |
| ATM | chr11, c.6100C>T p.R2034*, rs532480170 | 0.000009 | 27913932, 30128536 | Breast, Ovarian & Breast |
| ATM | chr11, g.108155008_delG, p.E1267fs | 0 | 28652578, 29625052 | Blood (CLL), Multiple_33 |
| BRCA1 | chr17, c.1067A>G, p.Q356R, rs1799950 | 0.045162 | 25923920, 26485759 | Breast, Prostate |
| BRCA1 | chr17, c.4065_4068delTCAA, p.N1355fs, rs886040195 | 0.000018 | 26689913, 29625052 | Multiple_12, Multiple_33 |
| BRCA1 | chr17, c.1054G>T, p.E352*, rs80357472 | 0.000009 | 26689913, 29625052 | Multiple_12, Multiple_33 |
| BRCA1 | chr17, c.68_69delAG, p.E23fs, rs80357410 | 0.000175 | 26689913, 29625052 | Multiple_12, Multiple_33 |
| TP53 | chr17, c.733C>T, p.G245S, rs28934575 | 0 | 26580448, 29351919, 29602769 | Pediatric, Pediatric, Brain |
| TP53 | chr17, c.524G>A, p.R175H, rs28934578 | 0 | 26580448, 30128536 | Pediatric, Ovarian & Breast |
| TP53 | chr17, c.743G>A, p.R248Q, rs11540652 | 0.000009 | 26580448, 30128536 | Pediatric, Ovarian & Breast |
| FANCM | chr14, c.5101C>T, p.Q1701*, rs147021911 | 0.001530 | 25288723, 28881617 | Breast, Ovarian |
| FANCM | chr14, c.5791C>T, p.R1931*, rs144567652 | 0.001181 | 28591191, 28881617 | Ovarian, Ovarian |
| KAT6B | chr10, c.4546G>T, p.D1516Y | 0 | 23800003, 24969172 | Breast, Breast |
| KAT6B | chr10, c.4729C>T, p.R1577C | 0 | 23800003, 24969172 | Breast, Breast |
| POT1 | chr7, c.1851_1852delTA, p.D617fs, rs758673417 | 0.000009 | 25482530, 27329137 | Glioma, Colorectal |
| MSH6 | chr2, c.3261delC, p.F1088fs | 0 | 26689913, 30128536 | Multiple_12, Ovarian & Breast |
| CHEK2 | chr22, c.1100delC, p.T367fs | 0 | 22527104, 29351919, 30128536 | Breast, Pediatric, Breast/Ovarian |
| RAD51D | chr17, g.33433425G>A, p.R206*, rs387906843 | 0.000017 | 26689913, 28591191 | Multiple_12, Ovarian |
| FANCC | chr9, c.C553C>T, p.R185*, rs121917783 | 0.000064 | 23028338, 28125078 | Breast, Sarcoma (Ewing) |
| MUTYH | chr1, c.1187G>A, p.G396D | 0 | 27084275, 28634180 | Prostate, Intestine (small) |
| BLM | chr15, c.1933C>T, p.Q645*, rs373525781 | 0.000018 | 23028338, 28125078 | Breast, Sarcoma (Ewing) |
| TYK2 | chr19, c.2279C>T, p.P760L | 0 | 27733777, 29351919 | Blood (ALL), Pediatric |
| MAX | chr14, c.223C>T, p.R75* | 0 | 21685915, 29625052 | Pheochromocytoma, Multiple_33 |
| NOTCH2 | chr1, c.3625T>G, p.F1209V, rs147223770 | 0.003217 | 26485759, 29868112 | Prostate, Breast |
| XRCC2 | chr7, c.96delT, p.F32fs, rs774296079 | 0.000075 | 25330149, 26689913 | Breast, Multiple_12 |
| RET | chr10, c.2370G>C, p.L790F, rs75030001 | 0.000009 | 26580448, 28125078 | Pediatric, Sarcoma (Ewing) |
| GPRC5A | chr12, c.183delG, p.R61fs, rs527915306 | 0.002113 | 22527104, 24470238 | Breast, Breast |
| KDR | chr4, c.3193G>A, p.A1065T, rs56302315 | 0.000324 | 26485759, 27365461 | Prostate, Blood (HL) |
| MITF | chr3, c.952G>A, p.E318K, rs149617956 | 0.001330 | 28125078, 29317335 | Sarcoma (Ewing), Melanoma |