Table 1.
PALB2 germline mutations and carrier frequencies
| Populations | PALB2 mutations | Case–carrier frequency (%) | Control-carrier frequency (%) | Reference | Study designa |
|---|---|---|---|---|---|
| Australia | PALB2 c.196C >T, p.Gln66* | 1/70 (1.4) | – | 18 | Familial breast cancer |
| 1/747 (0.1%) | – | 36 | Familial breast cancer | ||
| PALB2 c.3113G >A, p.Trp1038* | 1/70 (1.4) | – | 18 | Familial breast cancer | |
| 5/1403 (0.004%) | 0/764 | 17 | Population-based | ||
| 2/66 (3%) | 17 | Early-onset multiple-case breast cancer | |||
| 8/871 (0.9%) | – | 41 | Familial breast cancer | ||
| 7/747 (0.9%) | – | 36 | Familial breast cancer | ||
| PALB2 c.1947_1948 insA, p.Glu650fs*13 | 1/747 (0.1%) | – | 36 | Familial breast cancer | |
| PALB2 c.2982_2983 insT, p.Ala995fs*16 | 1/747 (0.1%) | – | 36 | Familial breast cancer | |
| Canada | PALB2 c.229delT, p.Cys77fs*100 | 1/68 (1.5) | – | 29 | Familial breast cancer |
| PALB2 c.2323C >T, p.Gln775* | 3/406 (0.7) | 0/6440 | 38 | Early-onset and familial breast cancer | |
| 1/71 (1.4) | – | 70 | Familial breast cancer | ||
| 1/491 (0.2) | – | 70 | Ovarian cancer cases | ||
| 1/564 (0.2) | 0/6439 | 27 | Early-onset breast cancer | ||
| PALB2 c.3201_3561del, p.Met1067_Ser1186del | 1/228 (0.4) | – | 28 | Pancreatic cancer cases | |
| People’s Republic of China | PALB2 c.751C >T, p.Gln251* | 2/360 (0.6) | 0/864 | 19 | Familial breast cancer |
| PALB2 c.1050_1051delAAinsTCT, p.Gln350fs*11 | 1/360 (0.3) | 0/864 | 19 | Familial breast cancer | |
| Finland | PALB2 c.1592delT, p.Leu531fs*30a | 17/1918 (0.9) | 6/2501 (0.2) | 39,42 | Population-based |
| 19/947 (2) | 2/1079 (0.2) | 40 | Familial breast cancer | ||
| 8/1274 (0.6) | 40 | Sporadic breast cancer | |||
| Germany/Russia | PALB2 c.5089delAG, p.Arg170fs*8 | 1/81 (1.2) | – | 51 | Pancreatic cancer familiesb |
| PALB2 c.509_510delGA, p.Arg170fs*14 | 1/203 (0.49) | – | 20 | Bilateral breast cancer cases | |
| PALB2 c.758 insT, p.Leu273fs*4 | 1/40 (2.5)c | – | 71 | Triple negative breast cancer | |
| PALB2 c.1240C >T, p.Arg414* | 1/203 (0.49) | – | 20 | Bilateral breast cancer cases | |
| 1/81 (1.2) | – | 51 | Pancreatic cancer familiesb | ||
| PALB2 c.1633G >T, p.Glu545* | 1/203 (0.49) | – | 20 | Bilateral breast cancer cases | |
| PALB2 c.2761C >T, p.Gln921* | 1/203 (0.49) | – | 20 | Bilateral breast cancer cases | |
| PALB2 c.3116delA, p.Asn1039fs*2 | 1/81 (1.2) | – | 51 | Pancreatic cancer familiesb | |
| Italy | PALB2 c.72delG, p.Leu24fs*9 | 1/62 (1.6) | – | 21 | Breast–pancreatic cancer families |
| PALB2 c.1027C >T, p.Gln343* | 1/62 (1.6) | – | 21 | Breast–pancreatic cancer families | |
| PALB2 c.1317delG, p.Gly439fs*13 | 1/95 (1.0) | – | 22 | Familial breast cancer | |
| PALB2 c.2257C >T, p.Arg753* | 1/132 (0.8) | 0/300 | 23 | Familial breast cancer | |
| PALB2 c.3497delG, p.Gly1166fs*21 | 1/62 (1.6) | – | 21 | Breast–pancreatic cancer families | |
| Netherlands | PALB2 c.509_510delGA, p.Arg170fs*14 | 1/110 (1)d | – | 24 | Breast (including male)–pancreatic cancer families |
| Poland | PALB2 c.509_510delGA, p.Arg170fs*14 | 2/339 (0.6) | 1/1310 (0.08) | 31 | Ovarian cancer cases |
| 4/648 (0.6) | 31 | Familial breast cancer | |||
| South Africa | PALB2 c.697delG, p.Val233fs*5 | 1/48 (2.0) | 0/75 | 32 | Unselected early-onset breast cancer |
| Spain | PALB2 c.1056_1057delGA, p.Glu352fs*8 | 1/797 (0.12) | – | 33 | Familial breast cancer |
| United Kingdom | PALB2 c.2386G >T, p.Gly796* | 1/923 (0.1) | 0/1084 | 2 | Familial breast cancer |
| PALB2 c.2982_2983 insT, p.Ala995fs*16 | 1/923 (0.1) | 0/1084 | 2 | Familial breast cancer | |
| PALB2 c.3113G >A, p.Trp1038* | 2/923 (0.2) | 0/1084 | 2 | Familial breast cancer | |
| PALB2 c.3116delA, p.Asn1039fs*2 | 3/923 (0.3) | 0/1084 | 2 | Familial breast cancer | |
| PALB2 c.3549C >G, p.Tyr1183* | 3/923 (0.3) | 0/1084 | 2 | Familial breast cancer | |
| USA | PALB2 c.172_175delTTGT, p.Leu58fs*10 | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer |
| PALB2 c.196C > T, p.Gln66* | 2/972 (0.2) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.509_510delGA, p.Arg170fs*14 | 7/972 (0.7) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.757_758delCT, p.Leu253fs*3 | 4/972 (0.4) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.1240C >T, p.Arg414* | 3/972 (0.3) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.1592delT, p.Leu531fs*30a | 1/559 (0.2) | 0/565e | 36 | Contralateral breast cancer cases | |
| PALB2 c.1653T >A, p.Tyr551* | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.2386G >T, p.Gly796* | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.2559C >T, p.Gly853fs*21f | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.2686_2987 insT, p.Ser896fs*32 | 3/972 (0.3) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.2718G >A, p.Trp906* | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.28351G >C | 1/559 (0.2) | 0/565e | 36 | Contralateral breast cancer cases | |
| PALB2 c.2920_2921delAA, p.Lys974fs*5 | 1/972 (0.1) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.3026delC, p.Pro1009fs*6 | 2/972 (0.2) | 0/960 | 29 | Familial breast cancer | |
| PALB2 c.3113G >A, p.Trp1038* | 5/972 (0.5) | 0/960 | 29 | Familial breast cancer | |
| 1/559 (0.2) | 0/565e | 36 | Contralateral breast cancer cases | ||
| PALB2 c.3202 + 1G >C | 1/559 (0.2) | 0/565e | 36 | Contralateral breast cancer cases | |
| PALB2 c.3549C >G, p.Tyr1183* | 1/94 (1) | – | 30 | Breast–pancreatic cancer families | |
| 1/559 (0.2) | 0/565e | 36 | Contralateral breast cancer cases | ||
| 1/97 (1) | – | 24 | Male breast cancer cases | ||
| PALB2 c.2962C >T, p.Gln988* | 1/94 (1) | – | 30 | Breast–pancreatic cancer families |
Notes:
a
Guide only, see reference for full details
b
study includes EUROPAC
c
carrier also BRCA1 mutation carrier
d
carrier is a male breast cancer case
e
controls are unilateral breast cancer case
f
mutation identified via reverse transcription PCR.
Abbreviations: EUROPAC, The European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer; PCR, polymerase chain reaction.