Table 2.

Truncating mutations and large rearrangements in PALB2 gene

Patient No.ExonNucleotide changeProtein changeMut. in ctrlsBC/other cancers age at dgCancers in the family (age at dg)BRCAPROeReceptors
High-risk patients: N = 409 (truncating mutations)
509a,b2c.73A>Tp.K25*0BC 75/75Breast, D (40)0.05N.A.
Bladder 78Uterus, M (47)
4513c.172_175delTTGTp.L58fs0BC 34Breast, PGM (36)0.11N.A.
Endometrial, PS (?)
738BC 39Breast, S (41)0.29ER, PRHER2+
Breast, MGM (70)
Colon, MS (50)
1,026BC 38Breast, M (56)0.21ER+, PR+HER2
Breast, MGM (40)
Colon, MGF (77)
1,120aBC 42/52Breast, S (55)0.39N.A.
Breast, MGM (?)
Colon, B (56)
Kidney, B (58)
Pancreas, M (46)
5794c.509_510delGAp.R170fs1BC 59Breast, S (40)0.07N.A.
Breast, PGM (50)
Breast, MGM (72)
Uterus, MS (?)
Pancreas, PGM (?)
3404c.661_662delinsTAp.V221*0BC 46Breast, S (50)0.07ER+, PR+HER2
Breast, MGM (60)
Gallbladder, F (68)
1260c4c.901_907del7p.D301fs0BC 36None0.14ER+, PR+HER2
13204c.1227_1231del5p.Y409fs0BC 37Breast, S (38)0.70ER, PRHER2+
Breast, M (65)
379d4c.1240C>Tp.R414*0BC 38Breast, M (50)0.09N.A.
4135c.1924delAp.M642fs0BC 46Breast, PGM (37)0.08N.A.
211a5c.1942_1945delCTTAinsAACp.L648fs0BC 41/42None0.39N.A.
143613c.3362delGp.G1121fs0BC 45Breast, MGM (49)0.08ER, PRHER2
High-risk patients: N = 409 (large rearrangements)
1647Del ex 7-8g.19557_22659del3103p.N863fsN.A.BC 34Breast, S (30)0.44N.A.
Gallbladder, MGM (73)
1507bDel ex 9-10g.22947_26370del3424, 26372C>Gp.A946_W1038delN.A.BC 42Breast, M (52)0.15N.A.
Bladder 42Breast, MGM (40)
79bDup ex 9-11g.22904_36589dup13686p.G1068fsN.A.BC 59Gallbladder, M (?)0.31ER+, PR+HER2+
OC 52Colon, F (?)
Colon 52
Unselected BC patients: N = 704
A2103c.172_175delTTGTp.L58fs0BC 65Lung, F (55)0.01ER, PRHER2
Kidney, M (53)
A361BC 46None0.06ER, PRHER2

NOTE: Novel mutations are marked in bold.

Abbreviations: B, brother; BC, breast cancer; D, daughter; ER, estrogen receptor; F, father; M, mother; MGF, maternal grandfather; MGM, maternal grandmother; MS, maternal sister; N.A., not available; OC, ovarian cancer; PGM, paternal grandmother; PR, progesterone receptor; PS, paternal sister; S, sister.

  • aBilateral BC.

  • bTumor duplicity or triplicity.

  • cMale BC.

  • dMedullary BC.

  • eBRCAPRO scores (37) in mutation carriers. Position in mRNA and genomic DNA is according to the NCBI reference sequence NM_024675.3 and NG_007406.1.