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Ref Type Journal Article
PMID (31757951)
Authors Boonen RACM, Rodrigue A, Stoepker C, Wiegant WW, Vroling B, Sharma M, Rother MB, Celosse N, Vreeswijk MPG, Couch F, Simard J, Devilee P, Masson JY, van Attikum H
Title Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Journal Vol Issue Date Pages Journal Short Title
Nature communications 10 1 2019 Nov 22 5296 Nat Commun
URL
Abstract Text Heterozygous carriers of germ-line loss-of-function variants in the DNA repair gene PALB2 are at a highly increased lifetime risk for developing breast cancer. While truncating variants in PALB2 are known to increase cancer risk, the interpretation of missense variants of uncertain significance (VUS) is in its infancy. Here we describe the development of a relatively fast and easy cDNA-based system for the semi high-throughput functional analysis of 48 VUS in human PALB2. By assessing the ability of PALB2 VUS to rescue the DNA repair and checkpoint defects in Palb2 knockout mouse embryonic stem (mES) cells, we identify various VUS in PALB2 that impair its function. Three VUS in the coiled-coil domain of PALB2 abrogate the interaction with BRCA1, whereas several VUS in the WD40 domain dramatically reduce protein stability. Thus, our functional assays identify damaging VUS in PALB2 that may increase cancer risk.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
PALB2 C77Vfs*100 frameshift loss of function - predicted PALB2 C77Vfs*100 indicates a shift in the reading frame starting at amino acid 77 and terminating 100 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). C77Vfs*100 results in indeterminate homology-directed DNA repair in cultured cells (PMID: 33964450), and due to the effects of other truncation mutations downstream of C77 (PMID: 33964450, PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 C882fs frameshift loss of function - predicted PALB2 C882fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 882 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). C882fs results in impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
PALB2 D134N missense no effect - predicted PALB2 D134N lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). D134N results in levels of homologous recombination (PMID: 33169439) and DNA damage-induced cell cycle checkpoint maintenance similar to wild-type protein, does not demonstrate reduced homology-directed DNA repair activity in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 D498Y missense unknown PALB2 D498Y lies within the DNA-binding region of the Palb2 protein (UniProt.org). D498Y does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 D595Mfs*4 frameshift loss of function - predicted PALB2 D595Mfs*4 indicates a shift in the reading frame starting at amino acid 595 and terminating four residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). D595Mfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of D595 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 D871G missense no effect - predicted PALB2 D871G lies within WD repeat 1 of the Palb2 protein (UniProt.org). D871G results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 D927A missense unknown PALB2 D927A lies within WD repeat 2 of the Palb2 protein (UniProt.org). D927A does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 E1010* nonsense loss of function - predicted PALB2 E1010* results in a premature truncation of the Palb2 protein at amino acid 1010 of 1186 (UniProt.org). E1010* has not been characterized however, due to the effects of other truncation mutations downstream of E1010 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 E1018D missense no effect - predicted PALB2 E1018D lies within WD repeat 4 of the Palb2 protein (UniProt.org). E1018D results in DNA damage-induced cell cycle checkpoint maintenance and homology-directed DNA repair activity similar to wild-type in cultured cells (PMID: 31757951, PMID: 35853885), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 E230* nonsense loss of function - predicted PALB2 E230* results in a premature truncation of the Palb2 protein at amino acid 230 of 1186 (UniProt.org). E230* results in impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
PALB2 E3* nonsense loss of function - predicted PALB2 E3* results in a premature truncation of the Palb2 protein at amino acid 3 of 1186 (UniProt.org). E3* has not been characterized however, due to the effects of other truncation mutations downstream of E3 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 E407* nonsense loss of function - predicted PALB2 E407* results in a premature truncation of the Palb2 protein at amino acid 407 of 1186 (UniProt.org). E407* has not been characterized, however, due to the effects of other truncation mutations downstream of E407 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 E42K missense no effect - predicted PALB2 E42K lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). E42K results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 E669fs frameshift loss of function - predicted PALB2 E669fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 669 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). E669fs results in protein expression similar to wild-type Palb2, however, demonstrates impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
PALB2 E672Q missense no effect PALB2 E672Q does not lie within any known functional domains of the Palb2 protein (UniProt.org). E672Q results in homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay (PMID: 33964450), and homology-directed DNA repair activity similar to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
PALB2 E940G missense unknown PALB2 E940G lies within WD repeat 2 of the Palb2 protein (UniProt.org). E940G does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 F1181Lfs*54 frameshift loss of function - predicted PALB2 F1181Lfs*54 indicates a shift in the reading frame starting at amino acid 1181 and terminating 54 residues downstream, resulting in a premature truncation of the functional protein and extension of the 1186 amino acid Palb2 protein length by 49 amino acids (UniProt.org). F1181Lfs*54 has not been characterized, however, due to the effects of other truncation mutations downstream of F1181 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 F440fs frameshift loss of function - predicted PALB2 F440fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 440 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). F440fs has not been characterized however, due to the effects of other truncation mutations downstream of F440 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 G1043D missense loss of function PALB2 G1043D lies within WD repeat 4 of the Palb2 protein (UniProt.org). G1043D confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, reduced Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31757951).
PALB2 G1174R missense unknown PALB2 G1174R lies within WD repeat 7 of the Palb2 protein (UniProt.org). G1174R does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 G808* nonsense loss of function - predicted PALB2 G808* results in a premature truncation of the Palb2 protein at amino acid 808 of 1186 (UniProt.org). G808* has not been characterized however, due to the effects of other truncation mutations downstream of G808 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 G937R missense loss of function PALB2 G937R lies within WD repeat 2 of the Palb2 protein (UniProt.org). G937R confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, reduced Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31757951).
PALB2 G998E missense no effect PALB2 G998E lies within WD repeat 3 of the Palb2 protein (UniProt.org). G998E results in Brca2 binding, Rad51 foci formation, and DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31586400, PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951).
PALB2 I1037T missense unknown PALB2 I1037T lies within WD repeat 4 of the Palb2 protein (UniProt.org). The functional effect of I1037T is conflicting as it results in decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but demonstrates homology-directed DNA repair activity similar to wild-type Palb2 in a reporter assay in another study (PMID: 33964450).
PALB2 I1051S missense unknown PALB2 I1051S lies within WD repeat 4 of the Palb2 protein (UniProt.org). I1051S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 I1180T missense no effect - predicted PALB2 I1180T lies within WD repeat 7 of the Palb2 protein (UniProt.org). I1180T results in Brca2 binding similar to wild-type Palb2 in cultured cells (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 I944N missense loss of function PALB2 I944N lies within WD repeat 2 of the Palb2 protein (UniProt.org). I944N confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), reduced Brca2 and Rad51 binding, recruitment to DNA damage sites, and Rad51 foci formation, aberrant cytosolic accumulation (PMID: 31636395), and loss of homology-directed DNA repair activity in cultured cells (PMID: 31636395, PMID: 31757951).
PALB2 I966T missense unknown PALB2 I966T lies within WD repeat 3 of the Palb2 protein (UniProt.org). I966T does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 K1048Rfs*27 frameshift loss of function - predicted PALB2 K1048Rfs*27 indicates a shift in the reading frame starting at amino acid 1048 and terminating 27 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K1048Rfs*27 has not been characterized however, due to the effects of other truncation mutations downstream of K1048 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K142Nfs*35 frameshift loss of function - predicted PALB2 K142Nfs*35 indicates a shift in the reading frame starting at amino acid 142 and terminating 35 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K142Nfs*35 has not been characterized however, due to the effects of other truncation mutations downstream of K142 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K25* nonsense loss of function - predicted PALB2 K25* results in a premature truncation of the Palb2 protein at amino acid 25 of 1186 (UniProt.org). K25* has not been characterized however, due to the effects of other truncation mutations downstream of K25 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K346Tfs*13 frameshift loss of function - predicted PALB2 K346Tfs*13 indicates a shift in the reading frame starting at amino acid 346 and terminating 13 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K346Tfs*13 has not been characterized, however, due to the effects of other truncation mutations downstream of K346 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 K353Ifs*7 frameshift loss of function - predicted PALB2 K353Ifs*7 indicates a shift in the reading frame starting at amino acid 353 and terminating seven residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K353Ifs*7 has not been characterized, however, due to the effects of other truncation mutations downstream of K353 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K353Nfs*3 frameshift loss of function - predicted PALB2 K353Nfs*3 indicates a shift in the reading frame starting at amino acid 353 and terminating three residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K353Nfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of K353 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K515* nonsense loss of function - predicted PALB2 K515* results in a premature truncation of the Palb2 protein at amino acid 515 of 1186 (UniProt.org). K515* has not been characterized, however, due to the effects of other truncation mutations downstream of K515 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K515R missense unknown PALB2 K515R lies within the DNA-binding region of the Palb2 protein (UniProt.org). K515R does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 K862Rfs*9 frameshift loss of function - predicted PALB2 K862Rfs*9 indicates a shift in the reading frame starting at amino acid 862 and terminating 9 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). K862Rfs*9 has not been characterized however, due to the effects of other truncation mutations downstream of K862 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 K908fs frameshift loss of function - predicted PALB2 K908fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 908 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). K908fs has not been characterized however, due to the effects of other truncation mutations downstream of K908 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 L1040S missense unknown PALB2 L1040S lies within WD repeat 4 of the Palb2 protein (UniProt.org). L1040S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 L1070P missense loss of function PALB2 L1070P lies within WD repeat 5 of the Palb2 protein (UniProt.org). L1070P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), aberrant cytosolic accumulation and reduced Rad51 foci formation (PMID: 31636395), and intermediate or impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 33964450, PMID: 31636395, PMID: 31757951).
PALB2 L1119P missense unknown PALB2 L1119P lies within WD repeat 6 of the Palb2 protein (UniProt.org). L1119P results in decreased nuclear localization, Brca2 binding, and recruitment to DNA damage sites and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400), however, demonstrates similar Rad51 foci formation and increased Rad51 foci intensity to wild-type (PMID: 31586400), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown.
PALB2 L1143H missense unknown PALB2 L1143H lies within WD repeat 6 of the Palb2 protein (UniProt.org). L1143H does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 L1172P missense loss of function PALB2 L1172P lies within WD repeat 7 of the Palb2 protein (UniProt.org). L1172P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 L24S missense loss of function PALB2 L24S lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L24S confers a loss of function to the Palb2 protein as demonstrated by decreased Brca1 binding and Rad51 foci formation (PMID: 31636395), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31636395, PMID: 31757951, PMID: 33964450).
PALB2 L337S missense no effect - predicted PALB2 L337S lies within the DNA-binding region of the Palb2 protein (UniProt.org). L337S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951) and results in homologous recombination activity similar to wild-type protein in culture (PMID: 33169439), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 L35P missense loss of function PALB2 L35P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). L35P confers a loss of function to the Palb2 protein as demonstrated by a loss of Brca1 binding, Rad51 foci formation, and homology-directed DNA repair activity in cultured cells, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells (PMID: 28319063, PMID: 31586400, PMID: 31757951).
PALB2 L531Cfs*30 frameshift loss of function PALB2 L531Cfs*30 indicates a shift in the reading frame starting at amino acid 531 and terminating 30 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). L531Cfs*30 confers a loss of function to the Palb2 protein as demonstrated by decreased DNA binding affinity, Brca2 and Rad51 binding, and Rad51 activation in cultured cells (PMID: 28158555), and impaired homology-directed DNA repair activity compared to wild-type in a reporter assay (PMID: 33964450), and in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 L622P missense unknown PALB2 L622P does not lie within any known functional domains of the Palb2 protein (UniProt.org). L622P does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 L659Qfs*3 frameshift loss of function - predicted PALB2 L659Qfs*3 indicates a shift in the reading frame starting at amino acid 659 and terminating three residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). L659Qfs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of L659 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 L671* nonsense loss of function - predicted PALB2 L671* results in a premature truncation of the Palb2 protein at amino acid 671 of 1186 (UniProt.org). L671* has not been characterized, however, due to the effects of other truncation mutations downstream of L671 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 L931R missense no effect - predicted PALB2 L931R lies within WD repeat 2 of the Palb2 protein (UniProt.org). L931R results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 L939W missense unknown PALB2 L939W lies within WD repeat 2 of the Palb2 protein (UniProt.org). The functional effect of L939W is conflicting, as it has been reported to result in decreased Brca2, Rad51, and Xrcc3 binding in in vitro assays and a modest reduction in homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 24141787), but in another study demonstrates Brca2, Rad51, and Rad51c binding similar to wild-type Palb2 in cultured cells (PMID: 24141787, PMID: 31586400), and homology-directed DNA repair activity similar to wild-type in a reporter assay (PMID: 33964450), and in cultured cells lacking Tp53 (PMID: 27829436, PMID: 31636395, PMID: 31757951), and therefore, its effect on Palb2 protein function is unknown.
PALB2 L947S missense loss of function PALB2 L947S lies within WD repeat 2 of the Palb2 protein (UniProt.org). L947S confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, Brca2 binding, recruitment to DNA damage sites, and Rad51 foci formation and intensity, and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31757951).
PALB2 L961P missense loss of function PALB2 L961P lies within WD repeat 2 of the Palb2 protein (UniProt.org). L961P confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, reduced Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31757951).
PALB2 L972Q missense loss of function PALB2 L972Q lies within WD repeat 3 of the Palb2 protein (UniProt.org). L972Q confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 M296* nonsense loss of function - predicted PALB2 M296* results in a premature truncation of the Palb2 protein at amino acid 296 of 1186 (UniProt.org). M296* has not been characterized however, due to the effects of other truncation mutations downstream of M296 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 M723Vfs*21 frameshift loss of function - predicted PALB2 M723Vfs*21 indicates a shift in the reading frame starting at amino acid 723 and terminating 21 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). M723Vfs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of M723 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 N280Tfs*8 frameshift loss of function - predicted PALB2 N280Tfs*8 indicates a shift in the reading frame starting at amino acid 280 and terminating 8 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N280Tfs*8 has not been characterized however, due to the effects of other truncation mutations downstream of N280 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 N344Tfs*2 frameshift loss of function - predicted PALB2 N344Tfs*2 indicates a shift in the reading frame starting at amino acid 344 and terminating two residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N344Tfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of N344 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 N821Tfs*25 frameshift loss of function - predicted PALB2 N821Tfs*25 indicates a shift in the reading frame starting at amino acid 821 and terminating 25 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). N821Tfs*25 has not been characterized however, due to the effects of other truncation mutations downstream of N821 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 P1009Lfs*6 frameshift loss of function PALB2 P1009Lfs*6 indicates a shift in the reading frame starting at amino acid 1009 and terminating 6 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). P1009Lfs*6 confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 P1111A missense unknown PALB2 P1111A lies within the RAD51, BRCA2, and POLH-interacting regions of the Palb2 protein (UniProt.org). P1111A does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 P113Qfs*64 frameshift loss of function - predicted PALB2 P113Qfs*64 indicates a shift in the reading frame starting at amino acid 113 and terminating 64 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). P113Qfs*64 has not been characterized however, due to the effects of other truncation mutations downstream of P113 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 P210L missense no effect PALB2 P210L lies within the DNA-binding and BRCA1-interacting regions of the Palb2 protein (UniProt.org). P210L retains homology-directed DNA repair activity in cultured cells (PMID: 31636395, PMID: 31757951), results in BRCA1 binding similar to wild-type Palb2 in a mammalian two-hybrid assay, and rescues PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 31586400)
PALB2 P378Lfs*46 frameshift loss of function - predicted PALB2 P378Lfs*46 indicates a shift in the reading frame starting at amino acid 378 and terminating 46 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). P378Lfs*46 has not been characterized, however, due to the effects of other truncation mutations downstream of P378 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 P4S missense unknown PALB2 P4S lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P4S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 P5S missense unknown PALB2 P5S lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). P5S does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 P707L missense no effect - predicted PALB2 P707L does not lie within any known functional domains of the Palb2 protein (UniProt.org). P707L results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 P864S missense no effect PALB2 P864S lies within WD repeat 1 of the Palb2 protein (UniProt.org). P864S results in Brca2 binding, Rad51 foci formation, and recruitment to DNA damage sites similar to wild-type Palb2 in cultured cells (PMID: 31586400), retains homology-directed DNA repair activity in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400).
PALB2 Q1023* nonsense loss of function - predicted PALB2 Q1023* results in a premature truncation of the Palb2 protein at amino acid 1023 of 1186 (UniProt.org). Q1023* has not been characterized however, due to the effects of other truncation mutations downstream of Q1023 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q1056* nonsense loss of function - predicted PALB2 Q1056* results in a premature truncation of the Palb2 protein at amino acid 1056 of 1186 (UniProt.org). Q1056* has not been characterized, however, due to the effects of other truncation mutations downstream of Q1056 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q151* nonsense loss of function - predicted PALB2 Q151* results in a premature truncation of the Palb2 protein at amino acid 151 of 1186 (UniProt.org). Q151* has not been characterized however, due to the effects of other truncation mutations downstream of Q151 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q348* nonsense loss of function - predicted PALB2 Q348* results in a premature truncation of the Palb2 protein at amino acid 348 of 1186 (UniProt.org). Q348* has not been characterized, however, due to the effects of other truncation mutations downstream of Q348 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q559R missense no effect PALB2 Q559R lies within the DNA-binding region of the Palb2 protein (UniProt.org). Q559R is a common Palb2 polymorphism (PMID: 23977390, PMID: 21165770), results in homologous recombination similar to wild-type Palb2 (PMID: 33169439, PMID: 33964450) and does not demonstrate reduced homology-directed DNA repair activity in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
PALB2 Q60Rfs*7 frameshift loss of function PALB2 Q60Rfs*7 indicates a shift in the reading frame starting at amino acid 60 and terminating 7 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). Q60Rfs*7 confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 Q790* nonsense loss of function - predicted PALB2 Q790* results in a premature truncation of the Palb2 protein at amino acid 790 of 1186 (UniProt.org). Q790* has not been characterized, however, due to the effects of other truncation mutations downstream of Q790 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q921Tfs*7 frameshift loss of function - predicted PALB2 Q921Tfs*7 indicates a shift in the reading frame starting at amino acid 921 and terminating seven residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). Q921Tfs*7 has not been characterized however, due to the effects of other truncation mutations downstream of Q921 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 Q988* nonsense loss of function PALB2 Q988* results in a premature truncation of the Palb2 protein at amino acid 988 of 1186 (UniProt.org). Q988* confers a loss of function to the Palb2 protein as demonstrated by aberrant cytosolic accumulation in cultured cells (PMID: 28158555), and reduced protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 R1086Efs*9 frameshift loss of function - predicted PALB2 R1086Efs*9 indicates a shift in the reading frame starting at amino acid 1086 and terminating 9 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). R1086Efs*9 has not been characterized, however, due to the effects of other truncation mutations downstream of R1086 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 R131fs frameshift loss of function - predicted PALB2 R131fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 131 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). R131fs has not been characterized however, due to the effects of other truncation mutations downstream of R131 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 R37H missense unknown PALB2 R37H lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R37H results in decreased Brca1 binding and recruitment to DNA damage sites (PMID: 31757951), reduced Rad51 foci formation and intensity (PMID: 31586400), impaired homology-directed DNA repair activity, and failure to rescue PARP inhibitor sensitivity in PALB2-null cells in culture (PMID: 28319063, PMID: 31586400, PMID: 31757951), but in other studies demonstrates Brca1 binding and recruitment to DNA damage sites similar to wild-type Palb2 (PMID: 28319063, PMID: 31586400), and homology-directed DNA repair similar to wild-type in a reporter assay (PMID: 33964450), and therefore, its effect on Palb2 protein function is unknown.
PALB2 R414* nonsense loss of function - predicted PALB2 R414* results in a premature truncation of the Palb2 protein at amino acid 414 of 1186 (UniProt.org). R414* has not been characterized however, due to the effects of other truncation mutations downstream of R414 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 S1058P missense no effect - predicted PALB2 S1058P lies within WD repeat 5 of the Palb2 protein (UniProt.org). S1058P results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 S1160P missense unknown PALB2 S1160P lies within WD repeat 7 of the Palb2 protein (UniProt.org). S1160P does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 S172fs frameshift loss of function PALB2 S172fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 172 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). S172fs confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951).
PALB2 S254Ifs*3 frameshift loss of function - predicted PALB2 S254Ifs*3 indicates a shift in the reading frame starting at amino acid 254 and terminating 3 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). S254Ifs*3 has not been characterized, however, due to the effects of other truncation mutations downstream of S254 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 S387Lfs*14 frameshift loss of function - predicted PALB2 S387Lfs*14 indicates a shift in the reading frame starting at amino acid 387 and terminating 14 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). S387Lfs*14 has not been characterized, however, due to the effects of other truncation mutations downstream of S387 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 S417Y missense no effect - predicted PALB2 S417Y lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). S417Y results in reduced chromatin interaction compared to wild-type Palb2 (PMID: 29387807), however, demonstrates Rad51 foci formation and cell survival in response to genotoxic stress similar to wild-type in cultured cells (PMID: 29387807), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 S779* nonsense loss of function - predicted PALB2 S779* results in a premature truncation of the Palb2 protein at amino acid 779 of 1186 (UniProt.org). S779* has not been characterized, however, due to the effects of other truncation mutations downstream of S779 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 S859* nonsense loss of function - predicted PALB2 S859* results in a premature truncation of the Palb2 protein at amino acid 859 of 1186 (UniProt.org). S859* has not been characterized however, due to the effects of other truncation mutations downstream of S859 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 S865P missense unknown PALB2 S865P lies within WD repeat 1 of the Palb2 protein (UniProt.org). S865P does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 S979Vfs*11 frameshift loss of function - predicted PALB2 S979Vfs*11 indicates a shift in the reading frame starting at amino acid 979 and terminating 11 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). S979Vfs*11 has not been characterized however, due to the effects of other truncation mutations downstream of S979 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 T1030I missense loss of function PALB2 T1030I lies within WD repeat 4 of the Palb2 protein (UniProt.org). T1030I confers a loss of function to the Palb2 protein as demonstrated by reduced Rad51 and Rad51c binding in in vitro assays (PMID: 24141787), decreased protein stability (PMID: 24141787, PMID: 31757951), reduced Rad51 foci formation, loss of Brca2 binding, and aberrant cytoplasmic localization (PMID: 31586400), and impaired homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells (PMID: 31586400, PMID: 31636395, PMID: 31757951).
PALB2 T31I missense unknown PALB2 T31I lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). T31I does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 T351Rfs*4 frameshift loss of function - predicted PALB2 T351Rfs*4 indicates a shift in the reading frame starting at amino acid 351 and terminating four residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). T351Rfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of T351 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 T413Hfs*11 frameshift loss of function - predicted PALB2 T413Hfs*11 indicates a shift in the reading frame starting at amino acid 413 and terminating 11 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). T413Hfs*11 has not been characterized however, due to the effects of other truncation mutations downstream of T413 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 T494Lfs*67 frameshift loss of function - predicted PALB2 T494Lfs*67 indicates a shift in the reading frame starting at amino acid 494 and terminating 67 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). T494Lfs*67 has not been characterized, however, due to the effects of other Palb2 truncation mutations downstream of T494 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
PALB2 T706I missense unknown PALB2 T706I does not lie within any known functional domains of the Palb2 protein (UniProt.org). T706I does not demonstrate reduced homology-directed DNA repair activity compared to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 V1123M missense unknown PALB2 V1123M lies within WD repeat 6 of the Palb2 protein (UniProt.org). V1123M does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 W1038* nonsense loss of function PALB2 W1038* results in a premature truncation of the Palb2 protein at amino acid 1038 of 1186 (UniProt.org). W1038* confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), aberrant cytosolic accumulation, decreased Brca2 binding and Rad51 foci formation (PMID: 28158555), and impaired homologous recombination in cultured cells (PMID: 28158555, PMID: 31757951).
PALB2 W1159L missense unknown PALB2 W1159L lies within WD repeat 7 of the Palb2 protein (UniProt.org). W1159L does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 W1164C missense unknown PALB2 W1164C lies within WD repeat 7 of the Palb2 protein (UniProt.org). W1164C does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 W898* nonsense loss of function - predicted PALB2 W898* results in a premature truncation of the Palb2 protein at amino acid 898 of 1186 (UniProt.org). W898* has not been characterized however, due to the effects of other truncation mutations downstream of W898 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
PALB2 W912G missense loss of function PALB2 W912G lies within WD repeat 1 of the Palb2 protein (UniProt.org). W912G confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability, reduced Rad51 foci formation, and impaired homology-directed DNA repair activity compared to wild-type in cultured cells (PMID: 31757951).
PALB2 Y1064C missense no effect - predicted PALB2 Y1064C lies within WD repeat 5 of the Palb2 protein (UniProt.org). Y1064C results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type (PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 Y1183* nonsense loss of function PALB2 Y1183* results in a premature truncation of the Palb2 protein at amino acid 1183 of 1186 (UniProt.org). Y1183* confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability (PMID: 31757951), and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
PALB2 Y1183C missense unknown PALB2 Y1183C lies within WD repeat 7 of the Palb2 protein (UniProt.org). Y1183C does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown.
PALB2 Y28C missense unknown PALB2 Y28C lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). Y28C results in decreased Brca1 binding and Rad51 foci formation (PMID: 28319063, PMID: 31586400), and impaired homology-directed DNA repair activity in cultured cells in one study (PMID: 28319063, PMID: 31586400, PMID: 31757951), but results in intermediate homology-directed DNA repair in a reporter assay (PMID: 33964450), and rescues PARP inhibitor sensitivity in PALB2-null cells (PMID: 31586400), and therefore, its effect on Palb2 protein function is unknown.
PALB2 Y408H missense no effect - predicted PALB2 Y408H lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). Y408H results in DNA damage-induced cell cycle checkpoint maintenance similar to wild-type Palb2 (PMID: 31757951), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
PALB2 Y409* nonsense loss of function - predicted PALB2 Y409* results in a premature truncation of the Palb2 protein at amino acid 409 of 1186 (UniProt.org). Y409* results in protein expression similar to wild-type Palb2, however, demonstrates impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
PALB2 Y551* nonsense loss of function PALB2 Y551* results in a premature truncation of the Palb2 protein at amino acid 551 of 1186 (UniProt.org). Y551* confers a loss of function to the Palb2 protein as demonstrated by loss of Brca2 and Rad51c binding and reduced Rad51 binding in cultured cells (PMID: 24141787), and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 Q60Rfs*7 Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Q60Rfs*7 in culture (PMID: 31757951). 31757951
PALB2 Y409* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y409* in culture (PMID: 31757951). 31757951
PALB2 W1038* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 W1038* in culture (PMID: 31757951). 31757951
PALB2 Q988* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Q988* in culture (PMID: 31757951). 31757951
PALB2 S172fs Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 S172fs in culture (PMID: 31757951). 31757951
PALB2 Y551* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y551* in culture (PMID: 31757951). 31757951
PALB2 E669fs Advanced Solid Tumor predicted - sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 E669fs in culture (PMID: 31757951). 31757951
PALB2 Y1183* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 Y1183* in culture (PMID: 31757951). 31757951
PALB2 P1009Lfs*6 Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 P1009Lfs*6 in culture (PMID: 31757951). 31757951
PALB2 E230* Advanced Solid Tumor sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 E230* in culture (PMID: 31757951). 31757951
PALB2 C882fs Advanced Solid Tumor predicted - sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 C882fs in culture (PMID: 31757951). 31757951