PALB2 c.1470C>T ;(p.P490=)

Variant ID: 16-23646397-G-A

NM_024675.3(PALB2):c.1470C>T;(p.P490=)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: N/A
PubMed Link: 35246724
Variant Present in the following documents:
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: PALB2: P490P
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 20
View BVdb publication page



Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics
Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF
Publication Date: 2017-11

Variant appearance in text: PALB2: 1470C>T; rs45612837
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page



Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06

Variant appearance in text: N/A
PubMed Link: 28683746
Variant Present in the following documents:
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PALB2: 1470C>T; Pro490=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19

Variant appearance in text: rs45612837
PubMed Link: 26283626
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_627.pdf
View BVdb publication page



Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.

Analytical Biochemistry
Nguyen-Dumont, T T; Mahmoodi, M M; Hammet, F F; Tran, T T; Tsimiklis, H H; , ; Giles, G G GG; Hopper, J L JL; , ; Southey, M C MC; Park, D J DJ
Publication Date: 2015-02-01

Variant appearance in text: N/A
PubMed Link: 25447460
Variant Present in the following documents:
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25032700
Variant Present in the following documents:
View BVdb publication page



Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Bmc Medical Genomics
Nguyen-Dumont, Tú T; Teo, Zhi L ZL; Pope, Bernard J BJ; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Sabbaghian, Nelly N; Tischkowitz, Marc M; Foulkes, William D WD; , ; Giles, Graham G GG; Hopper, John L JL; , ; Southey, Melissa C MC; Park, Daniel J DJ
Publication Date: 2013-11-08

Variant appearance in text: N/A
PubMed Link: 24206657
Variant Present in the following documents:
View BVdb publication page



Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Breast Cancer Research : Bcr
Teo, Zhi L ZL; Park, Daniel J DJ; Provenzano, Elena E; Chatfield, Catherine A CA; Odefrey, Fabrice A FA; Nguyen-Dumont, Tu T; , ; Dowty, James G JG; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Southey, Melissa C MC
Publication Date: 2013-02-28

Variant appearance in text: N/A
PubMed Link: 23448497
Variant Present in the following documents:
View BVdb publication page



PALB2 mutations in German and Russian patients with bilateral breast cancer.

Breast Cancer Research And Treatment
Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN
Publication Date: 2011-04

Variant appearance in text: N/A
PubMed Link: 21165770
Variant Present in the following documents:
View BVdb publication page