PALB2 c.1419A>C ;(p.P473=)

Variant ID: 16-23646448-T-G

NM_024675.3(PALB2):c.1419A>C;(p.P473=)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Gene panel screening for insight towards breast cancer susceptibility in different ethnicities.

Plos One
Bishop, Madison R MR; Omeler-Fenaud, Sophonie M SM; Huskey, Anna L W ALW; Merner, Nancy D ND
Publication Date: 2020

Variant appearance in text: PALB2: P473P
PubMed Link: 32866190
Variant Present in the following documents:
  • pone.0238295.s002.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: PALB2: 1419A>C; rs62625275
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.

Plos One
Bishop, Madison R MR; Huskey, Anna L W ALW; Hetzel, John J; Merner, Nancy D ND
Publication Date: 2019

Variant appearance in text: PALB2: 1419A>C; P473P
PubMed Link: 31415627
Variant Present in the following documents:
  • Main text
  • pone.0220929.pdf
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: 1419A>C; Pro473=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Germline mutations in PALB2 in African-American breast cancer cases.

Breast Cancer Research And Treatment
Ding, Yuan Chun YC; Steele, Linda L; Chu, Li-Hao LH; Kelley, Karen K; Davis, Helen H; John, Esther M EM; Tomlinson, Gail E GE; Neuhausen, Susan L SL
Publication Date: 2011-02

Variant appearance in text: PALB2: P473P
PubMed Link: 21113654
Variant Present in the following documents:
  • Main text
View BVdb publication page