PALB2 c.2578G>A ;(p.E860K)

Variant ID: 16-23640533-C-T

NM_024675.3(PALB2):c.2578G>A;(p.E860K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: PALB2: 2578G>A
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



Precision cancer genome testing needs proficiency testing involving all stakeholders.

Scientific Reports
Maekawa, Masato M; Taniguchi, Terumi T; Nishio, Kazuto K; Sakai, Kazuko K; Matsushita, Kazuyuki K; Nakatani, Kaname K; Ishige, Takayuki T; Ikejiri, Makoto M; Nishihara, Hiroshi H; Sunami, Kuniko K; Yatabe, Yasushi Y; Hatanaka, Kanako C KC; Hatanaka, Yutaka Y; Yamamoto, Yoshihiro Y; Fukuyama, Keita K; Oda, Shinya S; Saito, Kayoko K; Yokomura, Mamoru M; Kubo, Yuji Y; Sato, Hiroko H; Tanaka, Yoshinori Y; Fuchioka, Misa M; Yamasaki, Tadashi T; Matsuda, Koichiro K; Kurachi, Kiyotaka K; Funai, Kazuhiro K; Baba, Satoshi S; Iwaizumi, Moriya M
Publication Date: 2022-01-27

Variant appearance in text: PALB2: 2578G>A
PubMed Link: 35087199
Variant Present in the following documents:
  • 41598_2022_5589_MOESM1_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: PALB2: 2578G>A; E860K
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



The fate of BRCA1-related germline mutations in triple-negative breast tumors.

American Journal Of Cancer Research
Kotoula, Vassiliki V; Fostira, Florentia F; Papadopoulou, Kyriaki K; Apostolou, Paraskevi P; Tsolaki, Eleftheria E; Lazaridis, Georgios G; Manoussou, Kyriaki K; Zagouri, Flora F; Pectasides, Dimitrios D; Vlachos, Ioannis I; Tikas, Ioannis I; Lakis, Sotiris S; Konstantopoulou, Irene I; Pentheroudakis, George G; Gogas, Helen H; Papakostas, Pavlos P; Christodoulou, Christos C; Bafaloukos, Dimitrios D; Razis, Evangelia E; Karavasilis, Vasilios V; Bamias, Christina C; Yannoukakos, Drakoulis D; Fountzilas, George G
Publication Date: 2017

Variant appearance in text: PALB2: E860K
PubMed Link: 28123851
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis.

Plos Medicine
Lefebvre, Celine C; Bachelot, Thomas T; Filleron, Thomas T; Pedrero, Marion M; Campone, Mario M; Soria, Jean-Charles JC; Massard, Christophe C; Lévy, Christelle C; Arnedos, Monica M; Lacroix-Triki, Magali M; Garrabey, Julie J; Boursin, Yannick Y; Deloger, Marc M; Fu, Yu Y; Commo, Frédéric F; Scott, Véronique V; Lacroix, Ludovic L; Dieci, Maria Vittoria MV; Kamal, Maud M; Diéras, Véronique V; Gonçalves, Anthony A; Ferrerro, Jean-Marc JM; Romieu, Gilles G; Vanlemmens, Laurence L; Mouret Reynier, Marie-Ange MA; Théry, Jean-Christophe JC; Le Du, Fanny F; Guiu, Séverine S; Dalenc, Florence F; Clapisson, Gilles G; Bonnefoi, Hervé H; Jimenez, Marta M; Le Tourneau, Christophe C; André, Fabrice F
Publication Date: 2016-12

Variant appearance in text: PALB2: Glu860Lys
PubMed Link: 28027327
Variant Present in the following documents:
  • pmed.1002201.s012.xlsx, sheet 1
View BVdb publication page



Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports
Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK
Publication Date: 2014-11-14

Variant appearance in text: PALB2: E860K
PubMed Link: 25394353
Variant Present in the following documents:
  • srep07063-s2.xls, sheet 2
View BVdb publication page