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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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