PARP1 c.115G>A ;(p.V39M)

Variant ID: 1-226595516-C-T

NM_001618.3(PARP1):c.115G>A;(p.V39M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human metastatic cholangiocarcinoma patient-derived xenografts and tumoroids for preclinical drug evaluation.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Serra-Camprubí, Queralt Q; Verdaguer, Helena H; Oliveros, Winona W; Lupión-Garcia, Núria N; Llop-Guevara, Alba A; Molina, Cristina C; Vila-Casadesús, Maria M; Turpin, Anthony A; Neuzillet, Cindy C; Frigola, Joan J; Querol, Jessica J; Yáñez-Bartolomé, Mariana M; Castet, Florian F; Fabregat-Franco, Carles C; Escudero-Iriarte, Carmen C; Escorihuela, Marta M; Arenas, Enrique J EJ; Bernado-Morales, Cristina C; Haro, Noemí N; Giles, Francis J FJ; Pozo, Oscar J OJ; Miquel, Josep M JM; Nuciforo, Paolo G PG; Vivancos, Ana A; Melé, Marta M; Serra, Violeta V; Arribas, Joaquín J; Tabernero, Josep J; Peiró, Sandra S; Macarulla, Teresa T; Tian, Tian V TV
Publication Date: 2022-11-14

Variant appearance in text: PARP1: 115G>A; V39M
PubMed Link: 36374558
Variant Present in the following documents:
  • ccr-22-2551_supplementary_table_s4_suppts4.xlsx, sheet 11
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: PARP1: 115G>A; V39M
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics
Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P
Publication Date: 2021-05

Variant appearance in text: PARP1: V39M
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page