PALB2 c.1882_1890del ;(p.K628_C630del)

Variant ID: 16-23641585-AGCAGGACTT-A

NM_024675.3(PALB2):c.1882_1890del;(p.K628_C630del)

This variant was identified in 7 publications

View GRCh38 version.



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

Publications:

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: PALB2: 1882_1890del; Lys628_Cys630del; rs587778583
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: 1882_1890delAAGTCCTGC; Lys628_Cys630del; rs587778583
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page


Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

The Lancet. Gastroenterology & Hepatology
Fewings, Eleanor E; Larionov, Alexey A; Redman, James J; Goldgraben, Mae A MA; Scarth, James J; Richardson, Susan S; Brewer, Carole C; Davidson, Rosemarie R; Ellis, Ian I; Evans, D Gareth DG; Halliday, Dorothy D; Izatt, Louise L; Marks, Peter P; McConnell, Vivienne V; Verbist, Louis L; Mayes, Rebecca R; Clark, Graeme R GR; Hadfield, James J; Chin, Suet-Feung SF; Teixeira, Manuel R MR; Giger, Olivier T OT; Hardwick, Richard R; di Pietro, Massimiliano M; O'Donovan, Maria M; Pharoah, Paul P; Caldas, Carlos C; Fitzgerald, Rebecca C RC; Tischkowitz, Marc M
Publication Date: 2018-07

Variant appearance in text: PALB2: 1882_1890delAAGTCCTGC
PubMed Link: 29706558
Variant Present in the following documents:
  • Main text
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: 1882_1890delAAGTCCTGC; Lys628_Cys630del; rs587778583
PubMed Link: 28779002
Variant Present in the following documents:
  • jmedgenet-2017-104588supp005.pdf
View BVdb publication page


Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Gastroenterology
Sahasrabudhe, Ruta R; Lott, Paul P; Bohorquez, Mabel M; Toal, Ted T; Estrada, Ana P AP; Suarez, John J JJ; Brea-Fernández, Alejandro A; Cameselle-Teijeiro, José J; Pinto, Carla C; Ramos, Irma I; Mantilla, Alejandra A; Prieto, Rodrigo R; Corvalan, Alejandro A; Norero, Enrique E; Alvarez, Carolina C; Tapia, Teresa T; Carvallo, Pilar P; Gonzalez, Luz M LM; Cock-Rada, Alicia A; Solano, Angela A; Neffa, Florencia F; Della Valle, Adriana A; Yau, Chris C; Soares, Gabriela G; Borowsky, Alexander A; Hu, Nan N; He, Li-Ji LJ; Han, Xiao-You XY; , ; Taylor, Philip R PR; Goldstein, Alisa M AM; Torres, Javier J; Echeverry, Magdalena M; Ruiz-Ponte, Clara C; Teixeira, Manuel R MR; Carvajal-Carmona, Luis G LG
Publication Date: 2017-04

Variant appearance in text: PALB2: Lys628_Cys630del
PubMed Link: 28024868
Variant Present in the following documents:
  • Main text
View BVdb publication page


Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget
Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M
Publication Date: 2016-05-10

Variant appearance in text: PALB2: 1882_1890del
PubMed Link: 27028851
Variant Present in the following documents:
  • oncotarget-07-27208-s001.pdf
View BVdb publication page


Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: PALB2: 1882_1890del
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page