PALB2 c.18G>T ;(p.G6=)

Variant ID: 16-23652461-C-A

NM_024675.3(PALB2):c.18G>T;(p.G6=)

This variant was identified in 4 publications

View GRCh38 version.




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: N/A
PubMed Link: 36922933
Variant Present in the following documents:
View BVdb publication page



Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant.

Npj Breast Cancer
Kuemmel, Sherko S; Harrach, Hakima H; Schmutzler, Rita K RK; Kostara, Athina A; Ziegler-Löhr, Katja K; Dyson, Mark H MH; Chiari, Ouafaa O; Reinisch, Mattea M
Publication Date: 2020

Variant appearance in text: PALB2: 18G>T
PubMed Link: 32728620
Variant Present in the following documents:
  • Main text
  • 41523_2020_Article_174.pdf
View BVdb publication page



A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers.

Breast Cancer Research And Treatment
Yang, Ciyu C; Ceyhan-Birsoy, Ozge O; Mandelker, Diana D; Jairam, Sowmya S; Catchings, Amanda A; O'Reilly, Eileen M EM; Walsh, Michael F MF; Zhang, Liying L
Publication Date: 2019-01

Variant appearance in text: PALB2: 18G>T; Gly6=
PubMed Link: 30255452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Spatiotemporal dynamics of homologous recombination repair at single collapsed replication forks.

Nature Communications
Whelan, Donna R DR; Lee, Wei Ting C WTC; Yin, Yandong Y; Ofri, Dylan M DM; Bermudez-Hernandez, Keria K; Keegan, Sarah S; Fenyo, David D; Rothenberg, Eli E
Publication Date: 2018-09-24

Variant appearance in text: PALB2: G6=
PubMed Link: 30250272
Variant Present in the following documents:
  • 41467_2018_6435_MOESM2_ESM.pdf
View BVdb publication page