Publications:

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Germline multigene panel testing of patients with endometrial cancer.

Oncology Letters

Kral, Jan J; Jelinkova, Sandra S; Zemankova, Petra P; Vocka, Michal M; Borecka, Marianna M; Cerna, Leona L; Cerna, Marta M; Dostalek, Lukas L; Duskova, Petra P; Foretova, Lenka L; Havranek, Ondrej O; Horackova, Klara K; Hovhannisyan, Milena M; Chvojka, Stepan S; Kalousova, Marta M; Kosarova, Marcela M; Koudova, Monika M; Krutilkova, Vera V; Machackova, Eva E; Nehasil, Petr P; Novotny, Jan J; Otahalova, Barbora B; Puchmajerova, Alena A; Safarikova, Marketa M; Slama, Jiri J; Stranecky, Viktor V; Subrt, Ivan I; Tavandzis, Spiros S; Zikan, Michal M; Zima, Tomas T; Soukupova, Jana J; Kleiblova, Petra P; Kleibl, Zdenek Z; Janatova, Marketa M

Publication Date: 2023-06

Variant appearance in text: PALB2: 761C>G; Ser254Ter

PubMed Link: 37153042

Variant Present in the following documents:

• Supplementary_Data.pdf

View BVdb publication page

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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

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PALB2: 761C>G; Ser254Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

Npj Precision Oncology

de Bitter, Tessa J J TJJ; de Reuver, Philip R PR; de Savornin Lohman, Elise A J EAJ; Kroeze, Leonie I LI; Vink-Börger, Marianne E ME; van Vliet, Shannon S; Simmer, Femke F; von Rhein, Daniel D; Jansen, Erik A M EAM; Verheij, Joanne J; van Herpen, Carla M L CML; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; van der Post, Rachel S RS

Publication Date: 2022-11-05

Variant appearance in text: PALB2: 761C>G; Ser254Ter

PubMed Link: 36335173

Variant Present in the following documents:

• 41698_2022_327_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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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: 761C>G; S254X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Granular cell astrocytoma: an aggressive IDH-wildtype diffuse glioma with molecular genetic features of primary glioblastoma.

Brain Pathology (Zurich, Switzerland)

Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Yuan, Ming M; Giannini, Caterina C; Cabrera-Aldana, Eibar Ernesto EE; Pallavajjala, Aparna A; Burger, Peter C PC; Rodriguez, Fausto J FJ

Publication Date: 2019-03

Variant appearance in text: PALB2: S254X

PubMed Link: 30222900

Variant Present in the following documents:

• Main text

View BVdb publication page

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