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

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Genome Medicine

Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J

Publication Date: 2023-03-14

Variant appearance in text: PALB2: 2736G>A; Trp912Ter

PubMed Link: 36918911

Variant Present in the following documents:

• 13073_2023_1167_MOESM2_ESM.xlsx, sheet 1

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: PALB2: 2736G>A; Trp912*

PubMed Link: 33332384

Variant Present in the following documents:

• Main text
• pgen.1009231.pdf

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The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics

Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P

Publication Date: 2021-02

Variant appearance in text: PALB2: W912*

PubMed Link: 33222100

Variant Present in the following documents:

• 13353_2020_594_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: PALB2: Trp912Ter

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-s001.pdf

View BVdb publication page