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: 494G>A; Gly165Asp; rs1567222798

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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Branching clonal evolution patterns predominate mutational landscape in multiple myeloma.

American Journal Of Cancer Research

Farswan, Akanksha A; Jena, Lingaraja L; Kaur, Gurvinder G; Gupta, Anubha A; Gupta, Ritu R; Rani, Lata L; Sharma, Atul A; Kumar, Lalit L

Publication Date: 2021

Variant appearance in text: PALB2: 494G>A

PubMed Link: 34873486

Variant Present in the following documents:

• Main text

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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: 494G>A; Gly165Asp

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: PALB2: 494G>A

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

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Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

American Journal Of Human Genetics

Hartmann, Linda L; Neveling, Kornelia K; Borkens, Stephanie S; Schneider, Hildegard H; Freund, Marcel M; Grassman, Elke E; Theiss, Stephan S; Wawer, Angela A; Burdach, Stefan S; Auerbach, Arleen D AD; Schindler, Detlev D; Hanenberg, Helmut H; Schaal, Heiner H

Publication Date: 2010-10-08

Variant appearance in text: FANCN: 494G>A

PubMed Link: 20869034

Variant Present in the following documents:

• Main text

View BVdb publication page