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: 3201+1G>T; rs587776423

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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: 3201+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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:

PubMed Link: 29706558

Variant Present in the following documents:

• Main text

View BVdb publication page

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: PALB2: 3201+1G>T

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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: 3201+1G>T

PubMed Link: 28024868

Variant Present in the following documents:

• Main text

View BVdb publication page