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: 2753C>A; P918Q; rs587780822

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine.

Genes & Diseases

Cerrato-Izaguirre, Dennis D; Chirino, Yolanda I YI; García-Cuellar, Claudia M CM; Santibáñez-Andrade, Miguel M; Prada, Diddier D; Hernández-Guerrero, Angélica A; Larraga, Octavio Alonso OA; Camacho, Javier J; Sánchez-Pérez, Yesennia Y

Publication Date: 2022-07

Variant appearance in text: PALB2: 2753C>A

PubMed Link: 35685475

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

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: 2753C>A; Pro918Gln; rs587780822

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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: PALB2: Pro918Gln

PubMed Link: 29706558

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PALB2: 2753C>A; Pro918Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 2753C>A; Pro918Gln

PubMed Link: 28024868

Variant Present in the following documents:

• Main text

View BVdb publication page

---