Publications:

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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: PALB2: 697delG; rs180177090

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 697del; Val233fs

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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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: 697delG; Val233Leufs; rs180177090

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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Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.

Jama Network Open

Lincoln, Stephen E SE; Nussbaum, Robert L RL; Kurian, Allison W AW; Nielsen, Sarah M SM; Das, Kingshuk K; Michalski, Scott S; Yang, Shan S; Ngo, Nhu N; Blanco, Amie A; Esplin, Edward D ED

Publication Date: 2020-10-01

Variant appearance in text: PALB2: 697del; Val233Leufs*5

PubMed Link: 33026450

Variant Present in the following documents:

• jamanetwopen-e2019452-s001.pdf

View BVdb publication page

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Genetics of breast cancer in African populations: a literature review.

Global Health, Epidemiology And Genomics

Abbad, A A; Baba, H H; Dehbi, H H; Elmessaoudi-Idrissi, M M; Elyazghi, Z Z; Abidi, O O; Radouani, F F

Publication Date: 2018

Variant appearance in text: PALB2: 697delG

PubMed Link: 30263132

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 697delG; Val233Leufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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PALB2 and breast cancer: ready for clinical translation!

The Application Of Clinical Genetics

Southey, Melissa C MC; Teo, Zhi L ZL; Winship, Ingrid I

Publication Date: 2013

Variant appearance in text: PALB2: 697delG; Val233fs*5

PubMed Link: 23935381

Variant Present in the following documents:

• Main text
• tacg-6-043.pdf

View BVdb publication page

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Novel germline PALB2 truncating mutations in African American breast cancer patients.

Cancer

Zheng, Yonglan Y; Zhang, Jing J; Niu, Qun Q; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2012-03-01

Variant appearance in text: PALB2: 697delG

PubMed Link: 21932393

Variant Present in the following documents:

• Main text

View BVdb publication page

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