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: 424A>T; Lys142Ter; rs587782005

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: 424A>T; Lys142Ter

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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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: PALB2: 424A>T; Lys142Ter; rs587782005

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 1

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: 424A>T; Lys142Ter; rs587782005

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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A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Rotunno, Melissa M; Barajas, Rolando R; Clyne, Mindy M; Hoover, Elise E; Simonds, Naoko I NI; Lam, Tram Kim TK; Mechanic, Leah E LE; Goldstein, Alisa M AM; Gillanders, Elizabeth M EM

Publication Date: 2020-08

Variant appearance in text: PALB2: 424A>T; K142*

PubMed Link: 32467344

Variant Present in the following documents:

• Main text

View BVdb publication page

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OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports

López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E

Publication Date: 2020-03-24

Variant appearance in text: PALB2: K142*

PubMed Link: 32210335

Variant Present in the following documents:

• 41598_2020_62279_MOESM2_ESM.xlsx, sheet 34

View BVdb publication page

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Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Npj Breast Cancer

Li, Anqi A; Geyer, Felipe C FC; Blecua, Pedro P; Lee, Ju Youn JY; Selenica, Pier P; Brown, David N DN; Pareja, Fresia F; Lee, Simon S K SSK; Kumar, Rahul R; Rivera, Barbara B; Bi, Rui R; Piscuoglio, Salvatore S; Wen, Hannah Y HY; Lozada, John R JR; Gularte-Mérida, Rodrigo R; Cavallone, Luca L; , ; Rezoug, Zoulikha Z; Nguyen-Dumont, Tu T; Peterlongo, Paolo P; Tondini, Carlo C; Terkelsen, Thorkild T; Rønlund, Karina K; Boonen, Susanne E SE; Mannerma, Arto A; Winqvist, Robert R; Janatova, Marketa M; Rajadurai, Pathmanathan P; Xia, Bing B; Norton, Larry L; Robson, Mark E ME; Ng, Pei-Sze PS; Looi, Lai-Meng LM; Southey, Melissa C MC; Weigelt, Britta B; Soo-Hwang, Teo T; Tischkowitz, Marc M; Foulkes, William D WD; Reis-Filho, Jorge S JS

Publication Date: 2019

Variant appearance in text: PALB2: 424A>T; Lys142*

PubMed Link: 31428676

Variant Present in the following documents:

• Main text
• 41523_2019_Article_115.pdf

View BVdb publication page

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Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.

Journal Of Medical Genetics

Decker, Brennan B; Allen, Jamie J; Luccarini, Craig C; Pooley, Karen A KA; Shah, Mitul M; Bolla, Manjeet K MK; Wang, Qin Q; Ahmed, Shahana S; Baynes, Caroline C; Conroy, Don M DM; Brown, Judith J; Luben, Robert R; Ostrander, Elaine A EA; Pharoah, Paul Dp PD; Dunning, Alison M AM; Easton, Douglas F DF

Publication Date: 2017-11

Variant appearance in text: PALB2: 424A>T; Lys142Ter; rs587782005

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp005.pdf

View BVdb publication page

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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: 424A>T; K142*

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

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OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis.

Scientific Reports

Ruark, Elise E; Münz, Márton M; Clarke, Matthew M; Renwick, Anthony A; Ramsay, Emma E; Elliott, Anna A; Seal, Sheila S; Lunter, Gerton G; Rahman, Nazneen N

Publication Date: 2016-08-03

Variant appearance in text: PALB2: 424A>T; Lys142X

PubMed Link: 27485037

Variant Present in the following documents:

• srep31029-s2.xls, sheet 2

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: PALB2: K142*

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s4.xlsx, sheet 1

View BVdb publication page

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