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: N/A

PubMed Link: 36922933

Variant Present in the following documents:

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: N/A

PubMed Link: 33674644

Variant Present in the following documents:

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Investigation on the Role of PALB2 Gene in CDH1-Negative Patients With Hereditary Diffuse Gastric Cancer.

Clinical And Translational Gastroenterology

Carreño, Marta M; Pena-Couso, Laura L; Mercadillo, Fátima F; Perea, José J; Urioste, Miguel M

Publication Date: 2020-12

Variant appearance in text: PALB2: 1194G>A; V398V

PubMed Link: 33512806

Variant Present in the following documents:

• Main text
• ct9-11-e00280.pdf

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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports

Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M

Publication Date: 2019-12-27

Variant appearance in text: PALB2: 1194G>A; rs61755173

PubMed Link: 31882575

Variant Present in the following documents:

• 41598_2019_55515_MOESM1_ESM.pdf

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: PALB2: 1194G>A; rs61755173

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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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: rs61755173

PubMed Link: 28779002

Variant Present in the following documents:

• jmedgenet-2017-104588supp007.pdf
• jmedgenet-2017-104588supp005.pdf

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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: 1194G>A; Val398=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: PALB2: 1194G>A

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

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Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr

Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG

Publication Date: 2015-08-19

Variant appearance in text: rs61755173

PubMed Link: 26283626

Variant Present in the following documents:

• Main text
• 13058_2015_Article_627.pdf

View BVdb publication page

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Assessment of PALB2 as a candidate melanoma susceptibility gene.

Plos One

Aoude, Lauren G LG; Xu, Mai M; Zhao, Zhen Zhen ZZ; Kovacs, Michael M; Palmer, Jane M JM; Johansson, Peter P; Symmons, Judith J; Trent, Jeffrey M JM; Martin, Nicholas G NG; Montgomery, Grant W GW; Brown, Kevin M KM; Hayward, Nicholas K NK

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 24949998

Variant Present in the following documents:

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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Plos One

Blanco, Ana A; de la Hoya, Miguel M; Osorio, Ana A; Diez, Orland O; Miramar, María Dolores MD; Infante, Mar M; Martinez-Bouzas, Cristina C; Torres, Asunción A; Lasa, Adriana A; Llort, Gemma G; Brunet, Joan J; Graña, Begoña B; Perez Segura, Pedro P; Garcia, María José MJ; Gutiérrez-Enríquez, Sara S; Carracedo, Ángel Á; Tejada, María-Isabel MI; Velasco, Eladio A EA; Calvo, María-Teresa MT; Balmaña, Judith J; Benitez, Javier J; Caldés, Trinidad T; Vega, Ana A

Publication Date: 2013

Variant appearance in text: PALB2: 1194G>A; rs61755173

PubMed Link: 23935836

Variant Present in the following documents:

• Main text
• pone.0067538.pdf

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PALB2 mutations in familial breast and pancreatic cancer.

Familial Cancer

Hofstatter, Erin W EW; Domchek, Susan M SM; Miron, Alexander A; Garber, Judy J; Wang, Molin M; Componeschi, Kathryn K; Boghossian, Leigh L; Miron, Penelope L PL; Nathanson, Katherine L KL; Tung, Nadine N

Publication Date: 2011-06

Variant appearance in text: N/A

PubMed Link: 21365267

Variant Present in the following documents:

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Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer.

Gastroenterology

Tischkowitz, Marc D MD; Sabbaghian, Nelly N; Hamel, Nancy N; Borgida, Ayelet A; Rosner, Chaim C; Taherian, Nassim N; Srivastava, Archana A; Holter, Spring S; Rothenmund, Heidi H; Ghadirian, Parviz P; Foulkes, William D WD; Gallinger, Steven S

Publication Date: 2009-09

Variant appearance in text: PALB2: 1194G>A; V398V

PubMed Link: 19635604

Variant Present in the following documents:

• Main text

View BVdb publication page

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