Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: PALB2: S524S

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 2
• ol-25-02-13637.pdf

View BVdb publication page

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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: PALB2: 1572A>G; Ser524=; rs45472400

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Cancers

Velázquez, Carolina C; K, De Leeneer L; Esteban-Cardeñosa, Eva M EM; Avila Cobos, Francisco F; Lastra, Enrique E; Abella, Luis E LE; de la Cruz, Virginia V; Lobatón, Carmen D CD; Claes, Kathleen B KB; Durán, Mercedes M; Infante, Mar M

Publication Date: 2020-08-03

Variant appearance in text: PALB2: 1572A>G; S524S; rs45472400

PubMed Link: 32756499

Variant Present in the following documents:

• cancers-12-02151-s001.pdf

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: PALB2: 1572A>G; S524S; rs45472400

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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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: 1572A>G; rs45472400

PubMed Link: 31882575

Variant Present in the following documents:

• 41598_2019_55515_MOESM1_ESM.pdf

View BVdb publication page

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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: 1572A>G; rs45472400

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: PALB2: S524S

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 30

View BVdb publication page

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Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.

Cancer Research And Treatment

Rashid, Muhammad Usman MU; Khan, Faiz Ali FA; Muhammad, Noor N; Loya, Asif A; Hamann, Ute U

Publication Date: 2019-07

Variant appearance in text: PALB2: 1572A>G; S524S; rs45472400

PubMed Link: 30309218

Variant Present in the following documents:

• Main text
• crt-2018-356.pdf

View BVdb publication page

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Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine.

Familial Cancer

Myszka, Aleksander A; Nguyen-Dumont, Tu T; Karpinski, Pawel P; Sasiadek, Maria M MM; Akopyan, Hayane H; Hammet, Fleur F; Tsimiklis, Helen H; Park, Daniel J DJ; Pope, Bernard J BJ; Slezak, Ryszard R; Kitsera, Nataliya N; Siekierzynska, Aleksandra A; Southey, Melissa C MC

Publication Date: 2018-07

Variant appearance in text: PALB2: S524S; rs45472400

PubMed Link: 29052111

Variant Present in the following documents:

• Main text
• 10689_2017_Article_50.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: rs45472400

PubMed Link: 28779002

Variant Present in the following documents:

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

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: 1572A>G; Ser524=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland.

Bmc Medical Genomics

Kluska, Anna A; Balabas, Aneta A; Piatkowska, Magdalena M; Czarny, Katarzyna K; Paczkowska, Katarzyna K; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2017-03-09

Variant appearance in text: PALB2: 1572A>G; Ser524Ser

PubMed Link: 28279176

Variant Present in the following documents:

• Main text
• 12920_2017_Article_251.pdf

View BVdb publication page

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: PALB2: 1572A>G; Ser524=; rs45472400

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM13_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs45472400

PubMed Link: 26283626

Variant Present in the following documents:

• Main text
• 13058_2015_Article_627.pdf

View BVdb publication page

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Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.

Analytical Biochemistry

Nguyen-Dumont, T T; Mahmoodi, M M; Hammet, F F; Tran, T T; Tsimiklis, H H; , ; Giles, G G GG; Hopper, J L JL; , ; Southey, M C MC; Park, D J DJ

Publication Date: 2015-02-01

Variant appearance in text: PALB2: 1572A>G; Ser524Ser; rs45472400

PubMed Link: 25447460

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: PALB2: S524S; rs45472400

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: PALB2: S524S; rs45472400

PubMed Link: 24949998

Variant Present in the following documents:

• Main text
• pone.0100683.pdf

View BVdb publication page

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Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2.

Bmc Medical Genomics

Nguyen-Dumont, Tú T; Teo, Zhi L ZL; Pope, Bernard J BJ; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Sabbaghian, Nelly N; Tischkowitz, Marc M; Foulkes, William D WD; , ; Giles, Graham G GG; Hopper, John L JL; , ; Southey, Melissa C MC; Park, Daniel J DJ

Publication Date: 2013-11-08

Variant appearance in text: PALB2: 1572A>G; Ser524Ser; rs45472400

PubMed Link: 24206657

Variant Present in the following documents:

• Main text
• 1755-8794-6-48.pdf

View BVdb publication page

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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: 1572A>G; rs45472400

PubMed Link: 23935836

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families.

Breast Cancer Research : Bcr

Teo, Zhi L ZL; Park, Daniel J DJ; Provenzano, Elena E; Chatfield, Catherine A CA; Odefrey, Fabrice A FA; Nguyen-Dumont, Tu T; , ; Dowty, James G JG; Hopper, John L JL; Winship, Ingrid I; Goldgar, David E DE; Southey, Melissa C MC

Publication Date: 2013-02-28

Variant appearance in text: PALB2: 1572A>G; Ser524Ser; rs45472400

PubMed Link: 23448497

Variant Present in the following documents:

• Main text
• bcr3392.pdf

View BVdb publication page

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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:

View BVdb publication page

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PALB2 mutations in German and Russian patients with bilateral breast cancer.

Breast Cancer Research And Treatment

Bogdanova, Natalia N; Sokolenko, Anna P AP; Iyevleva, Aglaya G AG; Abysheva, Svetlana N SN; Blaut, Magda M; Bremer, Michael M; Christiansen, Hans H; Rave-Fränk, Margret M; Dörk, Thilo T; Imyanitov, Evgeny N EN

Publication Date: 2011-04

Variant appearance in text: PALB2: S524S; rs45472400

PubMed Link: 21165770

Variant Present in the following documents:

• Main text
• 10549_2010_Article_1290.pdf

View BVdb publication page

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Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

Breast Cancer Research And Treatment

Ding, Yuan Chun YC; Steele, Linda L; Kuan, Chih-Jen CJ; Greilac, Scott S; Neuhausen, Susan L SL

Publication Date: 2011-04

Variant appearance in text: N/A

PubMed Link: 20927582

Variant Present in the following documents:

View BVdb publication page

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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: 1572A>G; S524S; rs45472400

PubMed Link: 19635604

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer.

The Prostate

Tischkowitz, Marc M; Sabbaghian, Nelly N; Ray, Anna M AM; Lange, Ethan M EM; Foulkes, William D WD; Cooney, Kathleen A KA

Publication Date: 2008-05-01

Variant appearance in text: N/A

PubMed Link: 18288683

Variant Present in the following documents:

View BVdb publication page

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