Publications:

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Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology

Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M

Publication Date: 2022-12-02

Variant appearance in text: PALB2: T1100T

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: PALB2: T1100T; rs45516100

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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: Thr1100=; rs45516100

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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The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer

Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S

Publication Date: 2021-03

Variant appearance in text: PALB2: Thr1100Thr; rs45516100

PubMed Link: 33402737

Variant Present in the following documents:

• 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1

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: T1100T; rs45516100

PubMed Link: 32756499

Variant Present in the following documents:

• cancers-12-02151-s001.pdf

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs45516100

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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: T1100T; rs45516100

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: T1100T; rs45516100

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: rs45516100

PubMed Link: 28779002

Variant Present in the following documents:

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

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: N/A

PubMed Link: 28279176

Variant Present in the following documents:

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: N/A

PubMed Link: 27456059

Variant Present in the following documents:

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: rs45516100

PubMed Link: 26283626

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: N/A

PubMed Link: 25944692

Variant Present in the following documents:

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: PALB2: T1100T; rs45516100

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

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: Thr1100Thr; rs45516100

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: PALB2: T1100T; rs45516100

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

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: 3300T>G; T1100T; rs45516100

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: Thr1100Thr; rs45516100

PubMed Link: 24206657

Variant Present in the following documents:

• Main text
• 1755-8794-6-48.pdf

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: Thr1100Thr; rs45516100

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: N/A

PubMed Link: 21165770

Variant Present in the following documents:

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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A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

Bmc Medical Genetics

Dansonka-Mieszkowska, Agnieszka A; Kluska, Anna A; Moes, Joanna J; Dabrowska, Michalina M; Nowakowska, Dorota D; Niwinska, Anna A; Derlatka, Pawel P; Cendrowski, Krzysztof K; Kupryjanczyk, Jolanta J

Publication Date: 2010-02-02

Variant appearance in text: PALB2: T1100T; rs45516100

PubMed Link: 20122277

Variant Present in the following documents:

• Main text

View BVdb publication page

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PALB2 variants in hereditary and unselected Finnish prostate cancer cases.

Journal Of Negative Results In Biomedicine

Pakkanen, Sanna S; Wahlfors, Tiina T; Siltanen, Sanna S; Patrikainen, Mimmi M; Matikainen, Mika P MP; Tammela, Teuvo L J TL; Schleutker, Johanna J

Publication Date: 2009-12-15

Variant appearance in text: N/A

PubMed Link: 20003494

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: T1100T; rs45516100

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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Analysis of PALB2/FANCN-associated breast cancer families.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tischkowitz, Marc M; Xia, Bing B; Sabbaghian, Nelly N; Reis-Filho, Jorge S JS; Hamel, Nancy N; Li, Guilan G; van Beers, Erik H EH; Li, Lili L; Khalil, Tayma T; Quenneville, Louise A LA; Omeroglu, Atilla A; Poll, Aletta A; Lepage, Pierre P; Wong, Nora N; Nederlof, Petra M PM; Ashworth, Alan A; Tonin, Patricia N PN; Narod, Steven A SA; Livingston, David M DM; Foulkes, William D WD

Publication Date: 2007-04-17

Variant appearance in text: N/A

PubMed Link: 17420451

Variant Present in the following documents:

View BVdb publication page

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