Publications:

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An explainable model of host genetic interactions linked to COVID-19 severity.

Communications Biology

Onoja, Anthony A; Picchiotti, Nicola N; Fallerini, Chiara C; Baldassarri, Margherita M; Fava, Francesca F; , ; Colombo, Francesca F; Chiaromonte, Francesca F; Renieri, Alessandra A; Furini, Simone S; Raimondi, Francesco F

Publication Date: 2022-10-26

Variant appearance in text: rs8053188

PubMed Link: 36289370

Variant Present in the following documents:

• 42003_2022_4073_MOESM4_ESM.xlsx, sheet 1

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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: -47G>A; rs8053188

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

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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: -47G>A; rs8053188

PubMed Link: 32756499

Variant Present in the following documents:

• cancers-12-02151-s001.pdf

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Meta-Analysis of Association between PALB2 Polymorphisms and Breast Cancer

Asian Pacific Journal Of Cancer Prevention : Apjcp

Dianatpour, Ali A; Faramarzi, Sepideh S; Ghafouri-Fard, Soudeh S

Publication Date: 2018-10-26

Variant appearance in text: rs8053188

PubMed Link: 30362319

Variant Present in the following documents:

• Main text

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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: -47G>A; rs8053188

PubMed Link: 30309218

Variant Present in the following documents:

• Main text
• crt-2018-356.pdf

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Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases.

Journal Of Translational Medicine

Hamdi, Yosr Y; Boujemaa, Maroua M; Ben Rekaya, Mariem M; Ben Hamda, Cherif C; Mighri, Najah N; El Benna, Houda H; Mejri, Nesrine N; Labidi, Soumaya S; Daoud, Nouha N; Naouali, Chokri C; Messaoud, Olfa O; Chargui, Mariem M; Ghedira, Kais K; Boubaker, Mohamed Samir MS; Mrad, Ridha R; Boussen, Hamouda H; Abdelhak, Sonia S; ,

Publication Date: 2018-06-07

Variant appearance in text: rs8053188

PubMed Link: 29879995

Variant Present in the following documents:

• Main text
• 12967_2018_Article_1504.pdf

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: PALB2: -47G>A; rs8053188

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs8053188

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1

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: rs8053188

PubMed Link: 23935836

Variant Present in the following documents:

• Main text

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No evidence for PALB2 methylation in high-grade serous ovarian cancer.

Journal Of Ovarian Research

Mikeska, Thomas T; Alsop, Kathryn K; , ; Mitchell, Gillian G; Bowtell, David Dl DD; Dobrovic, Alexander A

Publication Date: 2013-04-12

Variant appearance in text: rs8053188

PubMed Link: 23587053

Variant Present in the following documents:

• Main text

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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: -47G>A; rs8053188

PubMed Link: 23448497

Variant Present in the following documents:

• Main text
• bcr3392.pdf

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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: rs8053188

PubMed Link: 19635604

Variant Present in the following documents:

• Main text

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