Publications:

---

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: TP53: 1100+30A>T; rs17880847

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

---

Genotyping data of routinely processed matched primary/metastatic tumor samples.

Data In Brief

Kotoula, Vassiliki V; Chatzopoulos, Kyriakos K; Papadopoulou, Kyriaki K; Giannoulatou, Eleni E; Koliou, Georgia-Angeliki GA; Karavasilis, Vasilios V; Pazarli, Elissavet E; Pervana, Stavroula S; Kafiri, Georgia G; Tsoulfas, Georgios G; Chrisafi, Sofia S; Sgouramali, Helen H; Papakostas, Pavlos P; Pectasides, Dimitrios D; Hytiroglou, Prodromos P; Pentheroudakis, George G; Fountzilas, George G

Publication Date: 2021-02

Variant appearance in text: rs17880847

PubMed Link: 33365374

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

---

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs17880847

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs17880847

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Prevalence of germline TP53 variants among early-onset breast cancer patients from Polish population.

Breast Cancer (Tokyo, Japan)

Rogoża-Janiszewska, Emilia E; Malińska, Karolina K; Górski, Bohdan B; Scott, Rodney J RJ; Cybulski, Cezary C; Kluźniak, Wojciech W; Lener, Marcin M; Jakubowska, Anna A; Gronwald, Jacek J; Huzarski, Tomasz T; Lubiński, Jan J; Dębniak, Tadeusz T

Publication Date: 2021-01

Variant appearance in text: rs17880847

PubMed Link: 32888145

Variant Present in the following documents:

• Main text
• 12282_2020_Article_1151.pdf

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs17880847

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

Genetic and transcriptional evolution alters cancer cell line drug response.

Nature

Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR

Publication Date: 2018-08

Variant appearance in text: TP53: 1100+30A>T; rs17880847

PubMed Link: 30089904

Variant Present in the following documents:

• NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1

View BVdb publication page

---

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: rs17880847

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

View BVdb publication page

---

The role of the p53 tumor suppressor in metabolism and diabetes.

The Journal Of Endocrinology

Kung, Che-Pei CP; Murphy, Maureen E ME

Publication Date: 2016-11

Variant appearance in text: rs17880847

PubMed Link: 27613337

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline TP53 mutational spectrum in French Canadians with breast cancer.

Bmc Medical Genetics

Arcand, Suzanna L SL; Akbari, Mohammed R MR; Mes-Masson, Anne-Marie AM; Provencher, Diane D; Foulkes, William D WD; Narod, Steven A SA; Tonin, Patricia N PN

Publication Date: 2015-04-12

Variant appearance in text: TP53: 1100+30A>T; rs17880847

PubMed Link: 25925845

Variant Present in the following documents:

• Main text
• 12881_2015_Article_169.pdf

View BVdb publication page

---

Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: rs17880847

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

---

P53 and expression of immunological markers may identify early stage thyroid tumors.

Clinical & Developmental Immunology

Marcello, Marjory Alana MA; Morari, Elaine Cristina EC; Cunha, Lucas Leite LL; De Nadai Silva, Aline Carolina AC; Carraro, Dirce Maria DM; Carvalho, André Lopes AL; Soares, Fernando Augusto FA; Vassallo, José J; Ward, Laura Sterian LS

Publication Date: 2013

Variant appearance in text: rs17880847

PubMed Link: 24171036

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assessment of TP53 mutations in benign and malignant salivary gland neoplasms.

Plos One

Gomes, Carolina Cavaliéri CC; Diniz, Marina Gonçalves MG; Orsine, Lissur Azevedo LA; Duarte, Alessandra Pires AP; Fonseca-Silva, Thiago T; Conn, Brendan I BI; De Marco, Luiz L; Pereira, Cláudia Maria CM; Gomez, Ricardo Santiago RS

Publication Date: 2012

Variant appearance in text: rs17880847

PubMed Link: 22829934

Variant Present in the following documents:

• Main text
• pone.0041261.pdf

View BVdb publication page

---

Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs17880847

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

---

Quantification of rare allelic variants from pooled genomic DNA.

Nature Methods

Druley, Todd E TE; Vallania, Francesco L M FL; Wegner, Daniel J DJ; Varley, Katherine E KE; Knowles, Olivia L OL; Bonds, Jacqueline A JA; Robison, Sarah W SW; Doniger, Scott W SW; Hamvas, Aaron A; Cole, F Sessions FS; Fay, Justin C JC; Mitra, Robi D RD

Publication Date: 2009-04

Variant appearance in text: rs17880847

PubMed Link: 19252504

Variant Present in the following documents:

• NIHMS92733-supplement-1.pdf

View BVdb publication page

---