Publications:

---

Metastatic colorectal cancer treatment response evaluation by ultra-deep sequencing of cell-free DNA and matched white blood cells.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

van 't Erve, Iris I; Medina, Jamie E JE; Leal, Alessandro A; Papp, Eniko E; Phallen, Jillian J; Adleff, Vilmos V; Chiao, Elaine Jiayuee EJ; Arun, Adith S AS; Bolhuis, Karen K; Simmons, John K JK; Karandikar, Aanavi A; Valkenburg, Kenneth C KC; Sausen, Mark M; Angiuoli, Samuel V SV; Scharpf, Robert B RB; Punt, Cornelis J A CJA; Meijer, Gerrit A GA; Velculescu, Victor E VE; Fijneman, Remond J A RJA

Publication Date: 2022-12-19

Variant appearance in text: RET: T1038A

PubMed Link: 36534496

Variant Present in the following documents:

• ccr-22-2538_supplementary_tables_s1-s15_suppts1-ts15.xlsx, sheet 7

View BVdb publication page

---

Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: RET: 3112A>G; rs201740483

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

---

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine

Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP

Publication Date: 2022-06

Variant appearance in text: RET: 3112A>G; Thr1038Ala

PubMed Link: 35617825

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Desmoid fibromatosis in the pharyngeal wall: A case report and literature review.

Clinical Case Reports

Geisenhainer, Katharina K; Klenke, Daniela D; Moser, Norman N; Kurbad, Oliver O; Bremmer, Felix F; Kauffmann, Philipp P; Schliephake, Henning H; Brockmeyer, Phillipp P

Publication Date: 2022-01

Variant appearance in text: RET: T1038A

PubMed Link: 35028152

Variant Present in the following documents:

• Main text
• CCR3-10-e05268.pdf

View BVdb publication page

---

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology

Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J

Publication Date: 2021

Variant appearance in text: RET: T1038A

PubMed Link: 34367342

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1

View BVdb publication page

---

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: RET: 3112A>G; Thr1038Ala; rs201740483

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

---

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Scientific Reports

Trautmann, Marcel M; Rehkämper, Jan J; Gevensleben, Heidrun H; Becker, Jessica J; Wardelmann, Eva E; Hartmann, Wolfgang W; Grünewald, Inga I; Huss, Sebastian S

Publication Date: 2020-02-25

Variant appearance in text: RET: T1038A

PubMed Link: 32099073

Variant Present in the following documents:

• Main text
• 41598_2020_Article_60237.pdf
• 41598_2020_60237_MOESM1_ESM.pdf

View BVdb publication page

---

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: RET: T1038A; rs201740483

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: RET: 3112A>G; T1038A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: RET: T1038A

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 52

View BVdb publication page

---

Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine

Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM

Publication Date: 2019-05-28

Variant appearance in text: RET: 3112A>G; T1038A

PubMed Link: 31133068

Variant Present in the following documents:

• 13073_2019_644_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: RET: 3112A>G; Thr1038Ala

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice

Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S

Publication Date: 2019

Variant appearance in text: RET: 3112A>G; Thr1038Ala

PubMed Link: 30680046

Variant Present in the following documents:

• 13053_2018_102_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Genome Medicine

Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR

Publication Date: 2018-12-24

Variant appearance in text: RET: 3112A>G; Thr1038Ala; rs201740483

PubMed Link: 30583724

Variant Present in the following documents:

• 13073_2018_607_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: RET: T1038A

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s009.xlsx, sheet 1
• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

---

Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: RET: T1038A

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

---

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: RET: 3112A>G; Thr1038Ala; rs201740483

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

---

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs201740483

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: RET: T1038A

PubMed Link: 29263839

Variant Present in the following documents:

• Main text
• 41525_2017_Article_32.pdf

View BVdb publication page

---

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: RET: 3112A>G; Thr1038Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: RET: T1038A; rs201740483

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Nature Communications

Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D

Publication Date: 2015-12-03

Variant appearance in text: RET: T1038A

PubMed Link: 26632267

Variant Present in the following documents:

• ncomms9940-s1.pdf

View BVdb publication page

---

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney International

Hwang, Daw-Yang DY; Dworschak, Gabriel C GC; Kohl, Stefan S; Saisawat, Pawaree P; Vivante, Asaf A; Hilger, Alina C AC; Reutter, Heiko M HM; Soliman, Neveen A NA; Bogdanovic, Radovan R; Kehinde, Elijah O EO; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2014-06

Variant appearance in text: RET: 3112A>G; T1038A

PubMed Link: 24429398

Variant Present in the following documents:

• NIHMS543078-supplement-supplement_1.pdf

View BVdb publication page

---