Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: APC: 426_427del; Leu143fs; rs587782557

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APC: 426_427del; Leu143fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

International Journal Of Pediatrics

Charalsawadi, Chariyawan C; Trongnit, Sasipong S; Jaruthamsophon, Kanoot K; Wirojanan, Juthamas J; Jaruratanasirikul, Somchit S; Nitiruangjaras, Anupong A; Limprasert, Pornprot P

Publication Date: 2021

Variant appearance in text: APC: 426_427delAT

PubMed Link: 34956371

Variant Present in the following documents:

• 2612846.f1.pdf

View BVdb publication page

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Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis.

Cancer Genetics

Strobel, Katie M KM; Crane, Jacquelyn N JN; Bradford, Kathryn L KL; Naeini, Yalda Y; May, William A WA; Chang, Vivian Y VY

Publication Date: 2019-11

Variant appearance in text: APC: 426_427del; Leu143Alafs*4

PubMed Link: 31520998

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: APC: 426_427delAT; Leu143Alafs*4

PubMed Link: 30680046

Variant Present in the following documents:

• 13053_2018_102_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients.

Bmc Gastroenterology

Sample, Danielle C DC; Samadder, N Jewel NJ; Pappas, Lisa M LM; Boucher, Kenneth M KM; Samowitz, Wade S WS; Berry, Therese T; Westover, Michelle M; Nathan, Deepika D; Kanth, Priyanka P; Byrne, Kathryn R KR; Burt, Randall W RW; Neklason, Deborah W DW

Publication Date: 2018-07-16

Variant appearance in text: APC: 426_427delAT

PubMed Link: 30012100

Variant Present in the following documents:

• Main text
• 12876_2018_Article_841.pdf

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: APC: 426_427delAT; Leu143fs

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s8.xls, sheet 4

View BVdb publication page

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Chemoprevention with Cyclooxygenase and Epidermal Growth Factor Receptor Inhibitors in Familial Adenomatous Polyposis Patients: mRNA Signatures of Duodenal Neoplasia.

Cancer Prevention Research (Philadelphia, Pa.)

Delker, Don A DA; Wood, Austin C AC; Snow, Angela K AK; Samadder, N Jewel NJ; Samowitz, Wade S WS; Affolter, Kajsa E KE; Boucher, Kenneth M KM; Pappas, Lisa M LM; Stijleman, Inge J IJ; Kanth, Priyanka P; Byrne, Kathryn R KR; Burt, Randall W RW; Bernard, Philip S PS; Neklason, Deborah W DW

Publication Date: 2018-01

Variant appearance in text: APC: 426_427delAT

PubMed Link: 29109117

Variant Present in the following documents:

• Main text

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: APC: 426_427delAT; Leu143Alafs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

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

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: APC: 426_427delAT; Leu143AlafsX4

PubMed Link: 26681312

Variant Present in the following documents:

View BVdb publication page

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Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.

F1000Research

Kalbfleisch, Ted T; Brock, Pamela P; Snow, Angela A; Neklason, Deborah D; Gowans, Gordon G; Klein, Jon J

Publication Date: 2015

Variant appearance in text: APC: 426_427delAT

PubMed Link: 26213617

Variant Present in the following documents:

• Main text
• f1000research-4-7129.pdf

View BVdb publication page

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Assembly of a comprehensive regulatory network for the mammalian circadian clock: a bioinformatics approach.

Plos One

Lehmann, Robert R; Childs, Liam L; Thomas, Philippe P; Abreu, Monica M; Fuhr, Luise L; Herzel, Hanspeter H; Leser, Ulf U; Relógio, Angela A

Publication Date: 2015

Variant appearance in text: APC: 426_427delAT

PubMed Link: 25945798

Variant Present in the following documents:

• pone.0126283.s015.xls, sheet 4

View BVdb publication page

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Shared genomic segment analysis: the power to find rare disease variants.

Annals Of Human Genetics

Knight, Stacey S; Abo, Ryan P RP; Abel, Haley J HJ; Neklason, Deborah W DW; Tuohy, Therese M TM; Burt, Randall W RW; Thomas, Alun A; Camp, Nicola J NJ

Publication Date: 2012-11

Variant appearance in text: APC: 426_427delAT

PubMed Link: 22989048

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alterations of MEN1 and E-cadherin/β-catenin complex in sporadic pulmonary carcinoids.

International Journal Of Oncology

Veschi, Serena S; Lattanzio, Rossano R; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Magnasco, Salvatore S; Angelucci, Domenico D; Cama, Alessandro A; Piantelli, Mauro M; Battista, Pasquale P

Publication Date: 2012-10

Variant appearance in text: N/A

PubMed Link: 22825745

Variant Present in the following documents:

View BVdb publication page

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd

Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T

Publication Date: 2012-07

Variant appearance in text: APC: 426_427delAT; L143Afs

PubMed Link: 22658618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maximum-likelihood estimation of recent shared ancestry (ERSA).

Genome Research

Huff, Chad D CD; Witherspoon, David J DJ; Simonson, Tatum S TS; Xing, Jinchuan J; Watkins, W Scott WS; Zhang, Yuhua Y; Tuohy, Therese M TM; Neklason, Deborah W DW; Burt, Randall W RW; Guthery, Stephen L SL; Woodward, Scott R SR; Jorde, Lynn B LB

Publication Date: 2011-05

Variant appearance in text: APC: 426_427delAT

PubMed Link: 21324875

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allele-specific expression of APC in adenomatous polyposis families.

Gastroenterology

Castellsagué, Ester E; González, Sara S; Guinó, Elisabet E; Stevens, Kristen N KN; Borràs, Ester E; Raymond, Victoria M VM; Lázaro, Conxi C; Blanco, Ignacio I; Gruber, Stephen B SB; Capellá, Gabriel G

Publication Date: 2010-08

Variant appearance in text: APC: 426_427del; Leu143AlafsX4

PubMed Link: 20434453

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 426_427delAT

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

View BVdb publication page

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American founder mutation for attenuated familial adenomatous polyposis.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Neklason, Deborah W DW; Stevens, Jeffery J; Boucher, Kenneth M KM; Kerber, Richard A RA; Matsunami, Nori N; Barlow, Jahn J; Mineau, Geraldine G; Leppert, Mark F MF; Burt, Randall W RW

Publication Date: 2008-01

Variant appearance in text: APC: 426_427delAT

PubMed Link: 18063416

Variant Present in the following documents:

• Main text

View BVdb publication page

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