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: PMS2: 86G>C; G29A; rs146176004

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: PMS2: G29A

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Transferrin Receptor-Mediated Iron Uptake Promotes Colon Tumorigenesis.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Hyeoncheol H; Villareal, Luke B LB; Liu, Zhaoli Z; Haneef, Mohammad M; Falcon, Daniel M DM; Martin, David R DR; Lee, Ho-Joon HJ; Dame, Michael K MK; Attili, Durga D; Chen, Ying Y; Varani, James J; Spence, Jason R JR; Kovbasnjuk, Olga O; Colacino, Justin A JA; Lyssiotis, Costas A CA; Lin, Henry C HC; Shah, Yatrik M YM; Xue, Xiang X

Publication Date: 2023-01-26

Variant appearance in text: PMS2: Gly29Ala

PubMed Link: 36703617

Variant Present in the following documents:

• ADVS-10-2207693.pdf

View BVdb publication page

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: PMS2: Gly29Ala; rs146176004

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: HNPCC4: G29A

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer.

Jco Precision Oncology

Bradbury, Angela R AR; Patrick-Miller, Linda L; Egleston, Brian L BL; Maxwell, Kara N KN; DiGiovanni, Laura L; Brower, Jamie J; Fetzer, Dominique D; Bennett Gaieski, Jill J; Brandt, Amanda A; McKenna, Danielle D; Long, Jessica J; Powers, Jacquelyn J; Stopfer, Jill E JE; Nathanson, Katherine L KL; Domchek, Susan M SM

Publication Date: 2018

Variant appearance in text: PMS2: 86G>C; G29A

PubMed Link: 32095738

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: PMS2: G29A; rs146176004

PubMed Link: 31613886

Variant Present in the following documents:

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

View BVdb publication page

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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: PMS2: 86G>C; G29A

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: PMS2: 86G>C; Gly29Ala

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: PMS2: 86G>C; G29A

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Pancreatic cancer as a sentinel for hereditary cancer predisposition.

Bmc Cancer

Young, Erin L EL; Thompson, Bryony A BA; Neklason, Deborah W DW; Firpo, Matthew A MA; Werner, Theresa T; Bell, Russell R; Berger, Justin J; Fraser, Alison A; Gammon, Amanda A; Koptiuch, Cathryn C; Kohlmann, Wendy K WK; Neumayer, Leigh L; Goldgar, David E DE; Mulvihill, Sean J SJ; Cannon-Albright, Lisa A LA; Tavtigian, Sean V SV

Publication Date: 2018-06-27

Variant appearance in text: PMS2: 86G>C; G29A

PubMed Link: 29945567

Variant Present in the following documents:

• 12885_2018_4573_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: PMS2: G29A

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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: PMS2: 86G>C; Gly29Ala

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Balmaña, Judith J; Digiovanni, Laura L; Gaddam, Pragna P; Walsh, Michael F MF; Joseph, Vijai V; Stadler, Zsofia K ZK; Nathanson, Katherine L KL; Garber, Judy E JE; Couch, Fergus J FJ; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM

Publication Date: 2016-12

Variant appearance in text: PMS2: Gly29Ala

PubMed Link: 27621404

Variant Present in the following documents:

• JCO.2016.68.4316.pdf

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: PMS2: 86G>C; Gly29Ala

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: PMS2: G29A; rs146176004

PubMed Link: 25503501

Variant Present in the following documents:

• NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: PMS2: G29A; rs146176004

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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