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: 137G>T; Ser46Ile; rs121434629
PMS2-associated Lynch syndrome: Past, present and future.
Frontiers In Oncology
Andini, Katarina D KD; Nielsen, Maartje M; Suerink, Manon M; Helderman, Noah C NC; Koornstra, Jan Jacob JJ; Ahadova, Aysel A; Kloor, Matthias M; Mourits, Marian J E MJE; Kok, Klaas K; Sijmons, Rolf H RH; Bajwa-Ten Broeke, Sanne W SW
Publication Date: 2023
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Bmc Medical Genomics
Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C
Publication Date: 2023-03-05
Variant appearance in text: PMS2: 137G>T; S46I; rs121434629
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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: PMS2: 137G>T; Ser46Ile
Integrated clinical and genomic analysis identifies driver events and molecular evolution of colitis-associated cancers.
Nature Communications
Chatila, Walid K WK; Walch, Henry H; Hechtman, Jaclyn F JF; Moyer, Sydney M SM; Sgambati, Valeria V; Faleck, David M DM; Srivastava, Amitabh A; Tang, Laura L; Benhamida, Jamal J; Ismailgeci, Dorina D; Campos, Carl C; Wu, Fan F; Chang, Qing Q; Vakiani, Efsevia E; de Stanchina, Elisa E; Weiser, Martin R MR; Widmar, Maria M; Yantiss, Rhonda K RK; Shah, Manish A MA; Bass, Adam J AJ; Stadler, Zsofia K ZK; Katz, Lior H LH; Mellinghoff, Ingo K IK; Sethi, Nilay S NS; Schultz, Nikolaus N; Ganesh, Karuna K; Kelsen, David D; Yaeger, Rona R
Publication Date: 2023-01-07
Variant appearance in text: PMS2: 137G>T; Ser46Ile
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.
Frontiers In Oncology
Paixão, Daniele D; Torrezan, Giovana Tardin GT; Santiago, Karina Miranda KM; Formiga, Maria Nirvana MN; Ahuno, Samuel Terkper ST; Dias-Neto, Emmanuel E; Tojal da Silva, Israel I; Foulkes, William D WD; Polak, Paz P; Carraro, Dirce Maria DM
Publication Date: 2022
Variant appearance in text: PMS2: 137G>T; Ser46Ile; rs121434629
Discrepancies between tumor genomic profiling and germline genetic testing.
Esmo Open
Pauley, K K; Koptiuch, C C; Greenberg, S S; Kohlmann, W W; Jeter, J J; Colonna, S S; Werner, T T; Kinsey, C C; Gilcrease, G G; Weis, J J; Whisenant, J J; Florou, V V; Garrido-Laguna, I I
Publication Date: 2022-08
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Human Mutation
Rayner, Emily E; Tiersma, Yvonne Y; Fortuno, Cristina C; van Hees-Stuivenberg, Sandrine S; Drost, Mark M; Thompson, Bryony B; Spurdle, Amanda B AB; de Wind, Niels N
Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.
Jco Precision Oncology
Levine, Monica D MD; Pearlman, Rachel R; Hampel, Heather H; Cosgrove, Casey C; Cohn, David D; Chassen, Alexis A; Suarez, Adrian A; Barrington, David A DA; McElroy, Joseph P JP; Waggoner, Steven S; Nakayama, John J; Billingsley, Caroline C; Resnick, Kim K; Andrews, Stephen S; Singh, Sareena S; Jenison, Eric E; Clements, Aine A; Neff, Robert R; Goodfellow, Paul J PJ; ,
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.
Hemasphere
Kroeze, Emma E; Weijers, Dilys D DD; Hagleitner, Melanie M MM; de Groot-Kruseman, Hester A HA; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Pieters, Rob R; Meijerink, Jules P P JPP; Loeffen, Jan L C JLC
Publication Date: 2022-01
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.
European Urology
Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Profiling diverse sequence tandem repeats in colorectal cancer reveals co-occurrence of microsatellite and chromosomal instability involving Chromosome 8.
Genome Medicine
Shin, GiWon G; Greer, Stephanie U SU; Hopmans, Erik E; Grimes, Susan M SM; Lee, HoJoon H; Zhao, Lan L; Miotke, Laura L; Suarez, Carlos C; Almeda, Alison F AF; Haraldsdottir, Sigurdis S; Ji, Hanlee P HP
Publication Date: 2021-09-06
Variant appearance in text: PMS2: S46I; rs121434629
Impact of deleterious variants in other genes beyond BRCA1/2 detected in breast/ovarian and pancreatic cancer patients by NGS-based multi-gene panel testing: looking over the hedge.
Esmo Open
Bono, M M; Fanale, D D; Incorvaia, L L; Cancelliere, D D; Fiorino, A A; Calò, V V; Dimino, A A; Filorizzo, C C; Corsini, L R LR; Brando, C C; Madonia, G G; Cucinella, A A; Scalia, R R; Barraco, N N; Guadagni, F F; Pedone, E E; Badalamenti, G G; Russo, A A; Bazan, V V
Publication Date: 2021-08
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Cancer Discovery
Newman, Scott S; Nakitandwe, Joy J; Kesserwan, Chimene A CA; Azzato, Elizabeth M EM; Wheeler, David A DA; Rusch, Michael M; Shurtleff, Sheila S; Hedges, Dale J DJ; Hamilton, Kayla V KV; Foy, Scott G SG; Edmonson, Michael N MN; Thrasher, Andrew A; Bahrami, Armita A; Orr, Brent A BA; Klco, Jeffery M JM; Gu, Jiali J; Harrison, Lynn W LW; Wang, Lu L; Clay, Michael R MR; Ouma, Annastasia A; Silkov, Antonina A; Liu, Yanling Y; Zhang, Zhaojie Z; Liu, Yu Y; Brady, Samuel W SW; Zhou, Xin X; Chang, Ti-Cheng TC; Pande, Manjusha M; Davis, Eric E; Becksfort, Jared J; Patel, Aman A; Wilkinson, Mark R MR; Rahbarinia, Delaram D; Kubal, Manish M; Maciaszek, Jamie L JL; Pastor, Victor V; Knight, Jay J; Gout, Alexander M AM; Wang, Jian J; Gu, Zhaohui Z; Mullighan, Charles G CG; McGee, Rose B RB; Quinn, Emily A EA; Nuccio, Regina R; Mostafavi, Roya R; Gerhardt, Elsie L EL; Taylor, Leslie M LM; Valdez, Jessica M JM; Hines-Dowell, Stacy J SJ; Pappo, Alberto S AS; Robinson, Giles G; Johnson, Liza-Marie LM; Pui, Ching-Hon CH; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J; Nichols, Kim E KE
A New Insight for the Identification of Oncogenic Variants in Breast and Prostate Cancers in Diverse Human Populations, With a Focus on Latinos.
Frontiers In Pharmacology
Varela, Nelson M NM; Guevara-Ramírez, Patricia P; Acevedo, Cristian C; Zambrano, Tomás T; Armendáriz-Castillo, Isaac I; Guerrero, Santiago S; Quiñones, Luis A LA; López-Cortés, Andrés A
Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Journal Of The National Cancer Institute
Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL
Publication Date: 2021-09-04
Variant appearance in text: PMS2: 137G>T; Ser46Ile
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM
Implementing genomic screening in diverse populations.
Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2021-02-05
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.
Jco Precision Oncology
Rosenblum, Rachel E RE; Ang, Celina C; Suckiel, Sabrina A SA; Soper, Emily R ER; Sigireddi, Meenakshi R MR; Cullina, Sinead S; Belbin, Gillian M GM; Lucas, Aimee L AL; Kenny, Eimear E EE; Abul-Husn, Noura S NS
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
Jama Network Open
Lincoln, Stephen E SE; Nussbaum, Robert L RL; Kurian, Allison W AW; Nielsen, Sarah M SM; Das, Kingshuk K; Michalski, Scott S; Yang, Shan S; Ngo, Nhu N; Blanco, Amie A; Esplin, Edward D ED
Publication Date: 2020-10-01
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020
Variant appearance in text: PMS2: 137G>T; Ser46Ile
Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.
Plos One
Singh, Ashish Kumar AK; Talseth-Palmer, Bente B; McPhillips, Mary M; Lavik, Liss Anne Solberg LAS; Xavier, Alexandre A; Drabløs, Finn F; Sjursen, Wenche W
Publication Date: 2020
Variant appearance in text: PMS2: 137G>T; Ser46Ile; rs121434629
A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.
Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10
Variant appearance in text: PMS2: 137G>T; Ser46Ile