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: MLH1: 2041G>A; A681T; rs63750217
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: MLH1: 2041G>A; Ala681Thr
Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.
Plos One
Mahdouani, Marwa M; Ben Ahmed, Slim S; Hmila, Fahmi F; Rais, Henda H; Ben Sghaier, Rihab R; Saad, Hanene H; Ben Said, Mariem M; Masmoudi, Saber S; Hmida, Dorra D; Brieger, Angela A; Zeuzem, Stefan S; Saad, Ali A; Gribaa, Moez M; Plotz, Guido G
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Clinical Significance of Gene Mutations and Polymorphic Variants and their Association with Prostate Cancer Risk in Polish Men.
Cancer Control : Journal Of The Moffitt Cancer Center
Heise, Marta M; Jarzemski, Piotr P; Nowak, Dagmara D; Bąk, Aneta A; Junkiert-Czarnecka, Anna A; Pilarska-Deltow, Maria M; Borysiak, Maciej M; Pilarska, Beata B; Haus, Olga O
Germline DNA damage repair gene mutations in pancreatic cancer patients with personal/family histories of pancreas/breast/ovarian/prostate cancer in a Japanese population.
Annals Of Gastroenterological Surgery
Hata, Tatsuo T; Mizuma, Masamichi M; Motoi, Fuyuhiko F; Ishida, Masaharu M; Ohtsuka, Hideo H; Nakagawa, Kei K; Morikawa, Takanori T; Furukawa, Toru T; Unno, Michiaki M
Publication Date: 2021-11
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Cancers
Frostberg, Erik E; Petersen, Annabeth Høgh AH; Bojesen, Anders A; Rahr, Hans Bjarke HB; Lindebjerg, Jan J; Rønlund, Karina K
Publication Date: 2021-10-12
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
Publication Date: 2022-07
Variant appearance in text: MLH1: 2041G>A; Ala681Thr; rs63750217
Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.
Ebiomedicine
Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M
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; ,
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
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Thompson, Bryony A BA; Frederiksen, Jane H JH; Keijzers, Guido G; Glubb, Dylan D; Kathe, Scott S; Osinga, Jan J; Westers, Helga H; Pappas, Lisa L; Boucher, Kenneth M KM; Molenkamp, Siska S; Zonneveld, José B JB; van Asperen, Christi J CJ; Goldgar, David E DE; Wallace, Susan S SS; Sijmons, Rolf H RH; Spurdle, Amanda B AB; Rasmussen, Lene J LJ; Greenblatt, Marc S MS; de Wind, Niels N; Tavtigian, Sean V SV
Identification of Lynch syndrome risk variants in the Romanian population.
Journal Of Cellular And Molecular Medicine
Iordache, Paul D PD; Mates, Dana D; Gunnarsson, Bjarni B; Eggertsson, Hannes P HP; Sulem, Patrick P; Benonisdottir, Stefania S; Csiki, Irma Eva IE; Rascu, Stefan S; Radavoi, Daniel D; Ursu, Radu R; Staicu, Catalin C; Calota, Violeta V; Voinoiu, Angelica A; Jinga, Mariana M; Rosoga, Gabriel G; Danau, Razvan R; Sima, Sorin Cristian SC; Badescu, Daniel D; Suciu, Nicoleta N; Radoi, Viorica V; Mates, Ioan Nicolae IN; Dobra, Mihai M; Nicolae, Camelia C; Kristjansdottir, Sigrun S; Jonasson, Jon G JG; Manolescu, Andrei A; Arnadottir, Gudny G; Jensson, Brynjar B; Jonasdottir, Aslaug A; Sigurdsson, Asgeir A; le Roux, Louise L; Johannsdottir, Hrefna H; Rafnar, Thorunn T; Halldorsson, Bjarni V BV; Jinga, Viorel V; Stefansson, Kari K
Publication Date: 2018-12
Variant appearance in text: MLH1: 2041G>A; Ala681Thr; rs63750217
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
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
Oncotarget
Chan, Gloria H J GHJ; Ong, Pei Yi PY; Low, Jeffrey J H JJH; Kong, Hwai Loong HL; Ow, Samuel G W SGW; Tan, David S P DSP; Lim, Yi Wan YW; Lim, Siew Eng SE; Lee, Soo-Chin SC
Publication Date: 2018-07-17
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
American Journal Of Human Genetics
Shirts, Brian H BH; Konnick, Eric Q EQ; Upham, Sarah S; Walsh, Tom T; Ranola, John Michael O JMO; Jacobson, Angela L AL; King, Mary-Claire MC; Pearlman, Rachel R; Hampel, Heather H; Pritchard, Colin C CC
Publication Date: 2018-07-05
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Cancer Biology & Therapy
Arora, Sanjeevani S; Huwe, Peter J PJ; Sikder, Rahmat R; Shah, Manali M; Browne, Amanda J AJ; Lesh, Randy R; Nicolas, Emmanuelle E; Deshpande, Sanat S; Hall, Michael J MJ; Dunbrack, Roland L RL; Golemis, Erica A EA
Publication Date: 2017-07-03
Variant appearance in text: MLH1: 2041G>A; Ala681Thr
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.
Nature Communications
Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
Cancer Genetics
Sunga, Annette Y AY; Ricker, Charité C; Espenschied, Carin R CR; Castillo, Danielle D; Melas, Marilena M; Herzog, Josef J; Bannon, Sarah S; Cruz-Correa, Marcia M; Lynch, Patrick P; Solomon, Ilana I; Gruber, Stephen B SB; Weitzel, Jeffrey N JN
Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.
Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017
Variant appearance in text: MLH1: 2041G>A; Ala681Thr