Publications:

---

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

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

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: MLH1: A681T

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

---

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

Publication Date: 2023-02-26

Variant appearance in text: MLH1: 2041G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

---

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

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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

Publication Date: 2022

Variant appearance in text: MLH1: A681T

PubMed Link: 36454741

Variant Present in the following documents:

• Main text
• pone.0278283.pdf
• pone.0278283.s002.pdf

View BVdb publication page

---

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

Publication Date: 2022-11-07

Variant appearance in text: MLH1: A681T

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Routine Immunohistochemical Analysis of Mismatch Repair Proteins in Colorectal Cancer-A Prospective Analysis.

Cancers

Lemos Garcia, Joana J; Rosa, Isadora I; Saraiva, Sofia S; Marques, Inês I; Fonseca, Ricardo R; Lage, Pedro P; Francisco, Inês I; Silva, Patrícia P; Filipe, Bruno B; Albuquerque, Cristina C; Claro, Isabel I

Publication Date: 2022-07-31

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 35954394

Variant Present in the following documents:

• cancers-14-03730.pdf

View BVdb publication page

---

Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine

Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D

Publication Date: 2022-06-01

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 35638907

Variant Present in the following documents:

• cbm-19-1235-s001.pdf

View BVdb publication page

---

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

Publication Date: 2022

Variant appearance in text: MLH1: A681T

PubMed Link: 35638715

Variant Present in the following documents:

• Main text
• 10.1177_10732748211062342.pdf

View BVdb publication page

---

Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

---

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

PubMed Link: 34755017

Variant Present in the following documents:

• Main text
• AGS3-5-853.pdf

View BVdb publication page

---

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

PubMed Link: 34680242

Variant Present in the following documents:

• Main text
• cancers-13-05094.pdf

View BVdb publication page

---

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

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

---

Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 34285288

Variant Present in the following documents:

• Main text
• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2
• 41598_2021_Article_94292.pdf

View BVdb publication page

---

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: MLH1: 2041G>A; Ala681Thr; rs63750217

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

---

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

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 1

View BVdb publication page

---

Correction to: Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Hereditary Cancer In Clinical Practice

Zhang, Min M; Chen, Tianhui T

Publication Date: 2021-05-17

Variant appearance in text: MLH1: 2041G>A

PubMed Link: 34001226

Variant Present in the following documents:

• 13053_2021_Article_184.pdf

View BVdb publication page

---

Overview on population screening for carriers with germline mutations in mismatch repair (MMR) genes in China.

Hereditary Cancer In Clinical Practice

Zhang, Min M; Chen, Tianhui T

Publication Date: 2021-05-01

Variant appearance in text: MLH1: 2041G>A

PubMed Link: 33933134

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A rare large duplication of MLH1 identified in Lynch syndrome.

Hereditary Cancer In Clinical Practice

Kumar, Abhishek A; Paramasivam, Nagarajan N; Bandapalli, Obul Reddy OR; Schlesner, Matthias M; Chen, Tianhui T; Sijmons, Rolf R; Dymerska, Dagmara D; Golebiewska, Katarzyna K; Kuswik, Magdalena M; Lubinski, Jan J; Hemminki, Kari K; Försti, Asta A

Publication Date: 2021-01-19

Variant appearance in text: MLH1: A681T

PubMed Link: 33468175

Variant Present in the following documents:

• Main text
• 13053_2021_Article_167.pdf

View BVdb publication page

---

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

Publication Date: 2020-11

Variant appearance in text: MLH1: 2041G>A; A681T

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

---

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: MLH1: Ala681Thr

PubMed Link: 32849802

Variant Present in the following documents:

• Main text
• Data_Sheet_1.xlsx, sheet 3
• fgene-11-00798.pdf

View BVdb publication page

---

Unexpected expression of mismatch repair protein is more commonly seen with pathogenic missense than with other mutations in Lynch syndrome.

Human Pathology

Chen, Wei W; Hampel, Heather H; Pearlman, Rachel R; Jones, Dan D; Zhao, Weiqiang W; Alsomali, Mohammed M; Knight, Deborah D; Frankel, Wendy L WL

Publication Date: 2020-09

Variant appearance in text: MLH1: 2041G>A; A681T

PubMed Link: 32652087

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of novel Lynch syndrome mutations in Chinese patients with endometriod endometrial cancer.

Cancer Biology & Medicine

Ren, Caixia C; Liu, Yan Y; Wang, Yuxiang Y; Tang, Yan Y; Wei, Yawei Y; Liu, Congrong C; Zhang, Hongquan H

Publication Date: 2020-05-15

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 32587781

Variant Present in the following documents:

• Main text
• cbm-17-458.pdf

View BVdb publication page

---

Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.

Journal Of Clinical Medicine

Álvarez, Karin K; Orellana, Paulina P; De la Fuente, Marjorie M; Canales, Tamara T; Pinto, Eliana E; Heine, Claudio C; Solar, Benjamín B; Hurtado, Claudia C; Møller, Pål P; Kronberg, Udo U; Zarate, Alejandro José AJ; Dominguez-Valentin, Mev M; López-Köstner, Francisco F

Publication Date: 2020-06-15

Variant appearance in text: MLH1: 2041G>A; A681T

PubMed Link: 32549215

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.

Disease Markers

Zaib, Tahir T; Zhang, Chunhui C; Saleem, Komal K; Xu, Lidan L; Qin, Qian Q; Wang, Yusi Y; Ji, Wei W; Khan, Hanif H; Yu, Hanfei H; Zhu, Siqi S; Gao, Wei W; Huang, Yun Y; Jia, Xueyuan X; Wu, Jie J; Song, Hongtao H; Zhang, Yanqiao Y; Sun, Wenjing W; Fu, Songbin S

Publication Date: 2020

Variant appearance in text: MLH1: 2041G>A; A681T

PubMed Link: 32076465

Variant Present in the following documents:

• Main text
• DM2020-8360841.pdf

View BVdb publication page

---

Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic germline variants in Pakistani colorectal cancer patients.

Hereditary Cancer In Clinical Practice

Rashid, Muhammad Usman MU; Naeemi, Humaira H; Muhammad, Noor N; Loya, Asif A; Lubiński, Jan J; Jakubowska, Anna A; Yusuf, Muhammed Aasim MA

Publication Date: 2019

Variant appearance in text: MLH1: A681T; rs63750217

PubMed Link: 31660093

Variant Present in the following documents:

• Main text
• 13053_2019_Article_128.pdf

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: MLH1: 2041G>A; A681T

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine

Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K

Publication Date: 2019-09

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 31386297

Variant Present in the following documents:

• Main text
• CAM4-8-5534-s001.xlsx, sheet 1
• CAM4-8-5534.pdf

View BVdb publication page

---

Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

---

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: MLH1: 2041G>A; Ala681Thr; rs63750217

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research

Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY

Publication Date: 2019

Variant appearance in text: MLH1: 2041G>A; A681T

PubMed Link: 31118792

Variant Present in the following documents:

• Main text
• cmar-11-3721.pdf

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: MLH1: 2041G>A; Ala681Thr

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

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

Publication Date: 2019-07

Variant appearance in text: MLH1: A681T

PubMed Link: 30504929

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

PubMed Link: 30324682

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: MLH1: 2041G>A; A681T

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

---

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

PubMed Link: 30093976

Variant Present in the following documents:

• Main text
• oncotarget-09-30649.pdf

View BVdb publication page

---

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

PubMed Link: 29887214

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Clujul Medical (1957)

Goidescu, Iulian Gabriel IG; Caracostea, Gabriela G; Eniu, Dan Tudor DT; Stamatian, Florin Vasile FV

Publication Date: 2018

Variant appearance in text: MLH1: 2041G>A; Ala681Thr

PubMed Link: 29785153

Variant Present in the following documents:

• Main text
• cm-91-157.pdf

View BVdb publication page

---

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

Publication Date: 2017-09-05

Variant appearance in text: MLH1: Ala681Thr

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

View BVdb publication page

---

DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

Cancer

Ricker, Charité N CN; Hanna, Diana L DL; Peng, Cheng C; Nguyen, Nathalie T NT; Stern, Mariana C MC; Schmit, Stephanie L SL; Idos, Greg E GE; Patel, Ravi R; Tsai, Steven S; Ramirez, Veronica V; Lin, Sonia S; Shamasunadara, Vinay V; Barzi, Afsaneh A; Lenz, Heinz-Josef HJ; Figueiredo, Jane C JC

Publication Date: 2017-10-01

Variant appearance in text: MLH1: 2041G>A

PubMed Link: 28640387

Variant Present in the following documents:

• Main text

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: MLH1: 2041G>A; Ala681Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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

PubMed Link: 28494185

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

Publication Date: 2017-05-03

Variant appearance in text: MLH1: Ala681Thr

PubMed Link: 28466842

Variant Present in the following documents:

• Main text
• ncomms14755.pdf

View BVdb publication page

---

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

Publication Date: 2017-04

Variant appearance in text: MLH1: 2041G>A

PubMed Link: 28449805

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page

---