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: MSH2: 388_389del; Gln130fs; rs63750704

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: MSH2: 388_389del; Gln130fs

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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Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.

Cancer Biology & Medicine

Yao, Jianfei J; Zhen, Yunhuan Y; Fan, Jing J; Gong, Yuan Y; Ye, Yumeng Y; Guo, Shaohua S; Liu, Hongyi H; Li, Xiaoyun X; Li, Guosheng G; Yang, Pan P; Wang, Xiaohui X; Liu, Danni D; Huang, Tanxiao T; Cao, Huiya H; Suo, Peisu P; Li, Yuemin Y; Yu, Jingbo J; Song, Lele L

Publication Date: 2022-01-12

Variant appearance in text: MSH2: 388_389del

PubMed Link: 35014770

Variant Present in the following documents:

• Main text
• cbm-19-707.pdf

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: MSH2: 388_389delCA; Q130fs; rs63750704

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Bmc Cancer

Vidal, Amanda Ferreira AF; Ferraz, Rafaella Sousa RS; El-Husny, Antonette A; Silva, Caio Santos CS; Vinasco-Sandoval, Tatiana T; Magalhães, Leandro L; Raiol-Moraes, Milene M; Barra, Williams Fernandes WF; Pereira, Cynthia Lara Brito Lins CLBL; de Assumpção, Paulo Pimentel PP; de Brito, Leonardo Miranda LM; Vialle, Ricardo Assunção RA; Santos, Sidney S; Ribeiro-Dos-Santos, Ândrea Â; Ribeiro-Dos-Santos, André M AM

Publication Date: 2021-04-07

Variant appearance in text: MSH2: 388_389delCA; Gln130fs; rs63750704

PubMed Link: 33827469

Variant Present in the following documents:

• Main text
• 12885_2021_Article_8089.pdf

View BVdb publication page

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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: MSH2: 388_389delCA; Q130Vfs*2

PubMed Link: 32549215

Variant Present in the following documents:

• Main text
• jcm-09-01861.pdf

View BVdb publication page

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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: MSH2: 388_389del; Q130Vfs*2

PubMed Link: 31118792

Variant Present in the following documents:

• Main text
• cmar-11-3721.pdf

View BVdb publication page

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Comprehensive Genetic Characterization of Human Thyroid Cancer Cell Lines: A Validated Panel for Preclinical Studies.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Landa, Iñigo I; Pozdeyev, Nikita N; Korch, Christopher C; Marlow, Laura A LA; Smallridge, Robert C RC; Copland, John A JA; Henderson, Ying C YC; Lai, Stephen Y SY; Clayman, Gary L GL; Onoda, Naoyoshi N; Tan, Aik Choon AC; Garcia-Rendueles, Maria E R MER; Knauf, Jeffrey A JA; Haugen, Bryan R BR; Fagin, James A JA; Schweppe, Rebecca E RE

Publication Date: 2019-05-15

Variant appearance in text: N/A

PubMed Link: 30737244

Variant Present in the following documents:

View BVdb publication page

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Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Cancer Medicine

Schneider, Nayê Balzan NB; Pastor, Tatiane T; Paula, André Escremim de AE; Achatz, Maria Isabel MI; Santos, Ândrea Ribeiro Dos ÂRD; Vianna, Fernanda Sales Luiz FSL; Rosset, Clévia C; Pinheiro, Manuela M; Ashton-Prolla, Patricia P; Moreira, Miguel Ângelo Martins MÂM; Palmero, Edenir Inêz EI; ,

Publication Date: 2018-05

Variant appearance in text: MSH2: 388_389del; rs63750704

PubMed Link: 29575718

Variant Present in the following documents:

• Main text
• CAM4-7-2078.pdf

View BVdb publication page

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Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.

Familial Cancer

von Salomé, Jenny J; Liu, Tao T; Keihäs, Markku M; Morak, Moni M; Holinski-Feder, Elke E; Berry, Ian R IR; Moilanen, Jukka S JS; Baert-Desurmont, Stéphanie S; Lindblom, Annika A; Lagerstedt-Robinson, Kristina K

Publication Date: 2018-10

Variant appearance in text: MSH2: 388_389del

PubMed Link: 29288294

Variant Present in the following documents:

• 10689_2017_Article_67.pdf

View BVdb publication page

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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: MSH2: 388_389delCA; Gln130Valfs*2

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

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: MSH2: 388_389delCA; Gln130Valfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: MSH2: 388_389del; Gln130Valfs*2

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

View BVdb publication page

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MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Frontiers In Oncology

Dominguez-Valentin, Mev M; Wernhoff, Patrik P; Cajal, Andrea R AR; Kalfayan, Pablo G PG; Piñero, Tamara A TA; Gonzalez, Maria L ML; Ferro, Alejandra A; Sammartino, Ines I; Causada Calo, Natalia S NS; Vaccaro, Carlos A CA

Publication Date: 2016

Variant appearance in text: MSH2: 388_389delCA

PubMed Link: 27606285

Variant Present in the following documents:

• Main text
• fonc-06-00189.pdf

View BVdb publication page

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Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.

Genetics And Molecular Biology

Fitarelli-Kiehl, Mariana M; Macedo, Gabriel S GS; Schlatter, Rosane Paixão RP; Koehler-Santos, Patricia P; Matte, Ursula da Silveira Uda S; Ashton-Prolla, Patricia P; Giacomazzi, Juliana J

Publication Date: 2016-06-03

Variant appearance in text: MSH2: 388_389del

PubMed Link: 27275664

Variant Present in the following documents:

• 1415-4757-gmb-1678-4685-GMB-2014-0351.pdf

View BVdb publication page

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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms.

Journal Of Visualized Experiments : Jove

Korpal, Manav M; Feala, Jacob J; Puyang, Xiaoling X; Zou, Jian J; Ramos, Alex H AH; Wu, Jeremy J; Baumeister, Timm T; Yu, Lihua L; Warmuth, Markus M; Zhu, Ping P

Publication Date: 2015-12-09

Variant appearance in text: N/A

PubMed Link: 26710000

Variant Present in the following documents:

View BVdb publication page

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Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.

Plos One

Paskulin, Diego Davila DD; Giacomazzi, Juliana J; Achatz, Maria Isabel MI; Costa, Sandra S; Reis, Rui Manoel RM; Hainaut, Pierre P; dos Santos, Sidney Emanuel Batista SE; Ashton-Prolla, Patricia P

Publication Date: 2015

Variant appearance in text: MSH2: 388_389del

PubMed Link: 26618902

Variant Present in the following documents:

• pone.0143262.pdf

View BVdb publication page

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Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

British Journal Of Cancer

Pinheiro, Manuela M; Pinto, Carla C; Peixoto, Ana A; Veiga, Isabel I; Lopes, Paula P; Henrique, Rui R; Baldaia, Helena H; Carneiro, Fátima F; Seruca, Raquel R; Tomlinson, Ian I; Kovac, Michal M; Heinimann, Karl K; Teixeira, Manuel R MR

Publication Date: 2015-08-11

Variant appearance in text: MSH2: 388_389del

PubMed Link: 26247575

Variant Present in the following documents:

• Main text
• bjc2015281a.pdf

View BVdb publication page

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Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice

Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM

Publication Date: 2013-12-18

Variant appearance in text: MSH2: 388_389delCA; Q130VfsX2

PubMed Link: 24344984

Variant Present in the following documents:

• Main text
• 1897-4287-11-18.pdf

View BVdb publication page

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Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Walsh, Michael D MD; Buchanan, Daniel D DD; Pearson, Sally-Ann SA; Clendenning, Mark M; Jenkins, Mark A MA; Win, Aung Ko AK; Walters, Rhiannon J RJ; Spring, Kevin J KJ; Nagler, Belinda B; Pavluk, Erika E; Arnold, Sven T ST; Goldblatt, Jack J; George, Jill J; Suthers, Graeme K GK; Phillips, Kerry K; Hopper, John L JL; Jass, Jeremy R JR; Baron, John A JA; Ahnen, Dennis J DJ; Thibodeau, Stephen N SN; Lindor, Noralane N; Parry, Susan S; Walker, Neal I NI; Rosty, Christophe C; Young, Joanne P JP

Publication Date: 2012-05

Variant appearance in text: MSH2: 388_389delCA; Gln130fs

PubMed Link: 22322191

Variant Present in the following documents:

• Main text

View BVdb publication page

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Colorectal carcinomas with microsatellite instability display a different pattern of target gene mutations according to large bowel site of origin.

Bmc Cancer

Pinheiro, Manuela M; Ahlquist, Terje T; Danielsen, Stine A SA; Lind, Guro E GE; Veiga, Isabel I; Pinto, Carla C; Costa, Vera V; Afonso, Luís L; Sousa, Olga O; Fragoso, Maria M; Santos, Lúcio L; Henrique, Rui R; Lopes, Paula P; Lopes, Carlos C; Lothe, Ragnhild A RA; Teixeira, Manuel R MR

Publication Date: 2010-10-27

Variant appearance in text: MSH2: 388_389del

PubMed Link: 20979647

Variant Present in the following documents:

• Main text
• 1471-2407-10-587.pdf

View BVdb publication page

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