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: 181C>T; Q61*; rs63750951

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: 181C>T; Gln61Ter

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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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Genes

Paduano, Francesco F; Colao, Emma E; Fabiani, Fernanda F; Rocca, Valentina V; Dinatolo, Francesca F; Dattola, Adele A; D'Antona, Lucia L; Amato, Rosario R; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N; Iuliano, Rodolfo R

Publication Date: 2022-07-21

Variant appearance in text: MSH2: 181C>T

PubMed Link: 35886069

Variant Present in the following documents:

• Main text
• genes-13-01286.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: MSH2: 181C>T; Gln61Ter; rs63750951

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS5.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.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: MSH2: 181C>T; Q61X; rs63750951

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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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: MSH2: Q61*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

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

Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G

Publication Date: 2020-04

Variant appearance in text: MSH2: 181C>T; Gln61*

PubMed Link: 31844177

Variant Present in the following documents:

• 41436_2019_720_MOESM4_ESM.xlsx, sheet 1
• 41436_2019_720_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Single-center study of Lynch syndrome screening in colorectal polyps.

Hereditary Cancer In Clinical Practice

Zhu, FangChao F; Pan, Da D; Zhang, Hui H; Ye, Qiong Q; Xu, PeiSong P; Pan, Jie J

Publication Date: 2019

Variant appearance in text: MSH2: 181C>T

PubMed Link: 30918532

Variant Present in the following documents:

• Main text
• 13053_2019_Article_108.pdf

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: MSH2: 181C>T; Gln61X

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 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: Gln61*

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

View BVdb publication page

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In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.

Cancer Prevention Research (Philadelphia, Pa.)

Borras, Ester E; Chang, Kyle K; Pande, Mala M; Cuddy, Amanda A; Bosch, Jennifer L JL; Bannon, Sarah A SA; Mork, Maureen E ME; Rodriguez-Bigas, Miguel A MA; Taggart, Melissa W MW; Lynch, Patrick M PM; You, Y Nancy YN; Vilar, Eduardo E

Publication Date: 2017-10

Variant appearance in text: MSH2: 181C>T

PubMed Link: 28765196

Variant Present in the following documents:

• Main text

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: 181C>T; Gln61Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MSH2: 181C>T; Q61*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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: 181C>T; Gln61*

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.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: 181C>T; Q61X

PubMed Link: 24344984

Variant Present in the following documents:

• Main text
• 1897-4287-11-18.pdf

View BVdb publication page

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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics

Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P

Publication Date: 2010-09

Variant appearance in text: MSH2: Gln61X

PubMed Link: 20587412

Variant Present in the following documents:

• Main text
• jmedgenet77677.pdf

View BVdb publication page

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