Publications:

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Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: MSH6: 3956_3959del

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell

Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D

Publication Date: 2022-11-22

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 36455558

Variant Present in the following documents:

• NIHMS1852590-supplement-MMC2.xlsx, sheet 6

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: MSH6: 3959_3962del

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS5.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 2

View BVdb publication page

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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Human Mutation

DeRoin, Lia L; Cavalcante de Andrade Silva, Marcela M; Petras, Kristin K; Arndt, Kelly K; Phillips, Nathaniel N; Wanjari, Pankhuri P; Subramanian, Hari Prasanna HP; Montes, David D; McElherne, James J; Theissen, Megan M; Briese, Renee R; Das, Soma S; Godley, Lucy A LA; Segal, Jeremy J; Del Gaudio, Daniela D; Fitzpatrick, Carrie C; Churpek, Jane E JE

Publication Date: 2022-07

Variant appearance in text: MSH6: 3959_3962del; Ala1320Glufs*6

PubMed Link: 35419889

Variant Present in the following documents:

• HUMU-43-950-s001.xlsx, sheet 3

View BVdb publication page

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Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Terraf, P P; Pareja, F F; Brown, D N DN; Ceyhan-Birsoy, O O; Misyura, M M; Rana, S S; O'Reilly, E E; Carlo, M I MI; Aghajanian, C C; Liu, Y Y; Derakhshan, F F; Jayakumaran, G G; Weigelt, B B; Walsh, M M; Stadler, Z Z; Offit, K K; Ladanyi, M M; Robson, M M; Zehir, A A; Reis-Filho, J S JS; Mandelker, D D

Publication Date: 2022-04

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 35074424

Variant Present in the following documents:

• Main text
• nihms-1812141.pdf

View BVdb publication page

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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

Publication Date: 2022-06

Variant appearance in text: MSH6: 3956_3959del

PubMed Link: 34711450

Variant Present in the following documents:

• NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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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: MSH6: 3959_3962del; Ala1320Glufs

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.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: MSH6: 3959_3962delCAAG; Ala1320Glufs

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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Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer.

Jco Precision Oncology

Cadoo, Karen A KA; Mandelker, Diana L DL; Mukherjee, Semanti S; Stewart, Carolyn C; DeLair, Deborah D; Ravichandran, Vignesh V; Srinivasan, Preethi P; Hurley, Daire D; Kemel, Yelena Y; Arnold, Angela G AG; Sheehan, Margaret M; Pradhan, Nisha N; Joseph, Vijai V; Chi, Dennis S DS; Gardner, Ginger J GJ; Jewell, Elizabeth L EL; Leitao, Mario M MM; Roche, Kara Long KL; Mueller, Jennifer J JJ; Sonoda, Yukio Y; Zivanovic, Oliver O; Walsh, Michael M; Carlo, Maria I MI; Berger, Michael F MF; Hyman, David D; Zhang, Liying L; Robson, Mark E ME; Offit, Kenneth K; Aghajanian, Carol C; Rustum, Nadeem R Abu NRA; Stadler, Zsofia Z

Publication Date: 2019

Variant appearance in text: MSH6: 3959_3962delCAAG; Ala1320Glufs*6

PubMed Link: 32775946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.

Journal Of Medical Genetics

Shickh, Salma S; Gutierrez Salazar, Mariana M; Zakoor, Kathleen-Rose KR; Lázaro, Conxi C; Gu, Jessica J; Goltz, Jamie J; Kleinman, Dakota D; Noor, Abdul A; Khalouei, Sam S; Mighton, Chloe C; Reble, Emma E; Kodida, Rita R; Bombard, Yvonne Y; DiTroia, Stephanie S; Baxter, Samantha S; Watkins, Nicholas N; Care, Melanie M; Adler, Arnon A; Horsburgh, Sheri S; Morar, Oana O; Murphy, Jillian J; Nevay, Dayna-Lynn DL; Szybowska, Marta M; Aronson, Melyssa M; Panchal, Seema S; Godoy, Ruth R; Holter, Spring S; Randall Armel, Susan S; Semotiuk, Kara K; Elser, Christine C; Kim, Raymond H RH; Chitayat, David D; So, Joyce J; Faghfoury, Hanna H; Silver, Josh J; Morel, Chantal F CF; Lerner-Ellis, Jordan J

Publication Date: 2021-04

Variant appearance in text: MSH6: 3959_3962del; Ala1320Glufs

PubMed Link: 32581083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lynch Syndrome Germline Mutations in Breast Cancer: Next Generation Sequencing Case-Control Study of 1,263 Participants.

Frontiers In Oncology

Nikitin, Aleksey G AG; Chudakova, Daria A DA; Enikeev, Rafael F RF; Sakaeva, Dina D; Druzhkov, Maxim M; Shigapova, Leyla H LH; Brovkina, Olga I OI; Shagimardanova, Elena I EI; Gusev, Oleg A OA; Gordiev, Marat G MG

Publication Date: 2020

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 32547938

Variant Present in the following documents:

• Main text
• fonc-10-00666.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: MSH6: 3959_3962delCAAG; Ala1320Glufs*6

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer.

Scientific Reports

Lin, Peng-Chan PC; Yeh, Yu-Min YM; Wu, Pei-Ying PY; Hsu, Keng-Fu KF; Chang, Jang-Yang JY; Shen, Meng-Ru MR

Publication Date: 2019-03-08

Variant appearance in text: MSH6: 3959_3962delCAAG; Ala1320Glufs

PubMed Link: 30850667

Variant Present in the following documents:

• 41598_2019_40571_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_40571_MOESM2_ESM.xlsx, sheet 1

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: MSH6: 3959_3962delCAAG

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7
• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MSH6: 3956_3959del

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Multiple Brain Developmental Venous Anomalies as a Marker for Constitutional Mismatch Repair Deficiency Syndrome.

Ajnr. American Journal Of Neuroradiology

Shiran, S I SI; Ben-Sira, L L; Elhasid, R R; Roth, J J; Tabori, U U; Yalon, M M; Constantini, S S; Dvir, R R

Publication Date: 2018-10

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 30166433

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.

Molecular Genetics & Genomic Medicine

Cox, Devin M DM; Nelson, Katherine L KL; Clytone, Meera M; Collins, Debra L DL

Publication Date: 2018-11

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 30152102

Variant Present in the following documents:

• Main text
• MGG3-6-1236.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MSH6: A1320fs*6

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page

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Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.

Ca: A Cancer Journal For Clinicians

Boland, Patrick M PM; Yurgelun, Matthew B MB; Boland, C Richard CR

Publication Date: 2018-05

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 29485237

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: MSH6: 3956_3959delAAGC; Ala1320fs

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 1

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: MSH6: 3959_3962delCAAG; Ala1320Glufs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 1

View BVdb publication page

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DNA and RNA analyses in detection of genetic predisposition to cancer.

Hereditary Cancer In Clinical Practice

Kurzawski, Grzegorz G; Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Trubicka, Joanna J; Masojć, Bartłomiej B; Jakubowska, Anna A; Scott, Rodney J RJ

Publication Date: 2012-12-04

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 23206658

Variant Present in the following documents:

• Main text
• 1897-4287-10-17.pdf

View BVdb publication page

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd

Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T

Publication Date: 2012-07

Variant appearance in text: MSH6: 3956_3959delAAGC

PubMed Link: 22658618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.

Clinical Genetics

Raskin, L L; Schwenter, F F; Freytsis, M M; Tischkowitz, M M; Wong, N N; Chong, G G; Narod, S A SA; Levine, D A DA; Bogomolniy, F F; Aronson, M M; Thibodeau, S N SN; Hunt, K S KS; Rennert, G G; Gallinger, S S; Gruber, S B SB; Foulkes, W D WD

Publication Date: 2011-06

Variant appearance in text: MSH6: 3959_3962delCAAG; Ala1320GlufsX6

PubMed Link: 21155762

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd

Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G

Publication Date: 2010-01

Variant appearance in text: MSH6: 3959_3962delCAAG

PubMed Link: 20007843

Variant Present in the following documents:

• Main text

View BVdb publication page

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