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: MSH6: 1109T>C; Leu370Ser; rs587779204

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: MSH6: L370S

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

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Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MSH6: 1109T>C; L370S

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH6: L370S

PubMed Link: 36260238

Variant Present in the following documents:

• 10689_2022_Article_312.pdf

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: MSH6: 1109T>C; Leu370Ser

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13-15, 2021.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH6: L370S

PubMed Link: 35366121

Variant Present in the following documents:

• Main text
• 10689_2021_Article_284.pdf

View BVdb publication page

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Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study.

Jco Precision Oncology

Levine, Monica D MD; Pearlman, Rachel R; Hampel, Heather H; Cosgrove, Casey C; Cohn, David D; Chassen, Alexis A; Suarez, Adrian A; Barrington, David A DA; McElroy, Joseph P JP; Waggoner, Steven S; Nakayama, John J; Billingsley, Caroline C; Resnick, Kim K; Andrews, Stephen S; Singh, Sareena S; Jenison, Eric E; Clements, Aine A; Neff, Robert R; Goodfellow, Paul J PJ; ,

Publication Date: 2021-11

Variant appearance in text: MSH6: Leu370Ser

PubMed Link: 34994648

Variant Present in the following documents:

• po-5-1588.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: 1109T>C; Leu370Ser; rs587779204

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology

Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE

Publication Date: 2021-01

Variant appearance in text: MSH6: 1109T>C

PubMed Link: 33393477

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MSH6: 1109T>C; L370S

PubMed Link: 32652087

Variant Present in the following documents:

• Main text

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: 1109T>C; Leu370Ser

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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Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.

Familial Cancer

Ranola, John Michael O JMO; Pearlman, Rachel R; Hampel, Heather H; Shirts, Brian H BH

Publication Date: 2019-01

Variant appearance in text: MSH6: L370S

PubMed Link: 30019097

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: MSH6: 1109T>C; Leu370Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.

Jama Oncology

Pearlman, Rachel R; Frankel, Wendy L WL; Swanson, Benjamin B; Zhao, Weiqiang W; Yilmaz, Ahmet A; Miller, Kristin K; Bacher, Jason J; Bigley, Christopher C; Nelsen, Lori L; Goodfellow, Paul J PJ; Goldberg, Richard M RM; Paskett, Electra E; Shields, Peter G PG; Freudenheim, Jo L JL; Stanich, Peter P PP; Lattimer, Ilene I; Arnold, Mark M; Liyanarachchi, Sandya S; Kalady, Matthew M; Heald, Brandie B; Greenwood, Carla C; Paquette, Ian I; Prues, Marla M; Draper, David J DJ; Lindeman, Carolyn C; Kuebler, J Philip JP; Reynolds, Kelly K; Brell, Joanna M JM; Shaper, Amy A AA; Mahesh, Sameer S; Buie, Nicole N; Weeman, Kisa K; Shine, Kristin K; Haut, Mitchell M; Edwards, Joan J; Bastola, Shyamal S; Wickham, Karen K; Khanduja, Karamjit S KS; Zacks, Rosemary R; Pritchard, Colin C CC; Shirts, Brian H BH; Jacobson, Angela A; Allen, Brian B; de la Chapelle, Albert A; Hampel, Heather H; ,

Publication Date: 2017-04-01

Variant appearance in text: MSH6: 1109T>C

PubMed Link: 27978560

Variant Present in the following documents:

• Main text

View BVdb publication page

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Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.

Gynecologic Oncology

Batte, Brittany A L BA; Bruegl, Amanda S AS; Daniels, Molly S MS; Ring, Kari L KL; Dempsey, Katherine M KM; Djordjevic, Bojana B; Luthra, Rajyalakshmi R; Fellman, Bryan M BM; Lu, Karen H KH; Broaddus, Russell R RR

Publication Date: 2014-08

Variant appearance in text: MSH6: 1109T>C; L370S

PubMed Link: 24933100

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers.

Plos One

Egoavil, Cecilia C; Alenda, Cristina C; Castillejo, Adela A; Paya, Artemio A; Peiro, Gloria G; Sánchez-Heras, Ana-Beatriz AB; Castillejo, Maria-Isabel MI; Rojas, Estefanía E; Barberá, Víctor-Manuel VM; Cigüenza, Sonia S; Lopez, Jose-Antonio JA; Piñero, Oscar O; Román, Maria-Jose MJ; Martínez-Escoriza, Juan-Carlos JC; Guarinos, Carla C; Perez-Carbonell, Lucia L; Aranda, Francisco-Ignacio FI; Soto, Jose-Luis JL

Publication Date: 2013

Variant appearance in text: MSH6: Leu370Ser

PubMed Link: 24244552

Variant Present in the following documents:

• Main text
• pone.0079737.pdf

View BVdb publication page

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