Publications:

---

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: MLH1: 299G>A; R100Q

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: MLH1: R100Q

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

---

Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

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

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: MLH1: R100Q; rs63750266

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

---

Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: MLH1: 299G>A; R100Q

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

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: HNPCC2: R100Q

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 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: MLH1: 299G>A; R100Q

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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: 299G>A; Arg100Gln

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Genetic heterogeneity and actionable mutations in HER2-positive primary breast cancers and their brain metastases.

Oncotarget

De Mattos-Arruda, Leticia L; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S; Gonzalez-Cao, Maria M; Lim, Raymond S RS; De Filippo, Maria R MR; Fusco, Nicola N; Schultheis, Anne M AM; Ortiz, Carolina C; Viteri, Santiago S; Arias, Alexandra A; Macedo, Gabriel S GS; Oliveira, Mafalda M; Gomez, Patricia P; Teixidó, Cristina C; Nuciforo, Paolo P; Peg, Vicente V; Saura, Cristina C; Ramon Y Cajal, Santiago S; Casas, Francesc Tresserra FT; Weigelt, Britta B; Cortes, Javier J; Seoane, Joan J; Reis-Filho, Jorge S JS

Publication Date: 2018-04-17

Variant appearance in text: MLH1: R100Q

PubMed Link: 29755676

Variant Present in the following documents:

• Main text
• oncotarget-09-20617.pdf

View BVdb publication page

---

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: MLH1: 299G>A

PubMed Link: 28765196

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: 299G>A; Arg100Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: R100Q

PubMed Link: 28466842

Variant Present in the following documents:

• Main text
• ncomms14755.pdf

View BVdb publication page

---

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

Human Mutation

van der Velde, K Joeri KJ; Kuiper, Joël J; Thompson, Bryony A BA; Plazzer, John-Paul JP; van Valkenhoef, Gert G; de Haan, Mark M; Jongbloed, Jan D H JD; Wijmenga, Cisca C; de Koning, Tom J TJ; Abbott, Kristin M KM; Sinke, Richard R; Spurdle, Amanda B AB; Macrae, Finlay F; Genuardi, Maurizio M; Sijmons, Rolf H RH; Swertz, Morris A MA; ,

Publication Date: 2015-07

Variant appearance in text: MLH1: 299G>A

PubMed Link: 25871441

Variant Present in the following documents:

• Main text
• HUMU-36-712.pdf

View BVdb publication page

---

Identification of cancer patients with Lynch syndrome: clinically significant discordances and problems in tissue-based mismatch repair testing.

Cancer Prevention Research (Philadelphia, Pa.)

Bartley, Angela N AN; Luthra, Rajyalakshmi R; Saraiya, Devki S DS; Urbauer, Diana L DL; Broaddus, Russell R RR

Publication Date: 2012-02

Variant appearance in text: MLH1: 299G>A; R100Q

PubMed Link: 22086678

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Hampel, Heather H; Frankel, Wendy L WL; Martin, Edward E; Arnold, Mark M; Khanduja, Karamjit K; Kuebler, Philip P; Clendenning, Mark M; Sotamaa, Kaisa K; Prior, Thomas T; Westman, Judith A JA; Panescu, Jenny J; Fix, Dan D; Lockman, Janet J; LaJeunesse, Jennifer J; Comeras, Ilene I; de la Chapelle, Albert A

Publication Date: 2008-12-10

Variant appearance in text: MLH1: 299G>A; Arg100Gln

PubMed Link: 18809606

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Nucleic Acids Research

Ellison, Aaron R AR; Lofing, Joan J; Bitter, Grant A GA

Publication Date: 2004

Variant appearance in text: MLH1: R100Q

PubMed Link: 15475387

Variant Present in the following documents:

• Main text

View BVdb publication page

---