Publications:

---

Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology

Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N

Publication Date: 2023-02-20

Variant appearance in text: MLH1: A31C

PubMed Link: 36808143

Variant Present in the following documents:

• 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3

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: A31C; rs63749994

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MLH1: 91_92delinsTG; Ala31Cys

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

---

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: MLH1: 91_92delGCinsTG; Ala31Cys; rs63749994

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_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: 91_92delGCinsTG; Ala31Cys

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

SeqOthello: querying RNA-seq experiments at scale.

Genome Biology

Yu, Ye Y; Liu, Jinpeng J; Liu, Xinan X; Zhang, Yi Y; Magner, Eamonn E; Lehnert, Erik E; Qian, Chen C; Liu, Jinze J

Publication Date: 2018-10-19

Variant appearance in text: MLH1: a31c

PubMed Link: 30340508

Variant Present in the following documents:

• 13059_2018_1535_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

---

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: MLH1: 91_92delinsTG; Ala31Cys

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

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: 91_92delGCinsTG; Ala31Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: MLH1: A31C

PubMed Link: 25428177

Variant Present in the following documents:

• 40360_2014_350_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---