Publications:

---

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 416A>G; Asn139Ser

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.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: MSH2: 416A>G; Asn139Ser

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC1: N139S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH2: N139S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.

Acta Neuropathologica

Fontebasso, Adam M AM; Schwartzentruber, Jeremy J; Khuong-Quang, Dong-Anh DA; Liu, Xiao-Yang XY; Sturm, Dominik D; Korshunov, Andrey A; Jones, David T W DT; Witt, Hendrik H; Kool, Marcel M; Albrecht, Steffen S; Fleming, Adam A; Hadjadj, Djihad D; Busche, Stephan S; Lepage, Pierre P; Montpetit, Alexandre A; Staffa, Alfredo A; Gerges, Noha N; Zakrzewska, Magdalena M; Zakrzewski, Krzystof K; Liberski, Pawel P PP; Hauser, Peter P; Garami, Miklos M; Klekner, Almos A; Bognar, Laszlo L; Zadeh, Gelareh G; Faury, Damien D; Pfister, Stefan M SM; Jabado, Nada N; Majewski, Jacek J

Publication Date: 2013-05

Variant appearance in text: MSH2: N139S

PubMed Link: 23417712

Variant Present in the following documents:

• 401_2013_1095_MOESM1_ESM.pdf

View BVdb publication page

---

Colon cancer associated genes exhibit signatures of positive selection at functionally significant positions.

Bmc Evolutionary Biology

Morgan, Claire C CC; Shakya, Kabita K; Webb, Andrew A; Walsh, Thomas A TA; Lynch, Mark M; Loscher, Christine E CE; Ruskin, Heather J HJ; O'Connell, Mary J MJ

Publication Date: 2012-07-12

Variant appearance in text: HNPCC1: N139S

PubMed Link: 22788692

Variant Present in the following documents:

• 1471-2148-12-114.pdf

View BVdb publication page

---