Publications:

---

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer

Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A

Publication Date: 2022-12-30

Variant appearance in text: MSH2: Q61H

PubMed Link: 36585449

Variant Present in the following documents:

• 43018_2022_474_MOESM12_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM2_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM3_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM10_ESM.xlsx, sheet 6
• 43018_2022_474_MOESM7_ESM.xlsx, sheet 6

View BVdb publication page

---

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: 183G>C; Gln61His

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: 183G>C; Q61H; rs751082926

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

---

Identification of CD318, TSPAN8 and CD66c as target candidates for CAR T cell based immunotherapy of pancreatic adenocarcinoma.

Nature Communications

Schäfer, Daniel D; Tomiuk, Stefan S; Küster, Laura N LN; Rawashdeh, Wa'el Al WA; Henze, Janina J; Tischler-Höhle, German G; Agorku, David J DJ; Brauner, Janina J; Linnartz, Cathrin C; Lock, Dominik D; Kaiser, Andrew A; Herbel, Christoph C; Eckardt, Dominik D; Lamorte, Melina M; Lenhard, Dorothee D; Schüler, Julia J; Ströbel, Philipp P; Missbach-Guentner, Jeannine J; Pinkert-Leetsch, Diana D; Alves, Frauke F; Bosio, Andreas A; Hardt, Olaf O

Publication Date: 2021-03-05

Variant appearance in text: MSH2: Q61H

PubMed Link: 33674603

Variant Present in the following documents:

• 41467_2021_21774_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: Q61H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Can we classify ampullary tumours better? Clinical, pathological and molecular features. Results of an AGEO study.

British Journal Of Cancer

Perkins, Geraldine G; Svrcek, Magali M; Bouchet-Doumenq, Cecile C; Voron, Thibault T; Colussi, Orianne O; Debove, Clotilde C; Merabtene, Fatiha F; Dumont, Sylvie S; Sauvanet, Alain A; Hammel, Pascal P; Cros, Jerome J; André, Thierry T; Bachet, Jean-Baptiste JB; Bardier, Armelle A; Douard, Richard R; Meatchi, Tchao T; Peschaud, Frederique F; Emile, Jean-Francois JF; Cojean-Zelek, Isabelle I; Laurent-Puig, Pierre P; Taieb, Julien J

Publication Date: 2019-04

Variant appearance in text: MSH2: Q61H

PubMed Link: 30837681

Variant Present in the following documents:

• 41416_2019_415_MOESM7_ESM.xls, sheet 1

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: MSH2: Q61H

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---