Publications:

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: MSH2: A54Y

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

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: A54Y

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.

Plos Genetics

Nielsen, Sofie V SV; Stein, Amelie A; Dinitzen, Alexander B AB; Papaleo, Elena E; Tatham, Michael H MH; Poulsen, Esben G EG; Kassem, Maher M MM; Rasmussen, Lene J LJ; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R

Publication Date: 2017-04

Variant appearance in text: MSH2: A54Y

PubMed Link: 28422960

Variant Present in the following documents:

• Main text
• pgen.1006739.pdf

View BVdb publication page