Jan Lubiński

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

The paper assesses breast cancer risks linked to rare missense variants in five susceptibility genes using logistic and mixture models, finding varying risk contributions across genes.

Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia

Population based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high grade serous ovarian cancer

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

This study uses whole genome sequencing to identify potential familial Hodgkin lymphoma predisposing genes in three families, finding a novel DICER1 variant in one family.

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.