<i>MED12</i> , the <i>Mediator Complex Subunit 12</i> Gene, Is Mutated at High Frequency in Uterine Leiomyomas

Netta Mäkinen, Miika Mehine, Jaana Tolvanen, +17

Science

Uterine LeiomyomasUterine FibroidsExome SequencingGeneticsMedicine +13

Pituitary Adenoma Predisposition Caused by Germline Mutations in the <i>AIP</i> Gene

Outi Vierimaa, Marianthi Georgitsi, Rainer Lehtonen, +13

Science

Human GrowthGeneticsGenetic EpidemiologyPathologyMolecular Genetics +15

A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer

Pia Vahteristo, Jiřina Bártková, Hannaleena Eerola, +12

The American Journal of Human Genetics

Breast OncologyMedicinePathologyFamilial Breast CancerBreast Cancer +6

Characterization of Uterine Leiomyomas by Whole-Genome Sequencing

Miika Mehine, Eevi Kaasinen, Netta Mäkinen, +12

New England Journal of Medicine

Germline CDKN1B/p27Kip1 Mutation in Multiple Endocrine Neoplasia

Marianthi Georgitsi, Anniina Raitila, Auli Karhu, +20

The Journal of Clinical Endocrinology & Metabolism

Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers

Miika Mehine, Eevi Kaasinen, Hanna-Riikka Heinonen, +12

Proceedings of the National Academy of Sciences

Distinct Driver PathwaysGynecologyPathologyCancer BiologyTumor Biology +15

p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.

Pia Vahteristo, Anitta Tamminen, Petteri Karvinen, +6

PubMed

Cancer PathologyGeneticsGenetic EpidemiologyPathologyMolecular Genetics +14

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

Marianthi Georgitsi, Anniina Raitila, Auli Karhu, +17

Proceedings of the National Academy of Sciences

CHEK2 variant I157T may be associated with increased breast cancer risk

Outi Kilpivaara, Pia Vahteristo, Jacob Falck, +12

International Journal of Cancer

Loss of SUFU Function in Familial Multiple Meningioma

Mervi Aavikko, Song-Ping Li, Silva Saarinen, +13

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderSufu FunctionPathologyMedicine +2