Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps
Our findings support the notion that the clinical phenotype of BMPR1A variants may extend beyond classical JPS. Genotype-phenotype correlations are complex, since molecular comparison of constitutional and tumor features of our families to those published from JPS families in the literature show a significant overlap. The variety of clinical phenotypes warrants recognition in the clinical management of BMPR1A carriers and their family members.
Authors
- Outi Kuismin (ORCID: https://orcid.org/0000-0002-0157-8985)
- Païvi Peltomäki (ORCID: https://orcid.org/0000-0001-8819-2980)
- Laura Koskenvuo (ORCID: https://orcid.org/0000-0001-8335-7942)
- Taina T. Nieminen (ORCID: https://orcid.org/0000-0002-7273-4578)
- Laura Renkonen‐Sinisalo (ORCID: https://orcid.org/0000-0002-3122-5312)
- Anna Lepistö (ORCID: https://orcid.org/0000-0002-5866-4059)
- Markus J. Mäkinen (ORCID: https://orcid.org/0000-0002-9200-4118)
- Roger A. Laine (ORCID: https://orcid.org/0000-0001-5984-4409)
- Jukka‐Pekka Mecklin (ORCID: https://orcid.org/0000-0003-4895-2249)
- Ari Ristimäki
Institutions
- University of Helsinki (FI)
- Oulu University Hospital (FI)
- Helsinki University Hospital (FI)
- Central Finland Health Care District (FI)
- Hospital District of Helsinki and Uusimaa (FI)
- University of Jyväskylä (FI)
Publication Details
- Journal
- BMC Cancer
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1186/s12885-025-14865-8
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Helsingin Yliopisto
- Helsingin ja Uudenmaan Sairaanhoitopiiri
- Maud Kuistilan Muistosäätiö
- Jane ja Aatos Erkon Säätiö
- Syöpäsäätiö
- Biocenter Finland
- Helsinki Institute of Life Science, Helsingin Yliopisto