Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patients Article Swipe
Anna Nurmi
,
Taru Muranen
,
Liisa M. Pelttari
,
Johanna I. Kiiski
,
Tuomas Heikkinen
,
Sini Lehto
,
Anne Kallioniemi
,
Johanna Schleutker
,
Ralf Bützow
,
Carl Blomqvist
,
Kristiina Aittomäki
,
Heli Nevanlinna
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ijc.32309
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1002/ijc.32309
Mutations in BRCA1 and BRCA2 genes predispose to breast and ovarian cancer (BC/OC) with a high lifetime risk, whereas mutations in PALB2 , CHEK2 , ATM , FANCM , RAD51C and RAD51D genes cause a moderately elevated risk. In the Finnish population, recurrent mutations have been identified in all of these genes, the latest being CHEK2 c.319+2T>A and c.444+1G>A. By genotyping 3,156 cases and 2,089 controls, we estimated the frequencies of CHEK2 c.319+2T>A and c.444+1G>A in Finnish BC patients. CHEK2 c.319+2T>A was detected in 0.7% of the patients, and it was associated with a high risk of BC in the unselected patient group (OR = 5.40 [95% CI 1.58–18.45], p = 0.007) and similarly in the familial patient group. CHEK2 c.444+1G>A was identified in 0.1% of all patients. Additionally, we evaluated the combined prevalence of recurrent moderate‐risk gene mutations in 2,487 BC patients, 556 OC patients and 261 BRCA1/2 carriers from 109 families. The overall frequency of the mutations was 13.3% in 1,141 BRCA1/2 ‐negative familial BC patients, 7.5% in 1,727 unselected BC patients and 7.2% in 556 unselected OC patients. At least one moderate‐risk gene mutation was found in 12.5% of BRCA1 families and 7.1% of BRCA1 index patients, as well as in 17.0% of BRCA2 families and 11.3% of BRCA2 index patients, and the mutations were associated with an additional risk in the BRCA1/2 index patients (OR = 2.63 [1.15–5.48], p = 0.011). These results support gene panel testing of even multiple members of BC families where several mutations may segregate in different individuals.
Related Topics
Concepts
CHEK2
PALB2
Medicine
Internal medicine
Breast cancer
Ovarian cancer
Family history
Population
Gynecology
Gastroenterology
Oncology
Cancer
Mutation
Germline mutation
Genetics
Gene
Biology
Environmental health
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ijc.32309
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32309
- OA Status
- hybrid
- Cited By
- 27
- References
- 50
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2928463726
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2928463726Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ijc.32309Digital Object Identifier
- Title
-
Recurrent moderate‐risk mutations in Finnish breast and ovarian cancer patientsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-03-30Full publication date if available
- Authors
-
Anna Nurmi, Taru Muranen, Liisa M. Pelttari, Johanna I. Kiiski, Tuomas Heikkinen, Sini Lehto, Anne Kallioniemi, Johanna Schleutker, Ralf Bützow, Carl Blomqvist, Kristiina Aittomäki, Heli NevanlinnaList of authors in order
- Landing page
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https://doi.org/10.1002/ijc.32309Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32309Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.32309Direct OA link when available
- Concepts
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CHEK2, PALB2, Medicine, Internal medicine, Breast cancer, Ovarian cancer, Family history, Population, Gynecology, Gastroenterology, Oncology, Cancer, Mutation, Germline mutation, Genetics, Gene, Biology, Environmental healthTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
27Total citation count in OpenAlex
- Citations by year (recent)
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2025: 2, 2024: 5, 2023: 5, 2022: 5, 2021: 3Per-year citation counts (last 5 years)
- References (count)
-
50Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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