ArticleAmerican journal of human genetics2000
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers.
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Who cites it
99 citing papers in PubMed, 258 citations in OpenAlex.
- Results of a phase II open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer.Breast cancer research : BCR · 2012Trial
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- Hereditary ovarian cancer.Discover oncology · 2026Review
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- Genetic testing for hereditary breast cancer in Poland: 1998-2022.Hereditary cancer in clinical practice · 2023Article
- Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country.Biomedicines · 2023Article
- Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population.Cancers · 2023Article
- The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.Frontiers in oncology · 2023Article
- Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.Hereditary cancer in clinical practice · 2022Article
- Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.Hereditary cancer in clinical practice · 2022Article
- Identification of the c.829_832delAATA Deletion Variants in theJournal of genomics · 2022Article
- The highest frequency ofReports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2022Article
- A protein interaction landscape of breast cancer.Science (New York, N.Y.) · 2021Article
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- Recurrent Mutations inCancers · 2021Article
- A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.Hereditary cancer in clinical practice · 2021Article
39 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with breast or ovarian cancer and who had cancer diagnosed, in at least one of the three affected females, at age <50 years. A total of 26 families had both breast and ovarian cancers, 4 families had ovarian cancers only, and 36 families had breast cancers only. Genomic DNA was prepared from the peripheral blood leukocytes of at least one affected woman from each family. The entire coding region of BRCA1 and BRCA2 was screened for the presence of germline mutations, by use of SSCP followed by direct sequencing of observed variants. Mutations were found in 35 (53%) of the 66 families studied. All but one of the mutations were detected within the BRCA1 gene. BRCA1 abnormalities were identified in all four families with ovarian cancer only, in 67% of 27 families with both breast and ovarian cancer, and in 34% of 35 families with breast cancer only. The single family with a BRCA2 mutation had the breast-ovarian cancer syndrome. Seven distinct mutations were identified; five of these occurred in two or more families. In total, recurrent mutations were found in 33 (94%) of the 35 families with detected mutations. Three BRCA1 abnormalities-5382insC, C61G, and 4153delA-accounted for 51%, 20%, and 11% of the identified mutations, respectively.
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