Cancer genetics, 2017-08, Vol.214-215, p.1-8
2017
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Details
- Autor(en) / Beteiligte
- Titel
- Recurrent large genomic rearrangements in BRCA1 and BRCA2 in an irish case series
- Ist Teil von
- Cancer genetics, 2017-08, Vol.214-215, p.1-8
- Ort / Verlag
- United States: Elsevier Inc
- Erscheinungsjahr
- 2017
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Highlights • We present a national cohort study of carriers of large genomic rearrangements in BRCA1 and BRCA2 • As expected, LGRs were more commonly identified in BRCA1 (49 families) than BRCA2 (7 families) • A number of recurrent LGRs were identified in BRCA1: deletions of Exons 1-23; Exon 3; and Exons 19-20 • One LGR in BRCA2, deletion of Exons 19-20 was identified in five unrelated families • There was regional variation in distribution of LGRs, with most recurrent LGRs detected in the West
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2210-7762eISSN: 2210-7770DOI: 10.1016/j.cancergen.2017.02.001Titel-ID: cdi_proquest_miscellaneous_1908433278
- Format
- –
- Schlagworte
- Adult, Aged, BRCA1, BRCA2, Breast Neoplasms - genetics, Breast Neoplasms, Male - genetics, Female, Gene Rearrangement, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genetic Testing, Hematology, Oncology and Palliative Medicine, hereditary breast and ovarian cancer, Humans, Ireland, large genomic rearrangement, Male, Medical Education, Middle Aged, Ovarian Neoplasms - genetics, Pancreatic Neoplasms - genetics, Prostatic Neoplasms - genetics