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The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome

1
Medical Center, Faculty of Medicine, Institute of Human Genetics, University of Freiburg, 79106 Freiburg, Germany
2
Radiology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany
3
Department of Obstetrics and Gynaecology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany
*
Author to whom correspondence should be addressed.
Academic Editor: Robert Winqvist
Genes 2021, 12(10), 1483; https://doi.org/10.3390/genes12101483
Received: 3 September 2021 / Revised: 10 September 2021 / Accepted: 21 September 2021 / Published: 24 September 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
In about 20–30% of all women with breast cancer, an increased number of cases of breast cancer can be observed in their family history. However, currently, only 5–10% of all breast cancer cases can be attributed to a pathogenic gene alteration. Molecular genetic diagnostics underwent enormous development within the last 10 years. Next-generation sequencing approaches allow increasingly extensive analyses resulting in the identification of additional candidate genes. In the present work, the germline molecular diagnostic analysis of a cohort of 228 patients with suspected hereditary breast and ovarian cancer syndrome (HBOC) was evaluated. The 27 pathogenic gene variants initially detected are listed, and their distribution in the high-risk BRCA1 and BRCA2 genes is presented in this study. In ten high-risk patients, in whom, to date, no pathogenic variant could be detected, an extended genetic analysis of previously not considered risk genes was performed. Three variants of uncertain significance and one pathogenic variant could be described. This proves the importance of extended analysis using current molecular genetic methods. View Full-Text
Keywords: HBOC; BRCA1; BRCA2 HBOC; BRCA1; BRCA2
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MDPI and ACS Style

Resch, L.D.; Hotz, A.; Zimmer, A.D.; Komlosi, K.; Singh, N.; Tzschach, A.; Windfuhr-Blum, M.; Juhasz-Boess, I.; Erbes, T.; Fischer, J.; Alter, S. The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome. Genes 2021, 12, 1483. https://doi.org/10.3390/genes12101483

AMA Style

Resch LD, Hotz A, Zimmer AD, Komlosi K, Singh N, Tzschach A, Windfuhr-Blum M, Juhasz-Boess I, Erbes T, Fischer J, Alter S. The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome. Genes. 2021; 12(10):1483. https://doi.org/10.3390/genes12101483

Chicago/Turabian Style

Resch, Luise D., Alrun Hotz, Andreas D. Zimmer, Katalin Komlosi, Nina Singh, Andreas Tzschach, Marisa Windfuhr-Blum, Ingolf Juhasz-Boess, Thalia Erbes, Judith Fischer, and Svenja Alter. 2021. "The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome" Genes 12, no. 10: 1483. https://doi.org/10.3390/genes12101483

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