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| Verfasst von: | Rolfes, Muriel [VerfasserIn]  |
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| | Borde, Julika [VerfasserIn] |
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| | Möllenhoff, Kathrin [VerfasserIn] |
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| | Kayali, Mohamad [VerfasserIn] |
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| | Ernst, Corinna [VerfasserIn] |
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| | Gehrig, Andrea [VerfasserIn] |
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| | Sutter, Christian [VerfasserIn] |
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| | Ramser, Juliane [VerfasserIn] |
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| | Niederacher, Dieter [VerfasserIn] |
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| | Horváth, Judit [VerfasserIn] |
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| | Arnold, Norbert [VerfasserIn] |
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| | Meindl, Alfons [VerfasserIn] |
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| | Auber, Bernd [VerfasserIn] |
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| | Rump, Andreas [VerfasserIn] |
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| | Wang-Gohrke, Shan [VerfasserIn] |
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| | Ritter, Julia [VerfasserIn] |
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| | Hentschel, Julia [VerfasserIn] |
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| | Thiele, Holger [VerfasserIn] |
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| | Altmüller, Janine [VerfasserIn] |
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| | Nürnberg, Peter [VerfasserIn] |
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| | Rhiem, Kerstin [VerfasserIn] |
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| | Engel, Christoph [VerfasserIn] |
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| | Wappenschmidt, Barbara [VerfasserIn] |
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| | Schmutzler, Rita [VerfasserIn] |
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| | Hahnen, Eric [VerfasserIn] |
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| | Hauke, Jan [VerfasserIn] |
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| Titel: | Prevalence of cancer predisposition germline variants in male breast cancer patients |
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| Titelzusatz: | results of the German Consortium for Hereditary Breast and Ovarian Cancer |
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| Verf.angabe: | Muriel Rolfes, Julika Borde, Kathrin Möllenhoff, Mohamad Kayali, Corinna Ernst, Andrea Gehrig, Christian Sutter, Juliane Ramser, Dieter Niederacher, Judit Horváth, Norbert Arnold, Alfons Meindl, Bernd Auber, Andreas Rump, Shan Wang-Gohrke, Julia Ritter, Julia Hentschel, Holger Thiele, Janine Altmüller, Peter Nürnberg, Kerstin Rhiem, Christoph Engel, Barbara Wappenschmidt, Rita K. Schmutzler, Eric Hahnen and Jan Hauke |
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| E-Jahr: | 2022 |
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| Jahr: | 5 July 2022 |
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| Umfang: | 13 S. |
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| Fussnoten: | Gesehen am 19.08.2022 |
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| Titel Quelle: | Enthalten in: Cancers |
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| Ort Quelle: | Basel : MDPI, 2009 |
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| Jahr Quelle: | 2022 |
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| Band/Heft Quelle: | 14(2022), 13, Artikel-ID 3292, Seite 1-13 |
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| ISSN Quelle: | 2072-6694 |
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| Abstract: | Male breast cancer (mBC) is associated with a high prevalence of pathogenic variants (PVs) in the BRCA2 gene; however, data regarding other BC predisposition genes are limited. In this retrospective multicenter study, we investigated the prevalence of PVs in BRCA1/2 and 23 non-BRCA1/2 genes using a sample of 614 patients with mBC, recruited through the centers of the German Consortium for Hereditary Breast and Ovarian Cancer. A high proportion of patients with mBC carried PVs in BRCA2 (23.0%, 142/614) and BRCA1 (4.6%, 28/614). The prevalence of BRCA1/2 PVs was 11.0% in patients with mBC without a family history of breast and/or ovarian cancer. Patients with BRCA1/2 PVs did not show an earlier disease onset than those without. The predominant clinical presentation of tumor phenotypes was estrogen receptor (ER)-positive, progesterone receptor (PR)-positive, and HER2-negative (77.7%); further, 10.2% of the tumors were triple-positive, and 1.2% were triple-negative. No association was found between ER/PR/HER2 status and BRCA1/2 PV occurrence. Comparing the prevalence of protein-truncating variants (PTVs) between patients with mBC and control data (ExAC, n = 27,173) revealed significant associations of PTVs in both BRCA1 and BRCA2 with mBC (BRCA1: OR = 17.04, 95% CI = 10.54-26.82, p < 10-5; BRCA2: OR = 77.71, 95% CI = 58.71-102.33, p < 10-5). A case-control investigation of 23 non-BRCA1/2 genes in 340 BRCA1/2-negative patients and ExAC controls revealed significant associations of PTVs in CHEK2, PALB2, and ATM with mBC (CHEK2: OR = 3.78, 95% CI = 1.59-7.71, p = 0.002; PALB2: OR = 14.77, 95% CI = 5.02-36.02, p < 10-5; ATM: OR = 3.36, 95% CI = 0.89-8.96, p = 0.04). Overall, our findings support the benefit of multi-gene panel testing in patients with mBC irrespective of their family history, age at disease onset, and tumor phenotype. |
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| DOI: | doi:10.3390/cancers14133292 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.3390/cancers14133292 |
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| | DOI: https://doi.org/10.3390/cancers14133292 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | breast cancer predisposition genes |
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| | breast neoplasms |
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| | familial breast cancer |
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| | genetic testing |
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| | male breast cancer |
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| K10plus-PPN: | 1814757104 |
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| Verknüpfungen: | → Zeitschrift |
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Prevalence of cancer predisposition germline variants in male breast cancer patients / Rolfes, Muriel [VerfasserIn]; 5 July 2022 (Online-Ressource)
