nach oben

Familial Cancer

Erschienen in:

21.03.2020 | Short Communication

Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany

verfasst von: A. Laner, A. Benet-Pages, B. Neitzel, E. Holinski-Feder

Erschienen in: Familial Cancer | Ausgabe 3/2020

Einloggen, um Zugang zu erhalten

Abstract

In this study we aim to determine the prevalence of the recently identified pathogenic BRCA1 variant c.-107A > T in the south-east German population. This variant causes the epigenetic silencing of the BRCA1 promotor and has been detected in two independent families from the UK without a germline BRCA1 or BRCA2 pathogenic variant. A total of 3297 individuals with suspicion of hereditary breast and ovarian cancer and fulfilling the clinical criteria necessary for genetic testing in Germany were analyzed for presence of the variant by a Kompetitive Allele-Specific PCR (KASP) assay or direct Sanger sequencing. Since we did not detect an individual carrying the variant we conclude that BRCA1 c.-107A > T is not a common variant in the south-east German population.

Siegel R, Naishadham D, Jemal A (2013) Cancer statistics, 2013. CA Cancer J Clin 63:11–30CrossRef

Eccles SA, Aboagye EO, Ali S, Anderson AS et al (2013) Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer. Breast Cancer Res 15:R92CrossRef

Mavaddat N, Michailidou K, Dennis J et al (2019) Polygenic risk scores for prediction of breast cancer and breast cancer subtypes. Am J Hum Genet 104(1):21–34CrossRef

Turnbull C, Rahman N (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genom Hum Genet 9:321–345CrossRef

Tutt A, Robson M, Garber JE, Domchek SM, Audeh MW, Weitzel JN, Friedlander M, Arun B, Loman N, Schmutzler RK et al (2010) Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: A proof-of-concept trial. Lancet 376:235–244CrossRef

Byers H, Wallis Y, van Veen EM, Lalloo F, Reay K, Smith P, Wallace AJ, Bowers N, Newman WG, Evans DG (2016) Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. Eur J Hum Genet 24:1591–1597CrossRef

Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL (2008) The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 68:7006–7014CrossRef

Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, Santoyo-Lopez J, Aitman TJ, Eccles DM, Lalloo FI, Smith MJ, Newman WG (2018) A dominantly inherited 5′ UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer. Am J Hum Genet 103(2):213–220CrossRef

Kast K, Rhiem K, Wappenschmidt B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53:465–471CrossRef

10.

Grabowski M, Mueller-Koch Y, Grasbon-Frodl E, Koehler U et al (2005) Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families. Genet Test 9(2):138–146CrossRef

Titel: Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany
verfasst von: A. Laner
A. Benet-Pages
B. Neitzel
E. Holinski-Feder
Publikationsdatum: 21.03.2020
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 3/2020
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-020-00175-4

Neu im Fachgebiet Onkologie

19.04.2024 | EAU 2024 | Kongressbericht | Nachrichten

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Analysis of 3297 individuals suggests that the pathogenic germline 5′-UTR variant BRCA1 c.-107A > T is not common in south-east Germany

Abstract

Neu im Fachgebiet Onkologie

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Stereotaktische Radiatio schlägt konventionelle Bestrahlung

Adjuvante Brustkrebstherapie: Doppelt hält besser

Update Onkologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2020

Lack of evidence for CDK12 as an ovarian cancer predisposing gene

Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?

De novo SDHB gene mutation in a family with extra-adrenal paraganglioma

Neu im Fachgebiet Onkologie

Prostatakarzinom: EU initiiert neues Screeningkonzept

Blasenkarzinom – Biomarker statt Zytologie?

Stereotaktische Radiatio schlägt konventionelle Bestrahlung

Adjuvante Brustkrebstherapie: Doppelt hält besser

Update Onkologie