Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

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Standard

Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier. / Byrjalsen, Anna; Steffensen, Ane Y; Hansen, Thomas V O; Wadt, Karin; Gerdes, Anne-Marie.

I: Clinical Case Reports, Bind 5, Nr. 6, 06.2017, s. 876-879.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Byrjalsen, A, Steffensen, AY, Hansen, TVO, Wadt, K & Gerdes, A-M 2017, 'Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier', Clinical Case Reports, bind 5, nr. 6, s. 876-879. https://doi.org/10.1002/ccr3.944

APA

Byrjalsen, A., Steffensen, A. Y., Hansen, T. V. O., Wadt, K., & Gerdes, A-M. (2017). Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier. Clinical Case Reports, 5(6), 876-879. https://doi.org/10.1002/ccr3.944

Vancouver

Byrjalsen A, Steffensen AY, Hansen TVO, Wadt K, Gerdes A-M. Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier. Clinical Case Reports. 2017 jun.;5(6):876-879. https://doi.org/10.1002/ccr3.944

Author

Byrjalsen, Anna ; Steffensen, Ane Y ; Hansen, Thomas V O ; Wadt, Karin ; Gerdes, Anne-Marie. / Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier. I: Clinical Case Reports. 2017 ; Bind 5, Nr. 6. s. 876-879.

Bibtex

@article{69390f9f2782462ba49792a069da0e2d,
title = "Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier",
abstract = "BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.",
author = "Anna Byrjalsen and Steffensen, {Ane Y} and Hansen, {Thomas V O} and Karin Wadt and Anne-Marie Gerdes",
year = "2017",
month = jun,
doi = "10.1002/ccr3.944",
language = "English",
volume = "5",
pages = "876--879",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "JohnWiley & Sons Ltd",
number = "6",

}

RIS

TY - JOUR

T1 - Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

AU - Byrjalsen, Anna

AU - Steffensen, Ane Y

AU - Hansen, Thomas V O

AU - Wadt, Karin

AU - Gerdes, Anne-Marie

PY - 2017/6

Y1 - 2017/6

N2 - BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.

AB - BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.

U2 - 10.1002/ccr3.944

DO - 10.1002/ccr3.944

M3 - Journal article

C2 - 28588830

VL - 5

SP - 876

EP - 879

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 6

ER -

ID: 196371487