Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Fatal outcome of malignant transformation of hidradenitis suppurativa: A case report and literature review

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. CENTRAL PRECOCIOUS PUBERTY IN TWO BOYS WITH PRADER-WILLI SYNDROME ON GROWTH HORMONE TREATMENT

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. A rare case of pseudotumor cerebri in adult Lyme disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The molecular profile of mucosal melanoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftAACE clinical case reports
Vol/bind5
Udgave nummer6
Sider (fra-til)876-879
ISSN2376-0605
DOI
StatusUdgivet - jun. 2017

ID: 52178510