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

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. No evidence of increased breast cancer risk for proven noncarriers from BRCA1 and BRCA2 families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Polycystic ovary syndrome and offspring risk of congenital heart defects: a nationwide cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. The current epidemic of HPV-associated oropharyngeal cancer: An 18-year Danish population-based study with 2,169 patients

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Tumor miRNA expression profile is related to vestibular schwannoma growth rate

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. The Number of Signaling Pathways Altered by Driver Mutations in Chronic Lymphocytic Leukemia Impacts Disease Outcome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

Next-generation sequencing has entered routine genetic testing of hereditary breast cancer. It has provided the opportunity to screen multiple genes simultaneously, and consequently has identified new complex genotypes. Here we report the first identification of a woman double heterozygote for mutations in the RAD51C and BRCA2 genes. The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia. This mutation is known to affect the DNA repair function of the RAD51C protein. The BRCA2 p.Leu3216Leu synonymous mutation has not been described before and mini-gene splicing experiments revealed that the mutation results in skipping of exon 26 containing a part of the DNA-binding domain. We conclude that the woman has two potential disease-causing mutations and that predictive testing of family members should include both the RAD51C and BRCA2 mutation. This study illustrates the advantage of sequencing gene panels using next-generation sequencing in terms of genetic testing.

OriginalsprogEngelsk
TidsskriftFamilial Cancer
Vol/bind14
Udgave nummer1
Sider (fra-til)129-133
ISSN1389-9600
DOI
StatusUdgivet - 2015

ID: 44914115