Genomes and Genes


Karin Kast


Country: Germany


  1. Kast K, Link T, Friedrich K, Petzold A, Niedostatek A, Schoffer O, et al. Impact of breast cancer subtypes and patterns of metastasis on outcome. Breast Cancer Res Treat. 2015;150:621-9 pubmed publisher
    ..Considering new targeted therapies and the option of surgery of oligometastases, screening for visceral metastases might be reasonable after diagnosis of Her2-positive subtypes. ..
  2. Blein S, Bardel C, Danjean V, McGuffog L, Healey S, Barrowdale D, et al. An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. Breast Cancer Res. 2015;17:61 pubmed publisher
    ..This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. ..
  3. Silvestri V, Barrowdale D, Mulligan A, Neuhausen S, Fox S, Karlan B, et al. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Res. 2016;18:15 pubmed publisher
    ..e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management. ..
  4. request reprint
    Kast K, Dobberschütz C, Sadowski C, Pistorius S, Wimberger P. Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. Arch Gynecol Obstet. 2016;294:1299-1303 pubmed
    ..Therefore, we are convinced that more information on cancer risks, options for predictive molecular testing and preventive procedures, needs to be provided to patients and gynecologists. ..
  5. Kast K, Wimberger P, Arnold N. Changes in classification of genetic variants in BRCA1 and BRCA2. Arch Gynecol Obstet. 2018;297:279-280 pubmed publisher
    ..Prevention in families with Class 3 variants should be based on pedigree based risks and should not be guided by the presence of a VUS. ..
  6. Sadowski C, Kohlstedt D, Meisel C, Keller K, Becker K, Mackenroth L, et al. BRCA1/2 missense mutations and the value of in-silico analyses. Eur J Med Genet. 2017;60:572-577 pubmed publisher
    ..More reliable, notably gene-specific, prediction tools and functional tests are needed to improve clinical counseling. ..
  7. Kast K, Krause M, Schuler M, Friedrich K, Thamm B, Bier A, et al. Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature. BMC Cancer. 2012;12:217 pubmed publisher
    ..Screening procedures should take a possibly elevated risk for radiation induced cancer into account. ..
  8. Kast K, Neuhann T, Görgens H, Becker K, Keller K, Klink B, et al. Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. BMC Cancer. 2012;12:531 pubmed publisher
  9. Meisel C, Sadowski C, Kohlstedt D, Keller K, Stäritz F, Grübling N, et al. Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. Arch Gynecol Obstet. 2017;295:1227-1238 pubmed publisher
    ..More similarities seem to be shared with our direct neighbor countries compared to other European countries. For comparison of the extended genotype, a shared database is needed. ..

More Information


  1. Kast K, Schoffer O, Link T, Forberger A, Petzold A, Niedostatek A, et al. Trastuzumab and survival of patients with metastatic breast cancer. Arch Gynecol Obstet. 2017;296:303-312 pubmed publisher
    ..Survival is best in triple-positive metastatic breast cancer. This will effect counseling at the time of first diagnosis of metastatic breast cancer. ..