IllnessBrustkrebs- und Eierstockkrebs, hereditär (HBOC) PLUS

NGS

Bei FANCM werden nur die 3 pathogenen Varianten: p.(Arg658*), p.(Gln1701*), p.(Arg1931*) untersucht, bei EPCAM nur 3`Deletionen

Around 30/100 women with breast or ovarian cancer have a family history of the disease. In 5-10/100 cases of breast cancer, a pathogenic variant can be detected in one of the known high-risk breast cancer genes. This most frequently affects the BRCA1 and BRCA2 genes; other genes are affected much less frequently. Both women and men with a BRCA1/2 mutation can develop breast cancer. Women with a BRCA1/2 mutation are also more likely to develop ovarian cancer. In the case of pathogenic variants in other breast cancer risk genes, the risk of ovarian cancer is not always increased. The panel analysis takes into account the most important risk genes for hereditary breast and ovarian cancer. These risk genes are included in international (guideline) recommendations (see references).

This panel also contains genes that may be causative for Lynch syndrome. Lynch syndrome is characterized by an increased risk of colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small intestine, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous gland adenomas, sebaceous gland carcinomas and keratoacanthomas), pancreas and prostate. The risk of cancer and the age of onset can vary depending on the associated gene. Lynch syndrome is diagnosed in a proband by detecting a heterozygous pathogenic germline variant in MLH1, MSH2, MSH6, PMS2 or EPCAM in a molecular genetic test.

The gene mutations are inherited in an autosomal dominant manner.

A negative result in the panel test does not rule out the clinical diagnosis or a genetic cause of the symptoms.

References:

https://www.krebsinformationsdienst.de/service/iblatt/iblatt-familiaerer-brust-u-eierstockkrebs.pdfhttps://www.konsortium-familiaerer-brustkrebs.de/https://pubmed.ncbi.nlm.nih.gov/30268633/, https://www.ncbi.nlm.nih.gov/books/NBK1211/