IllnessGynaecological tumors based on familial predisposition for inherited cancers

NGS + [Sanger]

Approximately 30 out of 100 women with breast or ovarian cancer have a family history of the disease. Mutations in one of the known breast cancer high-risk genes are detectable in 5-10% of breast cancers. Most commonly, this affects the BRCA1 and BRCA2 genes. These two tumor suppressor genes have central functions in DNA repair. Pathogenic BRCA1/2 germline mutations are responsible for a large proportion of cases of hereditary breast and ovarian cancer syndrome (HBOC) and increase the lifetime risk of breast, ovarian, prostate and/or pancreatic cancers. Endometrial cancers (ECs) are currently not formally associated with the HBOC syndrome, but have been described in patients with BRCA1/2 germline mutations. Yet recent studies have ssuggested that ECs may well be a component of HBOC syndrome, and the results have specifically highlighted a possible increased risk of serous carcinomas in women with germline BRCA1 mutations. Other gene mutations that cause HBOC (or Lynch syndrome) are also critically involved in DNA repair and are sometimes found mutated in EC. The molecular genetic diagnostic yield of this panel is currently unknown. Therefore, a negative DNA result does not exclude the clinical diagnosis.

References: https://www.krebsinformationsdienst.de/service/iblatt/iblatt-familiaerer-brust-u-eierstockkrebs.pdf

https://www.konsortium-familiaerer-brustkrebs.de/

https://pubmed.ncbi.nlm.nih.gov/30268633/

• ...for the allelic diseases of the HBOC genes please see EP0331 as well
• Alias: Breast cancer, ovarian cancer, endometrial cancer
• Alias: Breast carcinoma, ovarian carcinoma, endometrial carcinoma
• Alias: Brust-, Eierstock-, Uterusschleimhaut-Krebs
• Allelic: Aplastic anemia (NBN)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 2 (MLH1)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 4 (PMS2)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 5 (MSH6)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Muir-Torre syndrome (MLH1, MSH2)
• Breast and colorectal cancer, susceptibility to (CHEK2)
• Breast cancer, early-onset, susceptibility to (BRIP1)
• Breast cancer, lobular (CDH1)
• Breast cancer, male, susceptibility to (BRCA2)
• Breast cancer, somatic (TP53)
• Breast cancer, susceptibility to (ATM)
• Breast cancer, susceptibility to (CHEK2)
• Breast cancer, susceptibility to (PALB2)
• Breast-ovarian cancer, familial, 1 (BRCA1)
• Breast-ovarian cancer, familial, 2 (BRCA2)
• Breast-ovarian cancer, familial, susceptibility to, 3 (RAD51C)
• Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)
• Endometrial cancer, familial (MSH6)
• Fumarase deficiency (FH)
• Leiomyomatosis + renal cell cancer (FH)
• Mismatch repair cancer syndrome (MLH1, MSH2, MSH6, PMS2)
• Nijmegen breakage syndrome (NBN)
• Ovarian cancer, somatic (CDH1)