IllnessBrustkrebs + Eierstockkrebs + Endometrium; HBOC-Konsortium

NGS +

[Sanger]

Analysis of the PMS2 gene currently only upon special request

About 30/100 women with breast or ovarian cancer have a family history of the disease. In 5-10/100 cases of breast cancer, a mutation in one of the known breast cancer high-risk genes is detectable, most commonly affecting the BRCA1 and BRCA2 genes. Other genes are less often affected. Both, women and men with BRCA1/2 mutations can develop breast cancer. Women with a BRCA1/2 mutation are also more likely to develop ovarian cancer. If other breast cancer risk genes are mutated, the ovarian cancer risk is not increased in all cases. The panel analysis considers the 13 most important risk genes for hereditary breast and ovarian cancer. These risk genes are included in international (guideline) recommendations (see references). The penetrance of BRCA1/2 mutations for female breast cancer is approximately 70% by age 80. The median age of onset is 44-50 years. About 44% of BRCA1 mutation carriers and about 17% of BRCA2 mutation carriers develop ovarian cancer by age 80. Women and men are also at increased risk for other tumor diseases, the severity of which depends on the genes involved. The molecular genetic diagnostic yield of this panel is currently not precisely known. Therefore, a negative DNA result does not exclude 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/

• Alias: erblicher Brustkrebs + Eierstockkrebs
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Aplastic anemia (NBN)
• Allelic: Ataxia-telangiectasia (ATM)
• Allelic: Basal cell carcinoma 7 (TP53)
• Allelic: Blepharocheilodontic syndrome 1 (CDH1)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Choroid plexus papilloma (TP53)
• Allelic: Colorectal cancer (TP53)
• Allelic: Colorectal cancer, hereditary nonpolyposis, type 1 (MSH2)
• 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: Cowden syndrome 1 (PTEN)
• Allelic: Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
• Allelic: Endometrial cancer, familial (MSH6)
• Allelic: Endometrial carcinoma, somatic (CDH1)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Fanconi anemia, complementation group J (BRIP1)
• Allelic: Fanconi anemia, complementation group N (PALB2)
• Allelic: Fanconi anemia, complementation group O (RAD51C)
• Allelic: Fanconi anemia, complementation group S (BRCA1)
• Allelic: Fanconi anemia, complementation group U (XRCC2)
• Allelic: Gastric cancer, hereditary diffuse, with/-out cleft lip and/or palate (CDH1)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Hepatocellular carcinoma, somatic (TP53)
• Allelic: Leukemia, acute lymphoblastic (NBN)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Li-Fraumeni syndrome (CHEK2)
• Allelic: Li-Fraumeni syndrome (TP53)
• Allelic: Lymphoma, B-cell non-Hodgkin, somatic (ATM)
• Allelic: Lymphoma, mantle cell, somatic (ATM)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Melanoma, malignant, somatic (STK11)
• Allelic: Meningioma (PTEN)
• Allelic: Muir-Torre syndrome (MLH1, MSH2, MSH6)
• Allelic: Nasopharyngeal carcinoma, somatic (TP53)
• Allelic: Osteosarcoma (TP53)
• Allelic: Osteosarcoma, somatic (CHEK2)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, somatic (STK11)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: Pancreatic cancer, susceptibility to, 3 (PALB2)
• Allelic: Pancreatic cancer, susceptibility to, 4 (BRCA1)
• Allelic: Peutz-Jeghers syndrome (STK11)
• Allelic: Premature ovarian failure 15 (FANCM)
• Allelic: Premature ovarian failure 17 (XRCC2)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Prostate cancer, familial, susceptibility to (CHEK2)
• Allelic: Prostate cancer, susceptibility to (CDH1)
• Allelic: Spermatogenic failure (XRCC2)
• Allelic: Spermatogenic failure 28 (FANCM)
• Allelic: T-cell prolymphocytic leukemia, somatic (ATM)
• Allelic: Testicular tumor, somatic (STK11)
• Allelic: Wilms tumor (BRCA2)
• Breast + 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 (BARD1)
• 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)
• Inherited Cancer-Predisposing Syndrome [GeneCards] (RECQL)
• Mismatch repair cancer syndrome [panelapp] (MLH1, MSH2, MSH6, PMS2)
• Nijmegen breakage syndrome (NBN)
• Ovarian cancer, somatic (CDH1)