Hereditary tumor diseases

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Z80.- Family history of malignant neoplasm
ICD-10 online (WHO version 2019)

Hereditary tumor diseases are dealt with in the literature under different keywords. The frequently used term familial cancer syndromes should be introduced here for the time being.

Familial cancer syndromes make up about 1–2% of malignant tumors. So far, 20 hereditary cancer syndromes have been genetically characterized. The retinoblastoma was the first to be analyzed in this group. The starting point of the molecular dissection in this case was a deletion on chromosome 13 . The hereditary tumor genes are usually cancer genes with a dominant effect.

Overview of known cancer syndromes

Syndrome name primary tumor involved genes / proteins
Ataxia teleangiectatica Lymphoma Serine Protein Kinase ATM
Bloom Syndrome solid tumors Bloom Syndrome Protein
Li Fraumeni Syndrome Sarcomas , breast cancer p53
Type 1 breast cancer , familial Breast cancer BRCA1
Type 2 breast cancer, familial Breast cancer BRCA2
Melanoma , familial Melanoma CDK inhibitor 2A
Multiple endocrine neoplasia type 1 (MEN1) Islet cell tumor of the pancreas Menin
Multiple endocrine neoplasia type 2A (MEN2) type 2A Medullary Thyroid Approx Receptor Tyrosine Kinase Ret
Multiple endocrine neoplasia type 2B (MEN2) type 2B Medullary Thyroid Approx Receptor Tyrosine Kinase Ret
Neurofibromatosis type 1 Neurofibromas Neurofibromin
Neurofibromatosis type 2 Acoustic neuromas , meningiomas Merlin
Hereditary papillary renal cell carcinoma papillary renal carcinoma HGF receptor
Familial adenomatous polyposis coli, Gardner syndrome colorectal cancer Adenomatous polyposis coli protein , DNA mismatch repair proteins MSH2 , MLH1 , PMS1 , PMS2
Turcot Syndrome Adenomas and adenocarcinomas DNA mismatch repair proteins hMLH1 and hPMS2
Hereditary non-polyposis colon cancer (HNPCC) Adenomas and adenocarcinomas DNA mismatch repair proteins hMLH1 and hPMS2
Juvenile polyposis hamartomatous polyps , adenomas, and adenocarcinomas Phosphatase PTEN , MAD homolog 4
Retinoblastoma , familial Retinoblastoma Retinoblastoma protein
Wilms tumor Wilms tumor Wilms tumor protein
Xeroderma pigmentosum Skin cancer TFIIH helicase XPB , TFIIH helicase XPD , DNA excision repair proteins XPA , ERCC5

literature

  • Christoph Wagener: Molecular Oncology. Thieme Verlag, Stuttgart 1999, ISBN 3-13-103512-9 .

Web links

  • NCBI: Cancers . In: Genes and Disease (online book)