The molecular and genetic basis of inherited cancer risk in gynaecology

Key content The role of the Fanconi Anaemia‐BRCA pathway in hereditary breast‐ovarian cancer syndrome. Recent research has led to the identification of further inherited mutations associated with ovarian carcinoma. The improved knowledge of the mismatch repair pathway has led to a greater understand...

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Bibliographic Details
Published in:The obstetrician & gynaecologist 2015-10, Vol.17 (4), p.233-241
Main Authors: Beirne, James P, Irwin, Gareth W, McIntosh, Stuart A, Harley, Ian JG, Harkin, D Paul
Format: Article
Language:English
Subjects:
Breast cancer
carcinoma
gene
Genes
gynaecology
hereditary
Mutation
Ovarian cancer
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Summary:Key content The role of the Fanconi Anaemia‐BRCA pathway in hereditary breast‐ovarian cancer syndrome. Recent research has led to the identification of further inherited mutations associated with ovarian carcinoma. The improved knowledge of the mismatch repair pathway has led to a greater understanding of how hereditary mutations influence hereditary gynaecological cancer. Unusual carcinomas are often associated with unusual germline mutations. Learning objectives An outline of the incidence, prevalence and inheritance patterns of germline mutations associated with gynaecological cancer. Discussion of the molecular mechanisms that are interrupted due to these mutations and the carcinomas they are likely to influence. Ethical issues The future implications of advanced sequencing technologies on genetic screening.
ISSN:1467-2561
1744-4667
DOI:10.1111/tog.12213