[Recommendations for the management of women with an increased genetic risk of gynaecological cancer].
About 5% of all ovarian-cancer cases are caused by a genetic predisposition, in particular as a component of the autosomal dominant hereditary breast-ovarian-cancer syndrome. This syndrome is usually due to germline mutations in the BRCA1- or BRCA2-gene. Ovarian and endometrial cancer also occur in families with hereditary non-polyposis colorectal cancer (HNPCC). This syndrome is caused by germline mutations in DNA mismatch-repair genes. Women at high risk of gynaecological cancer based upon familial clustering of disease or a demonstrated pathogenic germ-line mutation are candidates for surveillance: annual gynaecological examinations, including vaginal echoscopy and serum carcinoma antigen CA125 testing. Prophylactic surgery in the form of adnexectomy leads to a marked, but not complete, reduction of ovarian-cancer risk in high-risk cases. There is insufficient evidence to advise against the use of oral contraceptives or hormonal substitution after adnexectomy for healthy women with a genetic predisposition to breast cancer. Recommendations for surveillance and prevention should only be given after genetic-risk counselling, based on a detailed family study and DNA-based diagnosis.
Verheijen
R H M
RH
Afd. Verloskunde en Gynaecologie, VU Medisch Centrum, Postbus 7057, 1007 MB Amsterdam. r.verheijen@vumc.nl
Boonstra
H
H
Menko
F H
FH
de Graaff
J
J
Vasen
H F A
HF
Kenter
G G
GG
D024682:BRCA2 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D019398:Genes, BRCA1; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000517:prevention & control; D012307:Risk Factors; D016387:Women's Health
D024682:BRCA2 Protein