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Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
- Source :
- Journal of Medical Genetics, 47(2), 99-102
- Publication Year :
- 2009
-
Abstract
- Background Women with a germline mutation in one of the MMR genes MLH1 , MSH2 or MSH6 reportedly have 4–12% lifetime risk of ovarian cancer, but there is limited knowledge on survival. Prophylactic bilateral salpingo-oophorectomy (PBSO) has been suggested for preventing this condition. Aim The purpose of this retrospective multicentre study was to describe survival in carriers of pathogenic mutations in one of the MMR genes, and who had contracted ovarian cancer. Methods Women who had ovarian cancer, and who tested positive for or were obligate carriers of an MMR mutation, were included from 11 European centres for hereditary cancer. Most women had not attended for gynaecological screening. Crude and disease specific survival was calculated by the Kaplan–Meier algorithm. Results Among the 144 women included, 81.5% had FIGO stage 1 or 2 at diagnosis. 10 year ovarian cancer specific survival independent of staging was 80.6%, compared to less than 40% that is reported both in population based series and in BRCA mutation carriers. Disease specific 30 year survival for ovarian cancer was 71.5%, and for all hereditary non-polyposis colon cancer (HNPCC)/Lynch syndrome related cancers including ovarian cancer it was 47.3%. Conclusions In the series examined, infiltrating ovarian cancer in Lynch syndrome had a better prognosis than infiltrating ovarian cancer in BRCA1/2 mutation carriers or in the general population. Lifetime risk of ovarian cancer of about 10% and a risk of dying of ovarian cancer of 20% gave a lifetime risk of dying of ovarian cancer of about 2% in female MMR mutation carriers.
- Subjects :
- Oncology
Adult
medicine.medical_specialty
endocrine system diseases
Colorectal cancer
Population
Kaplan-Meier Estimate
MLH1
DNA Mismatch Repair
03 medical and health sciences
0302 clinical medicine
Germline mutation
Internal medicine
Genetics
medicine
Humans
education
Genetics (clinical)
030304 developmental biology
Adaptor Proteins, Signal Transducing
Aged
Retrospective Studies
Aged, 80 and over
Ovarian Neoplasms
0303 health sciences
education.field_of_study
business.industry
BRCA mutation
Cancer
Nuclear Proteins
Middle Aged
medicine.disease
Colorectal Neoplasms, Hereditary Nonpolyposis
Lynch syndrome
digestive system diseases
female genital diseases and pregnancy complications
3. Good health
DNA-Binding Proteins
MutS Homolog 2 Protein
030220 oncology & carcinogenesis
Mutation
Female
nonpolyposis colorectal-cancer gynecologic cancers risk series penetrance carriers brca1
Ovarian cancer
business
MutL Protein Homolog 1
Subjects
Details
- ISSN :
- 14686244
- Volume :
- 47
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Journal of medical genetics
- Accession number :
- edsair.doi.dedup.....1c93ba2108e4ea098023c85236ecd3b5