Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased
Autor: | Ortrud K. Steinlein, Marlene Reithmair, Zulfiya Syunyaeva, Elke Sattler, Wolfram C. M. Dempke |
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Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Oncology Adult Male Cancer Research medicine.medical_specialty Heredity Colorectal cancer Fibrofolliculoma Genetic counseling Birt–Hogg–Dubé syndrome Risk Assessment Birt-Hogg-Dube Syndrome 03 medical and health sciences 0302 clinical medicine Risk Factors Internal medicine Germany Proto-Oncogene Proteins Prevalence Medicine Outpatient clinic Humans Genetic Predisposition to Disease Folliculin Age of Onset Aged business.industry Incidence Tumor Suppressor Proteins Middle Aged medicine.disease Pedigree 030104 developmental biology Phenotype Pneumothorax 030220 oncology & carcinogenesis Case-Control Studies Mutation Cell cancer Female business Colorectal Neoplasms |
Zdroj: | European journal of cancer (Oxford, England : 1990). 151 |
ISSN: | 1879-0852 |
Popis: | Objective Birt-Hogg-Dube syndrome (BHDS) is an inherited tumour syndrome characterised by three major symptoms: lung cysts with spontaneous pneumothorax, fibrofolliculoma and renal cell cancer. The first family with this syndrome was described in 1975 and one of its members presented with adenomatous colon polyps and colorectal cancer. Since then, it has been a matter of debate whether colorectal cancer is indeed part of the BHDS spectrum and if regular screening should be recommended. Design We analysed the frequency of colorectal cancer in a large sample of BHDS families. Clinical data were available from 256 BHDS patients (male 130, female 126) belonging to 83 unrelated families. For controls, 83 index patients who attended our outpatient clinic for non–malignancy-related genetic counselling and their family members (total of 519 controls) were used. Results The patients with BHDS showed a moderately but significantly increased rate of colorectal cancer (5.1% versus 1.5%, p-value .0068). Unexpectedly, 35% of patients with colorectal cancer corresponding to eight of 82 BHDS families fulfilled the revised Bethesda criteria for HNPCC, either because colorectal cancer occurred before age 50 years or because three family members were affected by colorectal cancer. Apart from colorectal cancer, no other HNPCC-associated tumours occurred within the Bethesda criteria–positive families, an observation that argues against a concurrence of BHDS and HNPCC in these families. Conclusion The results suggest that BHDS is associated with early-onset colorectal cancer, a hypothesis that might have a marked impact on preventive screening recommendations. |
Databáze: | OpenAIRE |
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