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Abstract Background Germline mutations in <it>BRCA1/2 </it>greatly elevate risks of breast and ovarian cancers, but the role of these genes in tumourigenesis of other cancer types is still being investigated. Objective We report on an investigation of <it>BRCA1/2 </it>mutations and their loss of heterozygosity (LOH) in a patient with a strong family history of breast cancer who was diagnosed with consecutive primary cervical, ovarian and lung carcinomas. Methods and results <it>BRCA1/2 </it>mutation screening of the proband revealed a common familial breast- and ovarian cancer-associated germline <it>BRCA2 </it>mutation (3034del4bp). We then performed LOH analysis for <it>BRCA2 </it>in lung adenocarcinoma tissue of the patient. Using the laser-capture microdissection (LCM) technique, we obtained pure populations of neoplastic cells from which DNA could be extracted. Mutation analysis by denaturing high-performance liquid chromatography (DHPLC) and direct sequencing revealed loss of the mutant allele in the adenocarcinoma tumour tissue. Conclusion To our knowledge, this is the first report of investigation for LOH for <it>BRCA2 </it>in primary lung adenocarcinoma tissue of a patient with multiple primary tumours related to a familial germline <it>BRCA2 </it>mutation. Interestingly, it was the mutant, not the wild-type, allele which was lost in the lung adenocarcinoma tissue.</p

BRCA1/2 mutation screening and LOH analysis of lung adenocarcinoma tissue in a multiple-cancer patient with a strong family history of breast cancer.