title: [DNA-analysis in hereditary cancer: the importance of a reliable family history].
abstract: Three patients, a 45-year-old man, a 51-year-old woman and a 43-year-old woman, wanted to know whether they had a hereditary predisposition for cancer. The family of patient A fulfilled the clinical diagnostic criteria for hereditary non-polyposis colorectal carcinoma (HNPCC). The family of patient B fulfilled the clinical diagnostic criteria for hereditary breast/ovarian cancer (HBOC). The family of patient C did not completely fulfil the criteria for HBOC since only two family members had a confirmed diagnosis of breast cancer. In all three families, DNA-mutation analysis was performed. In families A and B no mutation was found. However, based on the family history, the diagnosis of hereditary cancer was made and recommendations for surveillance were given. After extensive counselling, one member of family B eventually decided to have prophylactic surgery performed. A few years later, a pathogenic mutation in BRCA2 was found in family B. In family C, an unclassified variant was found in BRCA1. Further investigations in the family were not possible, due to a lack of co-operation from family members. It is important to obtain a thorough and complete family history. When DNA-analysis remains inconclusive or if an unclassified variant is found, recommendations for surveillance will be based on this family history.
authors.affiliation: Academisch Medisch Centrum/Universiteit van Amsterdam, afd. Klinische Genetica, Meibergdreef 15, 1105 AZ Amsterdam. s.kapma@amc.uva.nl
authors.forename: S
authors.initials: S
authors.lastname: Kapma
authors.forename: N J
authors.initials: NJ
authors.lastname: Leschot
authors.forename: C M
authors.initials: CM
authors.lastname: Aalfs
mesh_terms: D000328:Adult; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D004252:DNA Mutational Analysis / Q000379:methods*; D004273:DNA, Neoplasm; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011159:Population Surveillance / Q000379:methods
chemical_list: D004273:DNA, Neoplasm