Population Screening for Cancer Family Syndromes in the West Pomeranian Region of Poland

The largest worldwide population screening for cancer family syndromes was initiated in January 2001 in the West Pomeranian Region of Poland with 1.7 m inhabitants. In the first step in the period January 2001 – May 2002 family doctors and nurses collected questionnaires asking about cancer family history among 1st and 2nd degree relatives from 1,258,401 of 1.5 m individuals (87%) who were insured in the West Pomeranian Regional Health Foundation. Up to now about 1.15 m questionnaires have been evaluated by geneticists/oncologists. According to questionnaire data around 2% of families fulfilled criteria to be suspected for cancer family syndrome. Family members (usually 1-2 representatives per family) from suspected families were invited for detailed examination. After pedigree and clinical examination as well as DNA/RNA analyses, high genetic predisposition to neoplasms was diagnosed in 10,525 families. Diagnosis of the following syndromes was established definitively or with high probability: 1. Hereditary breast/ovarian cancer syndrome – 4121 families including 438 families with diagnosed BRCA1/2 mutation. 2. Familial syndromes of colorectal cancer: a) HNPCC – 568 families including 63 families with diagnosed MSH2/MLH1 mutation, b) FAP – 22 families, c) Late onset colorectal cancer aggregations – 459 families. 3. Other hereditary organ specific syndromes: a) hereditary stomach cancer – 1250 families, b) hereditary renal cancer – 565 families, c) hereditary laryngeal cancer – 206 families, d) hereditary prostate cancer – 170 families, e) NFI – 66 families, f) VHL – 36 families, g) Retinoblastoma – 4 families, h) Peutz Jeghers syndrome – 3 families, i) juvenile polyposis – 2 families. 4. Organ-specific familial aggregations: a) familial lung cancer – 242 families, b) familial leukaemia/lymphoma – 77 families, c) familial liver cancer – 68 families, d) familial cervical cancer – 30 families, e) familial pancreatic cancer – 73 families, f) familial melanoma – 44 families, g) familial bladder – 19 families. 5. Unspecified cancer family aggregations – 3319 families.