Abstract
Keywords: population screening, cancer family syndromes, familial doctors
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.
Appropriate management has been introduced in all identified families with high predisposition to malignancies.