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.
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