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We have analyzed the histopathological, clinical, and genetic characteristics in hereditary breast and ovarian cancer patients of counselled families from 1996 up to today in the southwestern Finland population. In this study we analyzed the incidence of different  BRCA1  and  BRCA2  pathogenic variants (PV). 1211 families were evaluated, and the families were classified as 38  BRCA1  families, 48  BRCA2  families, 689 non- BRCA  families and 436 other counselled families (criteria for genetic testing was not met). In those families, the study consisted of 44  BRCA1  breast and/or ovarian cancer patients, 58  BRCA2  cancer patients, 602 non- BRCA  patients and 328 other counselled patients. Breast cancer mean onset was 4.6 years earlier in  BRCA1  carriers compared to  BRCA2  (p = 0.07, a trend) and ovarian cancer onset almost 11 years earlier in  BRCA1  families (p &lt; 0.05). In  BRCA  families the onset of ovarian cancer was later than 40 years, and  BRCA2 -origin breast cancer was seen as late as 78 years. The  BRCA  PV (9%) increases the risk for same patient having both ovarian and breast cancer with a twofold risk when compared to non- BRCA  group (4%) (95% CI p &lt; 0.05). Triple-negativity in  BRCA1  (42%) carriers is approximately 2.6 times vs more common than in  BRCA2  carriers (16%) (p &lt; 0.05). The risk ratio for bilateral breast cancer is approximately four times when compared  BRCA2  (17%) and other counselled patients’ group (4%) (p &lt; 0.05). 27% southwestern  BRCA2 -families have a unique PV, and correspondingly 39% of  BRCA1 -families. The results of this analysis allow improved prediction of cancer risk in high-risk hereditary breast and ovarian families in southwestern Finland and improve long term follow-up programs. According to the result it could be justified to have the discussion about prophylactic salpingo-oophorectomy by the age of 40 years. The possibility of late breast cancer onset in  BRCA2  carriers supports the lifelong follow-up in  BRCA  carriers. Cancer onset is similar between  BRCA2  carries and non- BRCA  high-risk families. This study evaluated mutation profile of  BRCA  in southwestern Finland. In this study genotype–phenotype correlation was not found

Genetic, clinic and histopathologic characterization of BRCA-associated hereditary breast and ovarian cancer in southwestern Finland