BackgroundThe estimated ratio of hereditary breast/ovarian cancer (HBOC) based on family history is 1.5% in Latvia. This is significantly lower than the European average of 5–10%. Molecular markers like mutations and SNPs can help distinguish HBOC patients in the sporadic breast and ovarian cancer group.Methods50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. The newly found mutations were screened for in the breast and ovarian cancer group of 1075 patients by Real Time-PCR/HRM analysis and RFLP.ResultsFour BRCA2 mutations including three novel BRCA2 frameshift mutations and one previously known BRCA2 frameshift mutation and one BRCA1 splicing mutation were identified. Two of the BRCA2 mutations were found in a group of consecutive breast cancer patients with a frequency of 0.51% and 0.38%.ConclusionsMolecular screening of sequential cancer patients is an important tool to identify HBOC families.

Contributed by Jânis GardovskisThe aim of the study was to determine epidemiological, clinical and molecular features of hereditary breast-ovarian, colorectal, endometrial, prostate Only 22.0 % of patients were diagnosed with stage I or II disease. The majority of ovarian cancers (78.0 %) were diagnosed with stage III or IV disease. Therefore, it is very important to identify the group at risk from breast and ovarian cancers in order to employ prevention or early detection of cancer in patients and their family members.The majority of breast and ovarian cancers are considered sporadic. Approximately 15-20% of all breast and ovarian cancers are hereditary (Ford et al., 1998;Vasen et al., 2001;Jacobi et al., 2003). The incidence of hereditary breast and ovarian cancer may vary considerably among different populations and ethnic groups. In the last ten years, mutations in both BRCA1 and BRCA2 genes have been shown to be responsible for the development of hereditary breast and ovarian cancer. The aim of the study was to determine clinical and molecular and pathological features of hereditary breast and ovarian cancer in Latvia. There is continuing interest in identifying DNA variants associated with moderately increased risk of cancer. Several studies have suggested an increased risk of cancer in individuals who carry a mutation in the CHEK2 gene, one of the genes in the DNA damage signaling pathway. Originally, a single founder allele in CHEK2, 1100delC, was reported to be a low penetrance breast cancer susceptibility allele in several studies, and in many ethnic groups (Jarvinen, 1992;Bülow et al., 1996; Gorski et al., 2000;Chapelle, 2004). Then, a positive association was found between CHEK2 variants and prostate cancer in the USA, Finland and Poland (Bisgaard et al, 2004;Aretz et al., 2007;Anonîms, 2007). Recently, it was reported that individuals with a single common founder allele in Poland (the I157T missense variant) have increased risk of cancer development in many organs including the breast, prostate, thyroid, kidney and colon (Kilpivaara et al., 2003). The NOD2 gene is associated with susceptibility to inflammatory bowel disease, in particular, with Crohn's disease . It was reported that a single truncating mutation in NOD2, 3020insC, may confer increased risk of late onset colorectal cancer (Ogura et al., 2001) and then that a NOD2 mutation may be associated with increased susceptibility to lung, ovarian, early-onset laryngeal cancer and early onset breast cancer (Lichtenstein et al., 2000). It has not been established whether CHEK2 and NOD2 variants are present in Latvia and whether inherited variation in these genes influences cancer risk in this population.The aim of the study was to investigate the clinical and molecular features of hereditary colorectal cancer syndromes in Latvia in order to offer and provide predictive genetic testing of the affected families.Endometrial cancer. Endometrial cancer (EC) is among the three most common cancers in females in Latvia. There are approximately 390 new c...