BACKGROUND Advances in genetics may change the practice of medicine in many ways. Ascertaining practitioners' perceptions about managing the risk of familial breast cancer can give an insight into the current and expected impact on general practice to inform relevant education. Little is known about the practice nurses' (PNs) views of the new genetics in comparison with those of the GP. OBJEC...

In addition to BRCA1 and BRCA2, RAD51C, PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C, PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and with...

Objective To determine whether familial risk of cancer is limited to early onset cases. Design Nationwide prospective cohort study. Setting Nationwide Swedish Family-Cancer Database. Participants All Swedes born after 1931 and their biological parents, totalling >12.2 million individuals, including >1.1 million cases of first primary cancer. Main outcome measures Familial risks of the concordan...

PURPOSE To determine the effect of the breast cancer susceptibility mutation PALB2 1592delT on tumor phenotype and patient survival. EXPERIMENTAL DESIGN We defined the PALB2 mutation status in 947 familial and 1,274 sporadic breast cancer patients and 1,079 population controls, and compared tumor characteristics and survival in mutation carriers relative to other familial and sporadic cases a...

Limiting the success of breast cancer surgery in Bulgaria, sometimes diagnosis is very late. Genetic markers for breast cancer are not well known to the surgeons and they are not available for practical use. Appropriate psychological support is not available in every case, because the psychologists are not well informed about clinical and genetic aspects of the illness. There have been limited ...

OBJECTIVE To determine whether familial risk of cancer is limited to early onset cases. DESIGN Nationwide prospective cohort study. SETTING Nationwide Swedish Family-Cancer Database. PARTICIPANTS All Swedes born after 1931 and their biological parents, totalling >12.2 million individuals, including >1.1 million cases of first primary cancer. MAIN OUTCOME MEASURES Familial risks of the c...

Familial susceptibility to breast cancer accounts for 25% of all breast cancer cases. In familial breast cancer, mutations in the BRCA1, BRCA2, CHEK2, TP53 and PTEN genes account for 5–10% of breast and ovarian cancer cases overall. The prevalence of BRCA1 or BRCA2 mutations varies considerably between ethnic groups and geographical areas. Populationspecific mutations have been described in Ice...

PURPOSE An overwhelming majority of data on familial risk in cancer is based on incident cancer, whereas familiality in cancer mortality is largely unknown. If fatal form of cancer was a highly familial subtype, then familial risk for mortality may exceed that of incidence, which would be particularly relevant for clinical decision making and counseling. PATIENTS AND METHODS The individuals i...

PURPOSE We investigated the relationship between BRCA mutations and the distribution of familial cancers other than breast or ovary in high-risk breast cancer patients. METHODS PATIENTS WITH BREAST CANCER WHO HAD AT LEAST ONE OF THE FOLLOWING RISK FACTORS WERE ENROLLED: reported family history of breast or ovarian cancer; 40 years of age or younger age at diagnosis; bilateral breast cancer; o...

PURPOSE Tamoxifen has been the mainstay adjuvant hormonal treatment for breast cancer for many years. Conversion of tamoxifen to its active metabolite, endoxifen, is reduced by low activity of the cytochrome P450 enzyme, CYP2D6. We examined the effect of reduced CYP2D6 activity on the response to tamoxifen in patients with familial early-onset breast cancer. EXPERIMENTAL DESIGN We conducted a...