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This study was undertaken to examine transmission of information to first-degree relatives of BRCA1 mutation carriers and uptake of genetic testing. The intention was to consider revision of current legislation related to privacy if information on life-saving health care was not disseminated to at-risk family members. The Norwegian Radium Hospital provides clinical genetics services for families at high risk for hereditary breast and ovarian cancer. Together with major hospitals nationwide we provide medical surveillance. Nearly all expenses are covered by the National Health insurance. Because of the high number of families with founder mutations in BRCA1, we are in a unique position to gather information about these groups. Within a consecutive series, we identified 75 BRCA1 mutation carriers and registered information transmission and uptake of genetic testing 6 months or more after the index mutation carriers had been informed about their mutation status. These 75 BRCA1 mutation carriers had 172 living first-degree relatives, aged 18 years or older (84 females, 88 males). Forty-four out of 54 (81.5%) of females over 30 had opted for genetic testing. The testing rate among all relatives was 43%. At any age, 63% of the females underwent genetic testing compared with 24% of the males (p<0.05). The overwhelming majority of adult females at risk opted for genetic testing. Males with daughters more frequently than males without daughters asked for testing. The findings give neither reason to reconsider legislation on privacy, nor for us to consider more aggressive methods of contacting relatives. [ABSTRACT FROM AUTHOR]

Background: Oral contraceptive use has been associated with an increase in the risk of breast cancer in young women. We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2.Methods: We performed a matched case-control study on 1311 pairs of women with known deleterious BRCA1 and/or BRCA2 mutations recruited from 52 centers in 11 countries. Women who had been diagnosed with breast cancer were matched to control subjects by year of birth, country of residence, mutation (BRCA1 or BRCA2), and history of ovarian cancer. All study subjects completed a questionnaire about oral contraceptive use. Odds ratios (ORs) and 95% confidence intervals (CIs) were derived by conditional logistic regression. All statistical tests were two-sided.Results: Among BRCA2 mutation carriers, ever use of oral contraceptives was not associated with an increased risk of breast cancer (OR = 0.94, 95% CI = 0.72 to 1.24). For BRCA1 mutation carriers, ever use of oral contraceptives was associated with a modestly increased risk of breast cancer (OR = 1.20, 95% CI = 1.02 to 1.40). However, compared with BRCA1 mutation carriers who never used oral contraceptives, those who used oral contraceptives for at least 5 years had an increased risk of breast cancer (OR = 1.33, 95% CI = 1.11 to 1.60), as did those who used oral contraceptives before age 30 (OR = 1.29, 95% CI = 1.09 to 1.52), those who were diagnosed with breast cancer before age 40 (OR = 1.38, 95% CI = 1.11 to 1.72), and those who first used oral contraceptives before 1975 (OR = 1.42, 95% CI = 1.17 to 1.75).Conclusions: Among BRCA1 mutation carriers, women who first used oral contraceptives before 1975, who used them before age 30, or who used them for 5 or more years may have an increased risk of early-onset breast cancer. Oral contraceptives do not appear to be associated with risk of breast cancer in BRCA2 carriers, but data for BRCA2 carriers are limited. [ABSTRACT FROM AUTHOR]

Presents the abstract of the article 'Mutation-Specific Survival of Inherited Breast Cancer,' by P. Møller, Å. Borg, G. Evans, N. Haites, C. M. Steel, H. Vasen, H. Gregory, S. Hodgson, J. Apold, F. Lalloo, L. M æ hle, E. Anderson and K. Heimdal.

Background: Women with a mutation in BRCA1 or BRCA2 have a high risk of developing breast cancer and of contralateral cancer after the initial diagnosis of breast cancer. Tamoxifen protects against contralateral breast cancer in the general population, but whether it protects against contralateral breast cancer in BRCA1 or BRCA2 mutation carriers is not known.Methods: We compared 209 women with bilateral breast cancer and BRCA1 or BRCA2 mutation (bilateral-disease cases), with 384 women with unilateral disease and BRCA1 or BRCA2 mutation (controls) in a matched case-control study. Age and age at diagnosis of breast cancer (range 24-74 years) were much the same in bilateral-disease cases and controls, and both groups had been followed up for the same time for a second primary breast cancer. History of tamoxifen use for first breast cancer was obtained by interview, or by self-administered questionnaire.Findings: The multivariate odds ratio for contralateral breast cancer associated with tamoxifen use was 0.50 (95% CI 0.28-0.89). Tamoxifen protected against contralateral breast cancer for carriers of BRCA1 mutations (odds ratio 0.38, 95% CI 0.19-0.74) and for those with BRCA2 mutations (0.63, 0.20-1.50). In women who used tamoxifen for 2-4 years, the risk of contralateral breast cancer was reduced by 75%. A reduction in risk of contralateral cancer was also seen with oophorectomy (0.42, 0.22-0.83) and with chemotherapy (0-40, 0.26-0.60).Interpretation: Tamoxifen use reduces the risk of contralateral breast cancer in women with pathogenic mutations in the BRCA1 or BRCA2 gene. The protective effect of tamoxifen seems independent of that of oophorectomy. [ABSTRACT FROM AUTHOR]

Background: The estimated prevalence of tracheobronchomalacia (TBM) in children is about 1:2100. Prevalence of intrathoracic malacia is higher in children with chronic lung disease such as bronchiectasis and cystic fibrosis (CF) and may contribute to increased morbidity., Objective: To determine the prevalence and assess clinical features of tracheomalacia (TM), TBM and bronchomalacia (BM) in patients with primary ciliary dyskinesia (PCD)., Methods: We performed a retrospective case-note review of all children with a confirmed or highly likely diagnosis of PCD attending Oslo University Hospital between 2000 and 2021. We selected those who had undergone flexible fiberoptic bronchoscopy (FB) and in whom the presence of TBM was assessed. We retrieved demographic and clinical data, including airway symptoms, PCD-diagnostic criteria, indication for bronchoscopy, the presence of lobar atelectasis, microbiology and the descriptive and unblinded video-recorded results of FB. Complications occurring during and after bronchoscopy were noted., Results: Of 71 children with PCD, 32 underwent FB and were included in the review. The remaining 39 were included for TBM prevalence calculation only. Median age at FB was 6.0 years (3.1-11.9). Twenty-two children (69%) had intrathoracic airway malacia. Four (13%) had isolated TM, seven (22%) had TBM, and 11 (34%) had isolated BM affecting either main (n = 4) or lobar bronchi (n = 7) (LBM), including four with associated lobar atelectasis. FB related complications, one major, 12 minor, were documented in 13 children (41%)., Conclusion: We found a high prevalence of TBM among children with PCD undergoing FB. This may represent a significant comorbidity and have implications for patient management., (© 2024 The Author(s). Pediatric Pulmonology published by Wiley Periodicals LLC.)