Mark E Robson

....

..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...

..While the frequency of 1100delC was 1.1-1.4% in healthy Finnish controls, the frequency of this allele in a North American control population and in North American breast cancer kindreds remains unclear...

..Additional studies of BABC are required to determine the nature and implications of additional genetic abnormalities occurring in these tumors...

....

..The current study evaluates the appropriateness of breast-conserving therapy (BCT) in women with BRCA mutations...

..Preliminary correlations between the site of mutation and the clinical phenotype have been proposed, but the strength of these associations is not defined...

..We studied women who had undergone RRSO to assess quality of life after the procedure...

..The well-documented increased risk of contralateral second primary breast cancer and possibly of late ipsilateral second primary breast cancers may influence patient decision-making with regard to breast-conserving treatment...

..The optimal clinical management of individuals with such a predisposition is not yet completely defined...

..Genetic testing may play an important role in refining risk assessment, identifying individuals at risk before cancer has developed, and relieving anxiety in family members who have not inherited the predisposition...

..To review the available literature regarding the outcome of breast cancer arising in the setting of a germline BRCA1 mutation...

..Consequently, we compared the outcomes after breast conservation therapy in Ashkenazi women with or without germline mutations in BRCA1 and/or BRCA2 (hereafter called BRCA)...

..To delineate the clinical characteristics and outcomes of breast cancer that arises in the setting of a germline BRCA mutation and to compare BRCA-associated breast cancers (BABC) with those that arise in women without mutations...

..66 was expected (SIR = 1.52, 95% CI = 0.02 to 8.46; P = .48). These results suggest that women from BRCA mutation-negative, site-specific breast cancer families are not at increased risk for ovarian cancer...

..However, several lines of evidence suggest that phenotypic effects may result from BRCA haploinsufficiency...

..Major gene rearrangements involving the BRCA1 and BRCA2 genes appear to contribute little to the burden of inherited predisposition to breast and ovarian cancer in the Ashkenazim...

..Breast-pancreas cancer families with BRCA1 mutations have also been observed. The influence of a family history (FH) of PC on BRCA mutation prevalence in patients with breast cancer (BC) is unknown...

..Increased prostate cancer risk has been reported for BRCA mutation carriers, but BRCA-associated clinicopathologic features have not been clearly defined...

....

..We prospectively compared the effect of risk-reducing salpingo-oophorectomy with that of surveillance for ovarian cancer on the incidence of subsequent breast cancer and BRCA-related gynecologic cancers in women with BRCA mutations...

....

..We conclude that deregulation of progesterone receptor expression, as a result of BRCA1 haploinsufficiency, may represent an early event in BRCA1-linked breast tumorigenesis...

..This finding suggests that hereditary breast carcinoma has a preinvasive phase that may be detectable with aggressive surveillance...

....

..Limited information is available regarding the impact of this approach on either quality of life (QOL) or need for invasive follow-up in this group of women...

..To date, however, the clinical utility of GWAS-derived risk markers remains limited...

....

..The aim of this study was to test whether a substantial proportion of endometrial cancers are associated with germline mutations of the PTEN gene, not necessarily in association with clinically overt Cowden syndrome...

..We sought to determine whether anxiety, depression, perception of ovarian cancer risk, and false-positive test frequency differed between high-risk premenopausal and postmenopausal women initiating ovarian cancer screening...

..Several series looking at the frequency of BRCA mutations in unselected patients with prostate cancer have not confirmed this finding. To clarify this issue, we conducted a large case-control study...

..The authors evaluated the clinical characteristics, natural history, and outcomes of patients who had ≤1 cm, lymph node-negative, triple-negative breast cancer (TNBC)...

....

..Germline mutations in the PALB2 gene have been implicated in both breast cancer and pancreatic cancer susceptibility. The extent to which PALB2 mutations account for cancer susceptibility in breast-pancreas cancer families is unknown...

..We hypothesized that patients with lung cancers found to harbor the EGFR T790M resistance mutation before treatment, an uncommon occurrence, would be likely to carry underlying germline T790M mutations...

....

..Preclinical data suggest that BRCA mutation-associated breast cancers may benefit from specific targeted therapeutic approaches...

..We compare the resulting estimates with those obtained using the Kaplan-Meier approach to demonstrate the importance of appropriately estimating the cumulative incidence of an event of interest in the presence of competing risk events...

..The primary objective was to determine the feasibility of the regimen; the secondary objective was to estimate the disease-free and overall survival...

..We assert that these recommendations protect the rights of, and minimize the risks to, third parties without impeding social and behavioral health research...

..Preclinical evidence suggests a rationale for coadministration of these agents to achieve complete estrogen blockade...

..The prognostic significance of germline mutations in BRCA1 and BRCA2 in women with breast cancer remains unclear. A combined analysis was performed to address this uncertainty...