The purpose of this consensus guideline is to outline recommendations for genetic testing that medical professionals can use to assess hereditary risk for breast cancer.
MethodsLiterature review included large datasets, basic and clinical science publications, and recent updated national guidelines. Genetic testing to assess hereditary risk of cancer is a complex, broad, and dynamic area of medical research. The dominant focus of this guideline is limited in scope to breast cancer.
ResultsThere is a lack of consensus among experts regarding which genes among many should be tested in different clinical scenarios. There is also variation in the degree of consensus regarding the understanding of risk and appropriate clinical management of mutations in many genes.
ConclusionsGenetic testing should be made available to all patients with a personal history of breast cancer. Recent data are reviewed that support genetic testing being offered to each patient with breast cancer (newly diagnosed or with a personal history). If genetic testing is performed, such testing should include BRCA1/BRCA2 and PALB2, with other genes as appropriate for the clinical scenario and family history. For patients with newly diagnosed breast cancer, identification of a mutation may impact local treatment recommendations. Patients who had genetic testing previously may benefit from updated testing. Genetic testing should be made available to patients without a history of breast cancer who meet National Comprehensive Cancer Network guidelines. Finally, variants of uncertain significance are not clinically actionable and these patients should be managed based on their individual risk factors.
相似文献Background
There is marked variability of re-excision rates after initial lumpectomy for breast cancer. Reasons for re-excision and variability across surgeons have not been well documented. We hypothesized the American Society of Breast Surgeons (ASBrS) MasterySM Program can identify reasons for re-excision.Methods
Data from January 1 to 7 November 2013 were evaluated in the ASBrS MasterySM Program to determine re-excision lumpectomy rate (RELR). On 1 June 2013, a tool to track reasons for re-excision was developed. Variation in re-excision rate by surgeon and patient characteristics was performed by Chi square test and Fisher’s test for univariate analysis, then logistic regression with backwards elimination method for multivariate analysis.Results
For 6,725 patients undergoing initial lumpectomy for cancer, 328 surgeons reported 1,451 (21.6 %) patients had one or more re-excisions. The most common reasons for re-excision were ink positive margins in 783 (49.7 %), margin <1 mm (34.3 %), and margin 1–2 mm (7.2 %). By multivariate analysis, re-excision rates were lower in patients aged less than 35 years, with White (non-) Hispanic ethnicity, and, among surgeons in solo practice, more years in practice and higher-volume practice.Conclusion
Half of re-excisions after initial lumpectomy were performed for margins that are positive. Most of the remainder were for negative close (<1–2 mm) margins. This information corroborates surgeon survey data regarding reasons for re-excision and provides proof of concept the MasterySM Program can capture surgical outcome data in real time, providing opportunity and a method for future performance improvement. 相似文献Background
Since the initial reports on use of MammoSite accelerated partial breast irradiation (APBI) for treatment of ductal carcinoma in situ (DCIS), additional follow-up data were collected. We hypothesized that APBI delivered via MammoSite would continue to be well tolerated, associated with a good cosmetic outcome, and carry a low risk for recurrence in patients with DCIS.Materials and Methods
From 2002–2004, 194 patients with DCIS were enrolled in a registry trial to assess the MammoSite. Follow-up data were available for all 194 patients. Median follow-up was 54.4 months; 63 patients had at least 5 years of follow-up. Data obtained included patient-, tumor-, and treatment-related factors, and recurrence incidence.Results
Of the 194 patients, 87 (45%) had the MammoSite placed at lumpectomy; 107 patients (55%) had the device placed postlumpectomy. In the first year of follow-up, 16 patients developed a breast infection, though the method of device placement was not associated with infection risk. Also, 46 patients developed a seroma that was associated with applicator placement at the time of lumpectomy (P = 0.001). For patients with at least 5 years of follow-up, 92% had favorable cosmetic results. There were 6 patients (3.1%) who had an ipsilateral breast recurrence, with 1 (0.5%) experiencing recurrence in the breast and axilla, for a 5-year actuarial local recurrence rate of 3.39%.Conclusions
During an extended follow-up period, APBI delivered via MammoSite continued to be well tolerated for patients with DCIS. Use of this device may make lumpectomy possible for patients who would otherwise choose mastectomy because of barriers associated with standard radiation therapy. 相似文献Background
We present a 4-year update on the efficacy, cosmetic results, and complications of MammoSite breast brachytherapy in patients enrolled in the American Society of Breast Surgeons registry trial.Methods
A total of 1,449 breasts in 1,440 patients with early stage breast cancer undergoing breast-conserving therapy were treated with adjuvant, accelerated partial breast irradiation (APBI) (34 Gy in 3.4-Gy fractions) delivered with the MammoSite device. The median follow-up period for the entire group was 36.1 months.Results
The 3-year actuarial rate of ipsilateral breast tumor recurrence was 2.15%. The 3-year actuarial rate of axillary recurrence was .36%. Complication rates were as follows: infection, 9.5%; seroma, 26.8% (symptomatic seroma, 12.7%); and fat necrosis, 2.0%. The percentages of breasts with good or excellent cosmetic results were as follows: 12 months, 95%; 24 months, 94%; 36 months, 94%; and 48 months, 91%.Conclusions
Locoregional control, complications, and cosmetic outcomes from MammoSite APBI at the 4-year update are acceptable and similar to results seen with other forms of APBI. 相似文献Phyllodes tumors (PTs) are rare breast neoplasms with variable clinical behavior by histologic type: benign, borderline, or malignant. Until recently, management guidelines recommended one approach for all subtypes.
MethodsA 21-question survey was sent to American Society of Breast Surgeon members to evaluate management patterns by subtype. Surgeon demographics, decisions regarding management of margins, re-excision, surveillance, and synoptic reporting were collected. Chi-square or analysis of variance (ANOVA) were used as appropriate, with significance set at p < 0.05.
ResultsA total of 493 of 2969 surveys were completed for a response rate of 18.3%. Among the survey takers, 55% were fellowship trained, 72% were in practice > 10 years, and 82% performed > 100 breast cases per year. Although 25% of respondents enucleate a mass with clinical suspicion of a PT alone, this decreased to 18% if a preoperative core biopsy performed was suggestive of PT. For margin management, 47% do not re-excise positive margins for benign PTs, but 96% would for a borderline or malignant PTs (p < 0.001). Only 2% perform axillary staging for malignant PTs, and 90% refer borderline or malignant PTs for radiation. Two-year surveillance was performed by about half of respondents for benign PT. However, two-thirds of respondents would increase surveillance to 5 years for borderline or malignant PTs. Only 38% report a templated synoptic pathology report at their institution.
ConclusionPT management patterns are evolving but still variable when looking at initial margin intent, decision for re-excision, radiation referral, pathologic reporting, and surveillance. This suggests the need for more specific management guidelines by subtype given differences in clinical behavior.
相似文献