BRCA Mutations and Breast Cancer Prevention

Kotsopoulos, Joanne

doi:10.3390/cancers10120524

Cited by 86 publications

(72 citation statements)

References 119 publications

(157 reference statements)

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“…Besides, differences in ethnic background, recruitment criteria, and pathogenic mutation location may exert some effect. It was reported that the risk of breast cancer increased substantially between the ages of 30 and 50 years for BRCA1 carriers, while the risk was highest between the ages of 40 and 60 years for BRCA2 carriers, which was simulated to our results. Other aspects of basic characteristics of this study were favor of previous literatures …”

Section: Discussionsupporting

confidence: 81%

“…Currently, apart from clinical breast examination, mammography, ultrasound, and breast magnetic resonance imaging, it is wide recognition that prophylactic removal of the ovaries and risk‐reducing bilateral mastectomy are the most effective prevention measures to BRCA ‐carriers and BRCA ‐associated breast cancers . Although the role of prophylactic oophorectomy is mixed in prior studies, it is suggested that prophylactic oophorectomy might not impact breast cancer incidence, but is associated with a favorable survival for this high‐risk population . Likewise, bilateral prophylactic mastectomy, sacrificing the quality of life, is regarded as one of the most effective measures to prevent BRCA ‐associated breast cancer.…”

Section: Introductionmentioning

confidence: 99%

“…[15][16][17][18] Although the role of prophylactic oophorectomy is mixed in prior studies, it is suggested that prophylactic oophorectomy might not impact breast cancer incidence, but is associated with a favorable survival for this high-risk population. 19 Likewise, bilateral prophylactic mastectomy, sacrificing the quality of life, is regarded as one of the most effective measures to prevent BRCA-associated breast cancer. Nevertheless, many BRCA carriers do not opt for this treatment and seek alternative preventive measures.…”

Section: Introductionmentioning

confidence: 99%

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Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Huang

Lang

et al. 2020

Cancer Medicine

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Purpose Previous studies provide inconsistent interpretations of the effect of inherited genetic factors on the survival and prognosis of patients with breast cancer. The aim of this study was to examine the effect of germline BRCA1 and BRCA2 mutation on survival and subsequent breast events in Chinese women who underwent breast‐conserving surgery. Methods A retrospective review of the clinical and pathological records was performed in patients diagnosed with primary invasive breast cancer between 2005 and 2018 in the cancer registry database. Clinicopathological data and data regarding treatment and outcomes, including date and site of disease progression, were collected. The survival outcomes and independent risk factors were conducted using SPSS. Results Overall, a total of 501 patients who underwent breast‐conserving surgery were identified and subjected to analyses, of which 63 cases with BRCA1 or BRCA2 mutation. The median age at diagnosis was 41 (range, 24‐74) for carriers and 37 (range, 17‐84) for noncarriers. After a median follow‐up time of 61 months (range, 8‐161) and 70 months (range, 0‐153), respectively, in carriers and noncarriers, the overall survival (P = .173) and disease‐free survival (P = .424) were not significantly different. Analogously, there was no significant difference between the two groups about the outcomes of ipsilateral breast tumor recurrence (P = .348), yet the contralateral breast cancer (CBC) was overt worse than noncarriers (P < .001). When adjusted to confounding factors, BRCA mutation was the only independent risk factors to CBC (HR = 7.89, P = .01). Conclusion In this study, BRCA mutation carriers have higher risk of CBC. And, BRCA mutation is the only independent risk factor to CBC. Therefore, intensive surveillance and follow‐up as well as more effective individual prevention are urgent. Decisions on alternatively effective prevention, especially the prevention of CBC, are urgent and should take into account patient prognosis and preferences.

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Section: Discussionsupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Huang

Lang

et al. 2020

Cancer Medicine

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“…Self‐funded MRI screening is offered to women aged 50 years or older. In addition, other options are discussed with the patient, including prophylactic surgeries, for example, bilateral mastectomy and risk‐reducing bilateral salpingo‐oophorectomy (after child bearing is completed), lifestyle recommendations (weight management, physical activity, diet, smoking, and alcohol intake), and, if eligible, risk‐reducing medication and clinical trials (eg, the BRCA‐D study)…”

Section: Methodsmentioning

confidence: 99%

“…A retrospective review was performed using prospectively collected 15 and, if eligible, risk-reducing medication 16 and clinical trials (eg, the BRCA-D study). 17 For this study, de-identified data were extracted from the local…”

Section: Methodsmentioning

confidence: 99%

Outcomes of women at high familial risk for breast cancer: An 8‐year single‐center experience

Lammert

Skandarajah

Shackleton

et al. 2019

Asia-Pac J Clncl Oncology

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Objectives The value of a high‐risk surveillance program for mutation carriers and women at high familial breast cancer risk has not been extensively studied. A Breast and Ovarian Cancer Risk Management Clinic (BOCRMC) was established at the Royal Melbourne Hospital in 2010 to provide multimodality screening and risk management strategies for this group of women. The aims of this study were to evaluate the program and describe breast cancer diagnoses for BRCA1, BRCA2, and other germline mutation carriers as well as high‐risk noncarriers attending the BOCRMC. Methods Clinical data from mutation carriers and noncarriers with a ≥25% lifetime risk of developing breast cancer who attended between 2010 and 2018 were extracted from clinic records and compared. The pattern and mode of detection of cancer were determined. Results A total of 206 mutation carriers and 305 noncarriers attended the BOCRMC and underwent screening on at least one occasion. Median age was 37 years. After a median follow‐up of 34 months, 15 (seven invasive) breast cancers were identified in mutation carriers, with seven (six invasive) breast cancers identified in noncarriers. Of these, 20 (90.9%) were detected by annual screening, whereas two (9.1%) were detected as interval cancers (both in BRCA1 mutation carriers). Median size of the invasive breast cancers was 11 mm (range: 1.5‐30 mm). The majority (76.9%) were axillary node negative. In women aged 25‐49 years, the annualized cancer incidence was 1.6% in BRCA1, 1.4% in BRCA2 mutation carriers, and 0.5% in noncarriers. This compares to 0.06% annualized cancer incidence in the general Australian population. Conclusions Screening was effective at detecting early‐stage cancers. The incidence of events in young noncarriers was substantially higher than in the general population. This potentially justifies ongoing management through a specialty clinic, although further research to better personalize risk assessment in noncarriers is required.

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Clinical Significance of Background Parenchymal Enhancement in Breast Cancer Risk Stratification

Murakami,

Mortazavi,

et al. 2023

Magnetic Resonance Imaging

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BackgroundBackground parenchymal enhancement (BPE) is an established breast cancer risk factor. However, the relationship between BPE levels and breast cancer risk stratification remains unclear.PurposeTo evaluate the clinical relationship between BPE levels and breast cancer risk with covariate adjustments for age, ethnicity, and hormonal status.Study TypeRetrospective.Population954 screening breast MRI datasets representing 721 women divided into four cohorts: women with pathogenic germline breast cancer (BRCA) mutations (Group 1, N = 211), women with non‐BRCA germline mutations (Group 2, N = 60), women without high‐risk germline mutations but with a lifetime breast cancer risk of ≥20% using the Tyrer‐Cuzick model (Group 3, N = 362), and women with <20% lifetime risk (Group 4, N = 88).Field Strength/Sequence3 T/axial non‐fat‐saturated T1, short tau inversion recovery, fat‐saturated pre‐contrast, and post‐contrast T1‐weighted images.AssessmentData on age, body mass index, ethnicity, menopausal status, genetic predisposition, and hormonal therapy use were collected. BPE levels were evaluated by two breast fellowship‐trained radiologists independently in accordance with BI‐RADS, with a third breast fellowship‐trained radiologist resolving any discordance.Statistical TestsPropensity score matching (PSM) was utilized to adjust covariates, including age, ethnicity, menopausal status, hormonal treatments, and prior bilateral oophorectomy. The Mann–Whitney U test, chi‐squared test, and univariate and multiple logistic regression analysis were performed, with an odds ratio (OR) and corresponding 95% confidence interval. Weighted Kappa statistic was used to assess inter‐reader variation. A P value <0.05 indicated a significant result.ResultsIn the assessment of BPE, there was substantial agreement between the two interpreting radiologists (κ = 0.74). Patient demographics were not significantly different between patient groups after PSM. The BPE of Group 1 was significantly lower than that of Group 4 and Group 3 among premenopausal women. In estimating the BPE level, the OR of gene mutations was 0.35.Data ConclusionAdjusting for potential confounders, the BPE level of premenopausal women with BRCA mutations was significantly lower than that of non‐high‐risk women.Level of Evidence3Technical EfficacyStage 3

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BRCA Mutations and Breast Cancer Prevention

Cited by 86 publications

References 119 publications

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Outcomes and risk of subsequent breast events in breast‐conserving surgery patients with BRCA1 and BRCA2 mutation

Outcomes of women at high familial risk for breast cancer: An 8‐year single‐center experience

Clinical Significance of Background Parenchymal Enhancement in Breast Cancer Risk Stratification

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