scholarly journals Improved Overall Survival after Contralateral Risk-Reducing Mastectomy in Brca1/2 Mutation Carriers with a History of Unilateral Breast Cancer: A Prospective Analysis

2014 ◽  
pp. n/a-n/a ◽  
Author(s):  
Bernadette AM Heemskerk-Gerritsen ◽  
Matti A Rookus ◽  
Cora M Aalfs ◽  
Margreet GEM Aussems ◽  
Johanna M Collée ◽  
...  





2018 ◽  
Vol 36 ◽  
pp. 28-30
Author(s):  
Melissa M. Straub ◽  
Mirna B. Podoll ◽  
Stephanie N. David ◽  
Georgia L. Wiesner ◽  
Mohamed M. Desouki


2013 ◽  
Vol 103 (1) ◽  
pp. 34-40 ◽  
Author(s):  
L. Koskenvuo ◽  
C. Svarvar ◽  
S. Suominen ◽  
K. Aittomäki ◽  
T. Jahkola


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Hikmat Abdel-Razeq

Since the identification of BRCA1 and BRCA2 genes 3 decades ago, genetic testing and genetic counseling have become an integral part of routine clinical practice. The risk of breast cancer among carriers of germline pathogenic variants, like BRCA1 and BRCA2, is well established. Risk-reducing interventions, including bilateral mastectomies and salpingo-oophorectomies are both effective and have become more acceptable. Many researchers and professional societies view current guidelines as restrictive and may miss many at-risk women, and are calling to expand testing to include all patients with breast cancer, regardless of their personal or family history of cancer, while others are calling for wider adoption to even include all healthy women at age 30 or older. This review will address expanding testing in two directions; horizontally to include more patients, and even healthy women, and vertically to include more genes using next-generation sequencing-based multi-gene panel testing.



Breast Care ◽  
2019 ◽  
Vol 15 (1) ◽  
pp. 14-21 ◽  
Author(s):  
Francesca Pellini ◽  
Eleonora Granuzzo ◽  
Silvia Urbani ◽  
Sara Mirandola ◽  
Marina Caldana ◽  
...  

Background: Male breast cancer (MBC) is a rare disease with a rising incidence trend. The major risk factors related to MBC are a positive family history of breast cancer (BC) and BRCA1/2 mutations, which indicate a relevant genetic role. Methods: In this retrospective series, we enrolled 69 male patients presenting with male breast cancer (MBC) between 01/01/1992 and 31/12/2018, and 26 high-risk not-affected men presenting between 01/01/2016 and 31/12/2018. Participants’ electronic clinical records were reviewed. Patients’ data reported age at diagnosis, tumor characteristics, therapeutic management, and BRCA1/2 status as well as a family history of breast, ovarian, or prostate cancer (PCa) in first-degree relatives. Results: We analyzed 69 MBC patients. Median age was 64 years. The majority of tumors diagnosed were of an early TNM stage. The most frequent histological subtype was invasive ductal carcinoma (76.7%). Hormone receptors were positive in >90% of MBC cases. Nearly all patients underwent modified radical mastectomy or total mastectomy. Adjuvant endocrine therapy was delivered in 59.4%. Among MBC-affected patients, we recorded a high percentage of a positive family history of BC. Mutational analysis for the BRCA1/2 genes was performed in 17 MBC patients; 11.8% were carriers of BRCA2 pathogenic mutations. Among 26 healthy high-risk subjects included in this case series, 4 were BRCA1 mutation carriers and 9 were BRCA2 mutation carriers. Discussion: We evaluated the distribution of clinicopathological characteristics in MBC subjects and assessed the frequency of mutations in the BRCA genes in affected patients and healthy high-risk subjects, with the aim of proposing a surveillance program for BC and PCa.



2017 ◽  
Vol 24 (11) ◽  
pp. 3116-3123 ◽  
Author(s):  
Charlotte Gamble ◽  
Laura J. Havrilesky ◽  
Evan R. Myers ◽  
Junzo P. Chino ◽  
Scott Hollenbeck ◽  
...  


2006 ◽  
Vol 4 (2) ◽  
pp. 177-182 ◽  
Author(s):  
Susan M. Domchek ◽  
Jill E. Stopfer ◽  
Timothy R. Rebbeck

Bilateral risk-reducing oophorectomy (BRRO) is widely used for cancer risk reduction in women with BRCA1 and BRCA2 (BRCA1/2) mutations. BRRO significantly reduces breast cancer risk by approximately 50% and ovarian cancer risk by 85% to 95%, but it may be accompanied by menopausal symptoms, impaired quality of life, and accelerated bone loss. Therefore, decisions regarding the timing of BRRO, the risks and benefits of a simultaneous hysterectomy, and the use of hormone replacement therapy (HRT) must be made in concert with the patient and individualized to their circumstances. However, recent data demonstrate that HRT after BRRO in unaffected premenopausal women does not negate the breast cancer risk reduction that BRRO provides. This article reviews the studies regarding BRRO in BRCA1/2 mutation carriers, with particular focus on the use of HRT.



2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 613-613
Author(s):  
M. S. Pugliese ◽  
M. M. Stempel ◽  
S. M. Patil ◽  
M. Hsu ◽  
H. S. Cody ◽  
...  

613 Background: Modern surgical and pathologic techniques can detect small volume axillary metastases in breast cancer. The clinical significance of these metastases was evaluated in comparison to patients with negative sentinel lymph nodes (Neg-SN). Methods: Retrospective database review from 1997 through 2003 for eligible patients with unilateral breast cancer and no history of significant non-breast malignancy identified 232 patients with sentinel lymph node (SLN) metastases identified only by immunohistochemical stains (IHC-SN). They were compared to 252 Neg-SN controls selected at random from the same database population. Statistical analysis was performed with 2-sample tests, Kaplan-Meier, and Cox regression methods. Results: IHC-SN patients had worse prognostic features and received more systemic therapy than controls (Table). Age and ER status were similar. In 123 IHC-SN patients treated with axillary dissection (ALND), 16% had macrometastases in the non-SLNs. Only one axillary recurrence occurred in the group of IHC-SN patients without ANLD (n=109). With median follow up of 5 years (range 0.01–12.0), 28 recurrences and 25 deaths occurred. There were no differences between cases and controls for recurrence-free survival (RFS) or overall survival (OS) both by univariate and multivariate models that included variables such as age, tumor size, chemotherapy and hormone therapy [HR 0.99 (95%CI 0.43–2.28, p=0.99) for RFS, HR 2.06 (95%CI 0.79–5.35) p=0.14 for OS]. In IHC-SN patients treated with ALND, patients with positive non-SLNs (n=20) tended to have worse RFS than those with negative non-SLNs (n=103) [RFS 89% vs. 97% at 5 yrs (p=0.06)]. Conclusions: A significant number of IHC-SN patients had a macrometastasis identified at ALND. In patients not undergoing dissection, axillary recurrence was a rare event. However, failure to identify additional metastases by omitting ALND may result in understaging and inadequate systemic treatment in some patients. [Table: see text] No significant financial relationships to disclose.



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