scholarly journals Corrigendum to “Precision prophylaxis: Identifying the optimal timing for risk-reducing salpingo-oophorectomy based on type of BRCA1 and BRCA2 cluster region mutations” [Gynecologic Oncology 156 (2020) 363–376]

Author(s):  
Ian Solsky ◽  
Jinbo Chen ◽  
Timothy R. Rebbeck
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.


Mastology ◽  
2020 ◽  
Vol 30 ◽  
Author(s):  
Rafael Everton Assunção Ribeiro da Costa ◽  
João Victor Caminha Lustosa Falcão ◽  
Liana Carrias Bruno ◽  
Marianne Magalhães Fortes ◽  
Ana Lúcia Nascimento Araújo ◽  
...  

Malignant breast neoplasia is the main cause of cancer mortality in women in Brazil, after non-melanoma skin cancer, and about 5 to 10% of these cases are associated with family inheritance; BRCA1 and BRCA2 genes are the most frequently mutated. In this sense, there has been a paradigm shift in medical practice regarding breast cancers in recent years, with the implementation of risk-reducing surgical procedures, such as bilateral mastectomy and salpingo-oopherectomy, which still have controversies in the indication, in addition to fears and sufferings of patients, before and after the procedure. A 54-year-old female patient has been undergoing routine examinations since 2009 (49 years), as she has a family history of breast cancer. In May 2014 (54 years old), the patient underwent genetic research, discovering the pathogenic 648delT mutation in heterozygosity in the BRCA1 gene. Although complementary exams did not indicate any neoplasia, the patient wanted to undergo risk-reducing surgery. After interprofessional discussion with the patient, bilateral risk-reducing mastectomy and salpingo-oophorectomy were performed. The patient had a postoperative infection, and one of the silicone prostheses was removed from her breast. In 2015 (55 years old), she underwent a new prosthesis inclusion, evolving without complications. Currently, she is being followed up and without evidence of active cancer disease. Despite the complication with the prosthesis, there was an improvement in psychological aspects that bothered her, referring to a reduction in anxiety and fear of cancer. Although beneficial, risk-reducing mastectomy has associated risks, especially in patients with advanced age and comorbidities. However, with an appropriate approach and focused on the complexities of each person, it is possible to provide the patient with a better overall psychological experience, as demonstrated in this case reported.


2019 ◽  
Vol 177 (3) ◽  
pp. 723-733 ◽  
Author(s):  
Bernadette A. M. Heemskerk-Gerritsen ◽  
Agnes Jager ◽  
Linetta B. Koppert ◽  
A. Inge-Marie Obdeijn ◽  
Margriet Collée ◽  
...  

Menopause ◽  
2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Sheila Shanmugan ◽  
Mary D. Sammel ◽  
James Loughead ◽  
Kosha Ruparel ◽  
Ruben C. Gur ◽  
...  

2014 ◽  
Vol 32 (15_suppl) ◽  
pp. 1508-1508 ◽  
Author(s):  
Susan M. Domchek ◽  
Jiaqi Li ◽  
Laura Digiovanni ◽  
Chan Voong ◽  
Rebecca Mueller ◽  
...  

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