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BRCA Mutations and Fertility Preservation [PDF]
Hereditary cancers mostly affect the adolescent and young adult population (AYA) at reproductive age. Mutations in BReast CAncer (BRCA) genes are responsible for the majority of cases of hereditary breast and ovarian cancer. BRCA1 and BRCA2 act as tumor suppressor genes as they are key regulators of DNA repair through homologous recombination. Evidence
Joana Dias Nunes +2 more
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BRCA mutations and reproduction [PDF]
Deleterious mutations in BRCA1 or BRCA2 genes have long been recognized as independent risk factors, mostly for breast and ovarian cancer. Numerous studies have evaluated the molecular processes involving these genes, the pathophysiology of BRCAness, follow up options and modes of prophylaxis.
Hagit, Daum, Tamar, Peretz, Neri, Laufer
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Pancreatic Cancer: Beyond Brca Mutations
Pancreatic cancer is the fourth-leading cause of cancer-related deaths worldwide. The outcomes in patients with pancreatic cancer remain unsatisfactory. In the current review, we summarize the genetic and epigenetic architecture of metastatic pancreatic cancer beyond the BRCA mutations, focusing on the genetic alterations and the molecular pathology in
Vincenzo Ricci +7 more
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Fertility preservation in patients with BRCA mutation [PDF]
Evidence suggests a likely negative impact of deleterious BRCA mutations on female fertility. Hence, different studies have aimed to address the reproductive potential and performance of fertility preservation strategies in BRCA-mutated breast cancer patients with a prime focus on their safety and efficacy.
Ghunaim, Suleiman +3 more
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Treatment of women with BRCA mutation
The cumulative risk for breast and ovarian cancer is high in BRCA1 or BRCA2 mutation carriers. The lifetime risk of breast cancer by the age of 80 years is respectively up to 72% and 69% in BRCA1 and BRCA2 mutation carriers. The risk of ovarian cancer is higher (44%) in BRCA1 than in BRCA2 (17%) mutation carriers.
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Background:Expert consensus on BRCA1/2 genetic testing and clinical application in Chinese breast cancer patients recommends that BRCA1/2 testing should be performed in those with clinical risk factors, such as an early onset, triple-negative breast ...
Yifan Su +38 more
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Pathological features of BRCA-mutated breast cancer in Shenzhen, China: a single-center study [PDF]
Background Most studies on breast cancer susceptibility gene (BRCA) mutations have focused on Caucasian populations in Europe and North America. Currently, there is a lack of literature and data research in related fields in Shenzhen, China, and even in ...
Jiayu Guan +3 more
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Objective: As prostate cancer (PrC) shows a BRCA mutation rate as high as 30%, it becomes crucial to find the optimal selection criteria for genetic testing.
Laura Cortesi +10 more
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BRCA mutations and childhood cancer [PDF]
Commentary to:Childhood Cancer in Families with and without BRCA1 or BRCA2 Mutations Ascertained at a High-Risk Breast Cancer ClinicGabriel A. Brooks, Jill E. Stopfer, Julie Erlichman, Rebecca Davidson, Katherine L.
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Background and Objectives: Approximately 10–15% of high-grade serous ovarian cancer (HGSOC) cases are related to BRCA germline mutations. Better survival rates and increased chemosensitivity are reported in patients with a BRCA 1/2 germline mutation ...
Diederick De Jong +8 more
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