Looking for BRCA1 and BRCA2 mutations in Asian women with breast cancer

Narod, Steven A.

doi:10.21037/atm-23-348

Cited by 13 publications

(23 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…About 5%-10% of all BC and 10%-15% of all OC cases are associated with germ-line mutations (Kobayashi et al, 2013) that are responsible for 50% disease aggregation in families (Balmana et al, 2011). Hereditary cancer-associated mutations include frameshift, nonsense, missense mutations altering protein function, splice mutations leading to truncation and large genomic rearrangements (Narod & Salmena, 2011;Walsh et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

“…About 5%–10% of all BC and 10%–15% of all OC cases are associated with germ‐line mutations (Kobayashi et al., 2013) that are responsible for 50% disease aggregation in families (Balmana et al., 2011). Hereditary cancer‐associated mutations include frameshift, nonsense, missense mutations altering protein function, splice mutations leading to truncation and large genomic rearrangements (Narod & Salmena, 2011; Walsh et al., 2006). Deleterious BRCA1 mutations are related to unfavourable histopathological characteristics such as triple negative BRCA (Kuchenbaecker et al., 2014; Mavaddat et al., 2012) and poorly differentiated tumours (Veronesi et al., 2005).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Possible impact of HLA class I and class II on malignancies driven by a single germ‐line BRCA1 mutation

Ivanova¹,

Ormandjieva²,

Dodova

et al. 2023

Int J Immunogenetics

View full text Add to dashboard Cite

This study provides the first immunogenetic preliminary evidence that specific human leucocyte antigen (HLA) class I and class II alleles and haplotypes may be relevant for BRCA1 c.5263_5264insC driven oncogenesis. Observed HLA associations might have practical implications for establishment of predictive markers for the response to immunotherapies in malignancies driven by this germ‐line mutation.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Possible impact of HLA class I and class II on malignancies driven by a single germ‐line BRCA1 mutation

Ivanova¹,

Ormandjieva²,

Dodova

et al. 2023

Int J Immunogenetics

View full text Add to dashboard Cite

show abstract

“…It is well established that BRCA gene mutations contribute to the increased risk of hereditary breast cancer ( 2 , 111 , 112 ). The prevention strategies (genetic screening) and therapies designed to target and diminish the actions of these genes, such as Olaparib, have been shown to be effective ( 113 ).…”

Section: Discussionmentioning

confidence: 99%

Clinical trial-identified inflammatory biomarkers in breast and pancreatic cancers

et al. 2023

View full text Add to dashboard Cite

Breast cancer and pancreatic cancer are two common cancer types characterized by high prevalence and high mortality rates, respectively. However, breast cancer has been more well-studied than pancreatic cancer. This narrative review curated inflammation-associated biomarkers from clinical studies that were systematically selected for both breast and pancreatic cancers and discusses some of the common and unique elements between the two endocrine-regulated malignant diseases. Finding common ground between the two cancer types and specifically analyzing breast cancer study results, we hoped to explore potential feasible methods and biomarkers that may be useful also in diagnosing and treating pancreatic cancer. A PubMed MEDLINE search was used to identify articles that were published between 2015-2022 of different kinds of clinical trials that measured immune-modulatory biomarkers and biomarker changes of inflammation defined in diagnosis and treatment of breast cancer and pancreatic cancer patients. A total of 105 papers (pancreatic cancer 23, breast cancer 82) were input into Covidence for the title and abstract screening. The final number of articles included in this review was 73 (pancreatic cancer 19, breast cancer 54). The results showed some of the frequently cited inflammatory biomarkers for breast and pancreatic cancers included IL-6, IL-8, CCL2, CD8+ T cells and VEGF. Regarding unique markers, CA15-3 and TNF-alpha were two of several breast cancer-specific, and CA19 and IL-18 were pancreatic cancer-specific. Moreover, we discussed leptin and MMPs as emerging biomarker targets with potential use for managing pancreatic cancer based on breast cancer studies in the future, based on inflammatory mechanisms. Overall, the similarity in how both types of cancers respond to or result in further disruptive inflammatory signaling, and that point to a list of markers that have been shown useful in diagnosis and/or treatment method response or efficacy in managing breast cancer could potentially provide insights into developing the same or more useful diagnostic and treatment measurement inflammatory biomarkers for pancreatic cancer. More research is needed to investigate the relationship and associated inflammatory markers between the similar immune-associated biological mechanisms that contribute to breast and pancreatic cancer etiology, drive disease progression or that impact treatment response and reflect survival outcomes.

show abstract

“…The lifetime risk BRCA1 and BRCA2 are tumor suppressor genes; their main role is to aid in the repair of double-stranded DNA breaks via homologous recombination. 3 Homologous recombination is the primary mechanism in which double-strand breaks are repaired, and typically, is an error-free mechanism in healthy cells. Without homologous recombination, DNA repair is erroneous and leads to genomic instability.…”

Section: Discovery Of Brca1 and Brca2mentioning

confidence: 99%

“…Mutations and rearrangements within BRCA1 and BRCA2 reduce the ability for DNA damage repair, causing genetic instability and increased risk of malignancy. 3…”

Section: Discovery Of Brca1 and Brca2mentioning

confidence: 99%

Hereditary Breast and Ovarian Cancer: A Review of Genetic Testing and Management of High-Risk Patients

Kirsch,

Watson,

Kuller

et al. 2022

Topics in Obstetrics &Amp; Gynecology

View full text Add to dashboard Cite

Looking for BRCA1 and BRCA2 mutations in Asian women with breast cancer

Cited by 13 publications

References 23 publications

Possible impact of HLA class I and class II on malignancies driven by a single germ‐line BRCA1 mutation

Possible impact of HLA class I and class II on malignancies driven by a single germ‐line BRCA1 mutation

Clinical trial-identified inflammatory biomarkers in breast and pancreatic cancers

Hereditary Breast and Ovarian Cancer: A Review of Genetic Testing and Management of High-Risk Patients

Contact Info

Product

Resources

About