Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers

Buckley, Kole H.; Niccum, Blake; Maxwell, Kara N.; Katona, Bryson W.

doi:10.3390/cancers14235953

Cited by 22 publications

(15 citation statements)

References 80 publications

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“…Strict cancer surveillance and risk-decreasing prophylactic surgeries have become a central component in the management of BRCA1/2 PV and LPV carriers [ 2 ]. BRCA 1/2 PVs and LPVs are commonly associated with breast and ovarian cancers along with other malignancies involving the prostate, pancreas and stomach [ 3 ]. In particular, Pancreatic Ductal Adenocarcinoma (PDAC) represents one of the most aggressive tumors, with a 5-year survival rate of 8% [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Zampiga

Cangini

Bandini

et al. 2023

Cancers

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PVs and LPVs in BRCA1/2 genes are correlated to a high risk of developing breast cancer and/or ovarian cancer (Hereditary Breast and Ovarian Cancer syndrome, HBOC); additionally, in recent years, an increasing number of BRCA 1/2 variants have been identified and associated with pancreatic cancer. Epidemiologic studies have highlighted that inherited factors are involved in 10% to 20% of PCs, mainly through deleterious variants of BRCA2. The frequency of BRCA1/2 germline alterations fluctuates quite a lot among different ethnic groups, and the estimated rate of PVs/LPVs variants in Italian HBOC families is not very accurate, according to different reports. The aim of our study is to describe the prevalence of a BRCA2 PV observed in a selected cohort of HBOC patients and their relatives, whose common origin is the eastern coast of Emilia Romagna, a region of Italy. This study provides insight into the frequency of the variant detected in this area and provides evidence of an increased risk of pancreatic and breast cancer, useful for genetic counseling and surveillance programs.

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Section: Introductionmentioning

confidence: 99%

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Zampiga

Cangini

Bandini

et al. 2023

Cancers

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“…The RET (rearranged during transfection) is a well-known gene involved in the development and progression of several types of cancers, particularly medullary thyroid cancer and multiple endocrine neoplasia type 2 (MEN 2) [ 35 ]. The RET protein is a tyrosine kinase receptor that plays a crucial role in signaling pathways that regulate cell growth, differentiation, and survival [ 36 ]. Mutations in the RET gene can result in the activation of the oncogenic potential of the RET protein, thus contributing to the development of cancer.…”

Section: Discussionmentioning

confidence: 99%

The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic

Bilyalov,

Nikolaev,

Danishevich

et al. 2023

CIMB

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Gastric cancer is a major challenge in modern oncology due to its high detection rate and prevalence. While sporadic cases make up the majority of gastric cancer, hereditary gastric cancer is caused by germline mutations in several genes linked to different syndromes. Thus, identifying hereditary forms of gastric cancer is considered crucial globally. A survey study using NGS-based analysis was conducted to determine the frequency of different types of hereditary gastric cancer in the yet-unstudied Kyrgyz population. The study cohort included 113 patients with diagnosed gastric cancer from Kyrgyzstan. The age of patients was 57.6 ± 8.9. Next-generation sequencing analysis of genomic DNA was performed using a custom Roche NimbleGen enrichment panel. The results showed that 6.2% (7/113) of the patients had pathogenic or likely pathogenic genetic variants. Additionally, 3.5% (4/113) of the patients carried heterozygous pathogenic/likely pathogenic variants in high penetrance genes, such as TP53, POLD1, RET, and BRCA2. Moreover, 2.7% (3/113) of the patients carried heterozygous mutations in genes linked to autosomal recessive conditions, specifically PALB2, FANCA, and FANCD2. We have not identified any genetic variants in hereditary GC-associated genes: CDH1, STK11, SMAD4, BMPRIA, APC, MLH1, and others. Our study included patients with sporadic features of GC. The use of recognized criteria (NCCN, Gastric Cancer, Version 2.2022) would increase the number of identified genetic variants in hereditary GC-associated genes. Further research is required to determine the clinical relevance of the genetic variants identified in the current study.

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“…In sporadic GC cases, mutations and the abnormal methylation of CDH1 are predominantly found in diffuse GC [ 86 , 87 ]. Other key mutations in GC include those within the ARID1A , PIK3CA , or BRCA2 genes [ 88 , 89 , 90 ].…”

Section: Gastric Cancer Characterization Prognosis and Management In ...mentioning

confidence: 99%

Molecular Classifications in Gastric Cancer: A Call for Interdisciplinary Collaboration

Díaz del Arco,

Fernández Aceñero,

Ortega Medina

2024

IJMS

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Gastric cancer (GC) is a heterogeneous disease, often diagnosed at advanced stages, with a 5-year survival rate of approximately 20%. Despite notable technological advancements in cancer research over the past decades, their impact on GC management and outcomes has been limited. Numerous molecular alterations have been identified in GC, leading to various molecular classifications, such as those developed by The Cancer Genome Atlas (TCGA) and the Asian Cancer Research Group (ACRG). Other authors have proposed alternative perspectives, including immune, proteomic, or epigenetic-based classifications. However, molecular stratification has not yet transitioned into clinical practice for GC, and little attention has been paid to alternative molecular classifications. In this review, we explore diverse molecular classifications in GC from a practical point of view, emphasizing their relationships with clinicopathological factors, prognosis, and therapeutic approaches. We have focused on classifications beyond those of TCGA and the ACRG, which have been less extensively reviewed previously. Additionally, we discuss the challenges that must be overcome to ensure their impact on patient treatment and prognosis. This review aims to serve as a practical framework to understand the molecular landscape of GC, facilitate the development of consensus molecular categories, and guide the design of innovative molecular studies in the field.

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Gastric Cancer Risk and Pathogenesis in BRCA1 and BRCA2 Carriers

Cited by 22 publications

References 80 publications

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic

Molecular Classifications in Gastric Cancer: A Call for Interdisciplinary Collaboration

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