Hereditary Cancers(遗传性癌症)研究综述
Hereditary Cancers 遗传性癌症 - Aim To reveal current problems and challenges faced by our gynecologic services department in managing patients with hereditary cancers. [1] e22000Background: Oncology professionals need to access a wide range of genetic tests, including tests for cancer biomarkers, predisposition to hereditary cancers, and pharmacogenetic tests. [2] Targeted gene panel testing has the power to interrogate hundreds of genes and evaluate the genetic risk for many types of hereditary cancers simultaneously. [3] OBJECTIVE The universal genetic testing initiative (UGTI) is a quality improvement effort to increase rates of guideline-based genetic counseling (GC) and genetic testing (GT) of patients with potentially hereditary cancers. [4] Hereditary cancers with cancer-predisposing mutations represent unique models of human oncogenesis, as a driving oncogenic event is present in germline. [5] Hereditary cancers are suspected in women presenting with gynecological malignancies at a relatively young age or with a family history of cancer, usually of a specific cancer syndrome, in two or more relatives. [6] Background: Gene panels are routinely used to assess predisposition to hereditary cancers by simultaneously testing multiple susceptibility genes and/or variants. [7] Similarly, TRANSPERS surveys of representatives of payers regarding why multigene panels of tumor testing for hereditary cancers were not covered found that the primary reason offered was that such testing does not fit the standard coverage framework that requires evidence of clinical benefit to justify a treatment as “medically necessary. [8] In the current study we aimed to characterize pathogenic germline mutations in TNBC patients fulfilling NCCN criteria of hereditary cancers from Russian Federation. [9] Four focus groups (FG) were formed: parents of patients with undiagnosed rare diseases (FG1, n = 5); patients with hereditary cancers (FG2, n = 10); patients with hereditary cardiac conditions (FG3, n = 3); and patients with metabolic diseases (FG4, n = 3). [10] The missense mutation in the mismatch repair gene MSH2 underlies in several hereditary cancers. [11] One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. [12] Objective Germline alterations in the breast cancer susceptibility genes type 1 and 2, BRCA1 and BRCA2, predispose individuals to hereditary cancers, including breast, ovarian, prostate, pancreatic, and stomach cancers. [13] Los conocimientos sobre cancer hereditario son deficitarios y variables segun las zonas y hay un desconocimiento generalizado sobre la existencia de unidades de consejo genetico y cancer hereditario EnglishAims To assess the knowledge and attitude among general practitioners in Andalusia on the identification of subjects with elevated risk for breast cancer, colorectal cancer, and hereditary cancers, as well as to detect barriers to accessibility to the screening programs. [14] Commercially available germline and somatic testing modalities have the downstream benefits of enabling prevention strategies in women with hereditary cancers and their family members in addition to identifying women who benefit most from novel targeted therapeutics. [15] 9% to 38% among families with genetic predisposition toward hereditary cancers. [16] Background Conventional methods used to identify BRCA1 and BRCA2 germline mutations in hereditary cancers, such as Sanger sequencing/multiplex ligation-dependent probe amplification (MLPA), are time-consuming and expensive, due to the large size of the genes. [17] e13161Background: Capturing family health history is a simple and cost-effective way to identify individuals at increased risk for hereditary cancers. [18] Theory-based communication strategies are needed to increase the understanding of the implications of being at low risk for hereditary cancers. [19] People at risk of developing hereditary cancers associated with Lynch Syndrome (LS) can be identified through universal screening of colorectal tumors. [20] Hereditary cancers with cancer-predisposing mutations represent unique models of human oncogenesis as a driving oncogenic event is present in germline, exposing the healthy member of a family to the occurrence of cancer. [21] A pedagogical embodied conversational agent that plays the role of a genetic counselor is being developed to improve individuals’ comprehension of genetic risks related to hereditary cancers. [22] Background In hereditary cancers, disclosure of genetic testing and communication of genetic information to family members is crucial to manage their potential cancer risk. [23] Routine use of MCPT increases the diagnostic yield for major hereditary cancers such as breast, ovarian, and colon, with the identification of pathogenic variants in high- and moderate-penetrance genes. [24] Background: Conventional methods used to identify BRCA1 and BRCA2 germline mutations in hereditary cancers, such as Sanger sequencing/MLPA, are time-consuming and expensive, due to the large size of the genes. [25][1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] [24] [25]