-
Mashup Score: 1Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study - 1 year(s) ago
Background Approximately 10% of gastric cancers (GCs) are associated with strong familial clustering and can be attributed to genetic predisposition. Homologous recombination deficiency (HRD) leads to genomic instability and accumulation of genetic variations, playing an important role in the development and progression of cancer. We aimed to delineate the germline mutation characteristics of…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
-
Mashup Score: 1
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1 , BRCA2 , MLH1 , MSH2 , MSH6 , BRIP1 , PALB2 , RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guidelines around clinical management of cancer risk in patients with GPV in BRCA1 , BRCA2 , MLH1 , MSH2 and MSH6 , there are few guidelines on how to manage the…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
UK guidelines for clinical management of cancer risk in patients with pathogenic variants in #RAD51C #RAD51D #BRIP1 #PALB2 #OpenAccess - https://t.co/Yq69UpxPom @Helen_Hanson1 @Anju__Kulkarni @antonis02 @ProfManchanda @clare__turnbull @ER_Woodward @tischkowitz @UKCGG #Cancer https://t.co/EBiGX3pao7
-
-
Mashup Score: 0
Germline loss-of-function mutations in BRCA1 interacting protein C-terminal helicase 1 (BRIP1) are associated with ovarian carcinoma and may also contribute to breast cancer risk, particularly among patients who develop disease at an early age. Normal BRIP1 activity is required for DNA interstrand cross-link (ICL) repair and is thus central to the maintenance of genome stability. Although…
Source: Cancer ResearchCategories: Hem/Onc News and JournalsTweet-
Moyer at al find that rare missense alleles in #BRIP1 gene confer risk for both #BreastCancer and #OvarianCancer. @OSUCCC_James https://t.co/8UuvKkA2z9 https://t.co/9acaKIFyoV
-
Homologous recombination deficiency (HRD) leads plays an important role in the development and progression of gastric #cancer - a large-scale retrospective cohort in China #OpenAccess here: https://t.co/lSmXWkz2qN #ATM #BRIP1 #BRCA1 #BRCA2 #FANCA #PALB2 #Genetics #Genomics https://t.co/K2JxBxoMqg