FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3120251128> ?p ?o ?g. }

• W3120251128 endingPage "e0236907" @default.
• W3120251128 startingPage "e0236907" @default.
• W3120251128 abstract "Identification of the population frequencies of definitely pathogenic germline variants in two major hereditary breast and ovarian cancer syndrome (HBOC) genes, BRCA1/2 , is essential to estimate the number of HBOC patients. In addition, the identification of moderately penetrant HBOC gene variants that contribute to increasing the risk of breast and ovarian cancers in a population is critical to establish personalized health care. A prospective cohort subjected to genome analysis can provide both sets of information. Computational scoring and prospective cohort studies may help to identify such likely pathogenic variants in the general population. We annotated the variants in the BRCA1 and BRCA2 genes from a dataset of 3,552 whole-genome sequences obtained from members of a prospective cohorts with genome data in the Tohoku Medical Megabank Project (TMM) with InterVar software. Computational impact scores (CADD_phred and Eigen_raw) and minor allele frequencies (MAFs) of pathogenic (P) and likely pathogenic (LP) variants in ClinVar were used for filtration criteria. Familial predispositions to cancers among the 35,000 TMM genome cohort participants were analyzed to verify the identified pathogenicity. Seven potentially pathogenic variants were newly identified. The sisters of carriers of these moderately deleterious variants and definite P and LP variants among members of the TMM prospective cohort showed a statistically significant preponderance for cancer onset, from the self-reported cancer history. Filtering by computational scoring and MAF is useful to identify potentially pathogenic variants in BRCA genes in the Japanese population. These results should help to follow up the carriers of variants of uncertain significance in the HBOC genes in the longitudinal prospective cohort study." @default.
• W3120251128 created "2021-01-18" @default.
• W3120251128 creator A5002837769 @default.
• W3120251128 creator A5003779897 @default.
• W3120251128 creator A5004453528 @default.
• W3120251128 creator A5004955803 @default.
• W3120251128 creator A5013972052 @default.
• W3120251128 creator A5015702514 @default.
• W3120251128 creator A5018416641 @default.
• W3120251128 creator A5023073137 @default.
• W3120251128 creator A5030173885 @default.
• W3120251128 creator A5032494359 @default.
• W3120251128 creator A5046191363 @default.
• W3120251128 creator A5049356235 @default.
• W3120251128 creator A5051054725 @default.
• W3120251128 creator A5053409025 @default.
• W3120251128 creator A5064125582 @default.
• W3120251128 creator A5066657051 @default.
• W3120251128 creator A5067454062 @default.
• W3120251128 creator A5074163737 @default.
• W3120251128 date "2021-01-11" @default.
• W3120251128 modified "2023-10-16" @default.
• W3120251128 title "Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2)" @default.
• W3120251128 cites W1175815497 @default.
• W3120251128 cites W1973996035 @default.
• W3120251128 cites W1976956469 @default.
• W3120251128 cites W1984068087 @default.
• W3120251128 cites W1989280564 @default.
• W3120251128 cites W2011582941 @default.
• W3120251128 cites W2030101457 @default.
• W3120251128 cites W2037117416 @default.
• W3120251128 cites W2051978340 @default.
• W3120251128 cites W2060427373 @default.
• W3120251128 cites W2108234281 @default.
• W3120251128 cites W2126411676 @default.
• W3120251128 cites W2149441684 @default.
• W3120251128 cites W2150131459 @default.
• W3120251128 cites W2154866190 @default.
• W3120251128 cites W2160995259 @default.
• W3120251128 cites W2161669234 @default.
• W3120251128 cites W2225726427 @default.
• W3120251128 cites W2256016639 @default.
• W3120251128 cites W2259179286 @default.
• W3120251128 cites W2261193987 @default.
• W3120251128 cites W2344927539 @default.
• W3120251128 cites W2464466306 @default.
• W3120251128 cites W2474747771 @default.
• W3120251128 cites W2580887223 @default.
• W3120251128 cites W2594801147 @default.
• W3120251128 cites W2605654091 @default.
• W3120251128 cites W2612571615 @default.
• W3120251128 cites W2733586979 @default.
• W3120251128 cites W2766768286 @default.
• W3120251128 cites W2767834636 @default.
• W3120251128 cites W2768403812 @default.
• W3120251128 cites W2796208126 @default.
• W3120251128 cites W2802442746 @default.
• W3120251128 cites W2802790569 @default.
• W3120251128 cites W2805956109 @default.
• W3120251128 cites W2888065522 @default.
• W3120251128 cites W2889874867 @default.
• W3120251128 cites W2893632651 @default.
• W3120251128 cites W2894556446 @default.
• W3120251128 cites W2899821254 @default.
• W3120251128 cites W2903710127 @default.
• W3120251128 cites W2905452503 @default.
• W3120251128 cites W2905840501 @default.
• W3120251128 cites W2913822366 @default.
• W3120251128 cites W2946345857 @default.
• W3120251128 cites W2952780392 @default.
• W3120251128 cites W2953534996 @default.
• W3120251128 cites W2968820602 @default.
• W3120251128 cites W3006500278 @default.
• W3120251128 doi "https://doi.org/10.1371/journal.pone.0236907" @default.
• W3120251128 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7799847" @default.
• W3120251128 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33428613" @default.
• W3120251128 hasPublicationYear "2021" @default.
• W3120251128 type Work @default.
• W3120251128 sameAs 3120251128 @default.
• W3120251128 citedByCount "7" @default.
• W3120251128 countsByYear W31202511282021 @default.
• W3120251128 countsByYear W31202511282022 @default.
• W3120251128 countsByYear W31202511282023 @default.
• W3120251128 crossrefType "journal-article" @default.
• W3120251128 hasAuthorship W3120251128A5002837769 @default.
• W3120251128 hasAuthorship W3120251128A5003779897 @default.
• W3120251128 hasAuthorship W3120251128A5004453528 @default.
• W3120251128 hasAuthorship W3120251128A5004955803 @default.
• W3120251128 hasAuthorship W3120251128A5013972052 @default.
• W3120251128 hasAuthorship W3120251128A5015702514 @default.
• W3120251128 hasAuthorship W3120251128A5018416641 @default.
• W3120251128 hasAuthorship W3120251128A5023073137 @default.
• W3120251128 hasAuthorship W3120251128A5030173885 @default.
• W3120251128 hasAuthorship W3120251128A5032494359 @default.
• W3120251128 hasAuthorship W3120251128A5046191363 @default.
• W3120251128 hasAuthorship W3120251128A5049356235 @default.
• W3120251128 hasAuthorship W3120251128A5051054725 @default.
• W3120251128 hasAuthorship W3120251128A5053409025 @default.

• next