FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2002071091> ?p ?o ?g. }

• W2002071091 endingPage "158" @default.
• W2002071091 startingPage "150" @default.
• W2002071091 abstract "In this proof-of-principle study, we sought to define whether targeted capture massively parallel sequencing can be employed to determine the origin of metastatic deposits in cases of synchronous primary malignancies and metastases in distinct anatomical sites. DNA samples extracted from synchronous tumor masses in the breast, adnexal, and pelvic-peritoneal regions from a 62-year-old BRCA1 germline mutation carrier were subjected to targeted massively parallel sequencing using a platform comprising 300 cancer genes known to harbor actionable mutations. In addition to BRCA1 germline mutations, all lesions harbored somatic loss of the BRCA1 wild-type allele and TP53 somatic mutations. The primary breast cancer displayed a TP53 frameshift (p.Q317fs) mutation, whereas and the adnexal lesion harbored a TP53 nonsense (p.R213*) mutation, consistent with a diagnosis of two independent primary tumors (i.e. breast and ovarian cancer). The adnexal tumor and all pelvic-peritoneal implants harbored identical TP53 (p.R213*) and NCOA2 (p.G952R) somatic mutations. Evidence of genetic heterogeneity within and between lesions was observed, both in terms of somatic mutations and copy number aberrations. The repertoires of somatic genetic aberrations found in the breast, ovarian, and pelvic-peritoneal lesions provided direct evidence in support of the distinct origin of the breast and ovarian cancers, and established that the pelvic-peritoneal implants were clonally related to the ovarian lesion. These observations were consistent with those obtained with immunohistochemical analyses employing markers to differentiate between carcinomas of the breast and ovary, including WT1 and PAX8. Our results on this case of a patient with BRCA1-mutant breast and ovarian cancer demonstrate that massively parallel sequencing may constitute a useful tool to define the relationship, clonality and intra-tumor genetic heterogeneity between primary tumor masses and their metastatic deposits in patients with multiple primary malignancies and synchronous metastases." @default.
• W2002071091 created "2016-06-24" @default.
• W2002071091 creator A5001209967 @default.
• W2002071091 creator A5009105564 @default.
• W2002071091 creator A5016200153 @default.
• W2002071091 creator A5017466693 @default.
• W2002071091 creator A5033987639 @default.
• W2002071091 creator A5037092952 @default.
• W2002071091 creator A5040506127 @default.
• W2002071091 creator A5042749420 @default.
• W2002071091 creator A5057848295 @default.
• W2002071091 creator A5064766886 @default.
• W2002071091 creator A5077235697 @default.
• W2002071091 creator A5081259888 @default.
• W2002071091 date "2013-10-31" @default.
• W2002071091 modified "2023-10-18" @default.
• W2002071091 title "Establishing the origin of metastatic deposits in the setting of multiple primary malignancies: The role of massively parallel sequencing" @default.
• W2002071091 cites W1487410601 @default.
• W2002071091 cites W1550376883 @default.
• W2002071091 cites W1968048579 @default.
• W2002071091 cites W1980403918 @default.
• W2002071091 cites W1985384725 @default.
• W2002071091 cites W2021341670 @default.
• W2002071091 cites W2021912560 @default.
• W2002071091 cites W2023915585 @default.
• W2002071091 cites W2030922808 @default.
• W2002071091 cites W2032518018 @default.
• W2002071091 cites W2033666853 @default.
• W2002071091 cites W2050126859 @default.
• W2002071091 cites W2057004583 @default.
• W2002071091 cites W2060643602 @default.
• W2002071091 cites W2063382533 @default.
• W2002071091 cites W2075191363 @default.
• W2002071091 cites W2082594247 @default.
• W2002071091 cites W2086289230 @default.
• W2002071091 cites W2096020932 @default.
• W2002071091 cites W2097068548 @default.
• W2002071091 cites W2101264004 @default.
• W2002071091 cites W2102741362 @default.
• W2002071091 cites W2103441770 @default.
• W2002071091 cites W2113926943 @default.
• W2002071091 cites W2114234969 @default.
• W2002071091 cites W2119180969 @default.
• W2002071091 cites W2130940380 @default.
• W2002071091 cites W2135890715 @default.
• W2002071091 cites W2138601221 @default.
• W2002071091 cites W2142906250 @default.
• W2002071091 cites W2150575159 @default.
• W2002071091 cites W2151409320 @default.
• W2002071091 cites W2152061559 @default.
• W2002071091 cites W2160541773 @default.
• W2002071091 cites W2168133698 @default.
• W2002071091 doi "https://doi.org/10.1016/j.molonc.2013.10.006" @default.
• W2002071091 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5528499" @default.
• W2002071091 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24220311" @default.
• W2002071091 hasPublicationYear "2013" @default.
• W2002071091 type Work @default.
• W2002071091 sameAs 2002071091 @default.
• W2002071091 citedByCount "34" @default.
• W2002071091 countsByYear W20020710912014 @default.
• W2002071091 countsByYear W20020710912015 @default.
• W2002071091 countsByYear W20020710912016 @default.
• W2002071091 countsByYear W20020710912017 @default.
• W2002071091 countsByYear W20020710912018 @default.
• W2002071091 countsByYear W20020710912019 @default.
• W2002071091 countsByYear W20020710912020 @default.
• W2002071091 countsByYear W20020710912023 @default.
• W2002071091 crossrefType "journal-article" @default.
• W2002071091 hasAuthorship W2002071091A5001209967 @default.
• W2002071091 hasAuthorship W2002071091A5009105564 @default.
• W2002071091 hasAuthorship W2002071091A5016200153 @default.
• W2002071091 hasAuthorship W2002071091A5017466693 @default.
• W2002071091 hasAuthorship W2002071091A5033987639 @default.
• W2002071091 hasAuthorship W2002071091A5037092952 @default.
• W2002071091 hasAuthorship W2002071091A5040506127 @default.
• W2002071091 hasAuthorship W2002071091A5042749420 @default.
• W2002071091 hasAuthorship W2002071091A5057848295 @default.
• W2002071091 hasAuthorship W2002071091A5064766886 @default.
• W2002071091 hasAuthorship W2002071091A5077235697 @default.
• W2002071091 hasAuthorship W2002071091A5081259888 @default.
• W2002071091 hasBestOaLocation W20020710911 @default.
• W2002071091 hasConcept C104317684 @default.
• W2002071091 hasConcept C109825262 @default.
• W2002071091 hasConcept C121608353 @default.
• W2002071091 hasConcept C134305767 @default.
• W2002071091 hasConcept C13514818 @default.
• W2002071091 hasConcept C142724271 @default.
• W2002071091 hasConcept C192800701 @default.
• W2002071091 hasConcept C2779013556 @default.
• W2002071091 hasConcept C2780283643 @default.
• W2002071091 hasConcept C2780427987 @default.
• W2002071091 hasConcept C29906990 @default.
• W2002071091 hasConcept C501734568 @default.
• W2002071091 hasConcept C502942594 @default.
• W2002071091 hasConcept C51679486 @default.
• W2002071091 hasConcept C530470458 @default.
• W2002071091 hasConcept C54355233 @default.
• W2002071091 hasConcept C71924100 @default.

• next