FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2043622855> ?p ?o ?g. }

• W2043622855 endingPage "634" @default.
• W2043622855 startingPage "624" @default.
• W2043622855 abstract "Objectives To detail characterization of mutations and uncharacterized variants in the breast cancer susceptibility genes BRCA1 and BRCA2, as observed in a population of breast cancer patients from the southeastern United States, and to examine baseline characteristics of women referred for counseling and testing and provide a preliminary look at how counseling and testing affected intentions toward prophylactic surgery. Background Mutations in the BRCA1 and BRCA2 genes give rise to a dramatically increased risk of developing breast or ovarian cancer or both. There are many reports about special populations in which deleterious mutations are present at a high frequency. It is useful to study these genes in more heterogeneous populations, reflecting different geographic regions. Interest in preventive surgery for gene carriers is high in women and their surgeons. Methods Women were recruited through a prospective clinical trial of counseling and free genetic testing. BRCA1 and BRCA2 were screened for mutations using standard techniques, and results were given to participants. Baseline questionnaires determined interest in preventive surgery at the beginning of the study. Follow-up questionnaires for those who completed testing surveyed interest in prophylactic surgery after counseling and receiving test results. Results Of 213 women who completed counseling and testing, 44 (20.6%) had 29 separate mutations; there were 11 Jewish women carrying three founder mutations. Twenty-eight women (13.1%) had uncharacterized variants in BRCA1 or BRCA2; nine were not previously reported. Women overestimated their chances of possessing a deleterious gene mutation compared to a statistical estimate of carrier risk. A number of women changed their intentions toward preventive surgery after genetic counseling and testing. Conclusions Hereditary breast cancer due to mutations in BRCA1 and BRCA2 was a heterogeneous syndrome in the southeastern United States. Most mutations were seen just once, and uncharacterized variants were common and of uncertain clinical significance. In general, positive test results tended to reinforce intentions toward prophylactic surgery. In contrast, women not interested in surgery at the time of entry tended to remain reluctant after testing and counseling." @default.
• W2043622855 created "2016-06-24" @default.
• W2043622855 creator A5005726073 @default.
• W2043622855 creator A5023962358 @default.
• W2043622855 creator A5031919814 @default.
• W2043622855 creator A5033173720 @default.
• W2043622855 creator A5036497040 @default.
• W2043622855 creator A5062582318 @default.
• W2043622855 creator A5063929778 @default.
• W2043622855 creator A5065532717 @default.
• W2043622855 creator A5067102201 @default.
• W2043622855 creator A5068672834 @default.
• W2043622855 creator A5070245248 @default.
• W2043622855 date "2000-05-01" @default.
• W2043622855 modified "2023-10-11" @default.
• W2043622855 title "Testing for Hereditary Breast and Ovarian Cancer in the Southeastern United States" @default.
• W2043622855 cites W121553317 @default.
• W2043622855 cites W1455537465 @default.
• W2043622855 cites W1483922935 @default.
• W2043622855 cites W1491929341 @default.
• W2043622855 cites W177339463 @default.
• W2043622855 cites W1869064701 @default.
• W2043622855 cites W189105684 @default.
• W2043622855 cites W1934378440 @default.
• W2043622855 cites W1986916340 @default.
• W2043622855 cites W1993342975 @default.
• W2043622855 cites W1996894486 @default.
• W2043622855 cites W2005351661 @default.
• W2043622855 cites W2030093162 @default.
• W2043622855 cites W2049608142 @default.
• W2043622855 cites W2055294712 @default.
• W2043622855 cites W2055985641 @default.
• W2043622855 cites W2063620098 @default.
• W2043622855 cites W2069457741 @default.
• W2043622855 cites W2078705596 @default.
• W2043622855 cites W2085005746 @default.
• W2043622855 cites W2086199722 @default.
• W2043622855 cites W2109465247 @default.
• W2043622855 cites W2117897733 @default.
• W2043622855 cites W2126101401 @default.
• W2043622855 cites W2127143133 @default.
• W2043622855 cites W2139892288 @default.
• W2043622855 cites W2143698296 @default.
• W2043622855 cites W2147047601 @default.
• W2043622855 cites W2172587239 @default.
• W2043622855 cites W2247077724 @default.
• W2043622855 cites W2328105863 @default.
• W2043622855 cites W2414301030 @default.
• W2043622855 cites W2467897002 @default.
• W2043622855 cites W4229632498 @default.
• W2043622855 cites W4231863215 @default.
• W2043622855 cites W4246828358 @default.
• W2043622855 doi "https://doi.org/10.1097/00000658-200005000-00002" @default.
• W2043622855 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1421049" @default.
• W2043622855 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10767783" @default.
• W2043622855 hasPublicationYear "2000" @default.
• W2043622855 type Work @default.
• W2043622855 sameAs 2043622855 @default.
• W2043622855 citedByCount "19" @default.
• W2043622855 countsByYear W20436228552012 @default.
• W2043622855 countsByYear W20436228552017 @default.
• W2043622855 countsByYear W20436228552022 @default.
• W2043622855 countsByYear W20436228552023 @default.
• W2043622855 crossrefType "journal-article" @default.
• W2043622855 hasAuthorship W2043622855A5005726073 @default.
• W2043622855 hasAuthorship W2043622855A5023962358 @default.
• W2043622855 hasAuthorship W2043622855A5031919814 @default.
• W2043622855 hasAuthorship W2043622855A5033173720 @default.
• W2043622855 hasAuthorship W2043622855A5036497040 @default.
• W2043622855 hasAuthorship W2043622855A5062582318 @default.
• W2043622855 hasAuthorship W2043622855A5063929778 @default.
• W2043622855 hasAuthorship W2043622855A5065532717 @default.
• W2043622855 hasAuthorship W2043622855A5067102201 @default.
• W2043622855 hasAuthorship W2043622855A5068672834 @default.
• W2043622855 hasAuthorship W2043622855A5070245248 @default.
• W2043622855 hasBestOaLocation W20436228552 @default.
• W2043622855 hasConcept C121608353 @default.
• W2043622855 hasConcept C126322002 @default.
• W2043622855 hasConcept C143998085 @default.
• W2043622855 hasConcept C2780194787 @default.
• W2043622855 hasConcept C2780427987 @default.
• W2043622855 hasConcept C2780673598 @default.
• W2043622855 hasConcept C2908647359 @default.
• W2043622855 hasConcept C29456083 @default.
• W2043622855 hasConcept C530470458 @default.
• W2043622855 hasConcept C54355233 @default.
• W2043622855 hasConcept C71924100 @default.
• W2043622855 hasConcept C80227256 @default.
• W2043622855 hasConcept C86803240 @default.
• W2043622855 hasConcept C99454951 @default.
• W2043622855 hasConceptScore W2043622855C121608353 @default.
• W2043622855 hasConceptScore W2043622855C126322002 @default.
• W2043622855 hasConceptScore W2043622855C143998085 @default.
• W2043622855 hasConceptScore W2043622855C2780194787 @default.
• W2043622855 hasConceptScore W2043622855C2780427987 @default.
• W2043622855 hasConceptScore W2043622855C2780673598 @default.
• W2043622855 hasConceptScore W2043622855C2908647359 @default.
• W2043622855 hasConceptScore W2043622855C29456083 @default.

• next