Sökning: WFRF:(Henriksson Niklas) >
BRCAsearch : writte...
-
Nilsson, Martin P.Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
(författare)
BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
- Artikel/kapitelEngelska2018
Förlag, utgivningsår, omfång ...
-
2017-11-21
-
Springer Science and Business Media LLC,2018
Nummerbeteckningar
-
LIBRIS-ID:oai:lup.lub.lu.se:b0dd591e-87a9-48b4-9e2c-a3a8fc4086f4
-
https://lup.lub.lu.se/record/b0dd591e-87a9-48b4-9e2c-a3a8fc4086f4URI
-
https://doi.org/10.1007/s10549-017-4584-yDOI
Kompletterande språkuppgifter
-
Språk:engelska
-
Sammanfattning på:engelska
Ingår i deldatabas
Klassifikation
-
Ämneskategori:art swepub-publicationtype
-
Ämneskategori:ref swepub-contenttype
Anmärkningar
-
Purpose: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. Methods: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling. Results: During the period Feb 2, 2015–Aug 26, 2016, eight hundred and eighteen patients were invited to participate in the study. Through Jan 31, 2017, five hundred and forty-two (66.2%) of them consented to analysis of BRCA1 and BRCA2. Eleven pathogenic mutations were found (BRCA1, n = 2; BRCA2, n = 9), corresponding to a mutation prevalence of 2.0%. Six out of 11 fulfilled the Swedish BRCA testing criteria, and 9 out of 11 fulfilled the NCCN testing criteria. None of the BRCA-associated tumors were of the luminal A-like subtype. Very few patients contacted us for telephone genetic counseling or practical questions, suggesting that a majority felt that the written pre-test information was sufficient for them to make a decision on testing. Conclusions: Streamlining the process of pre-test information, genetic testing, and delivery of test results was feasible and was associated with an uptake of genetic testing in 2/3 of the breast cancer patients.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
-
Törngren, ThereseLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)onk-tsa
(författare)
-
Henriksson, KarinRegional Laboratories Region Skåne
(författare)
-
Kristoffersson, UlfLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Regional Laboratories Region Skåne(Swepub:lu)kgen-ukr
(författare)
-
Kvist, AndersLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)ekol-akv
(författare)
-
Silfverberg, BarbroRegional Laboratories Region Skåne
(författare)
-
Borg, ÅkeLund University,Lunds universitet,Familjär bröstcancer,Forskargrupper vid Lunds universitet,Familial Breast Cancer,Lund University Research Groups(Swepub:lu)onk-abo
(författare)
-
Loman, NiklasLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)onk-nlo
(författare)
-
TumörmikromiljöSektion I
(creator_code:org_t)
Sammanhörande titlar
-
Ingår i:Breast Cancer Research and Treatment: Springer Science and Business Media LLC168:1, s. 117-1260167-68061573-7217
Internetlänk
Hitta via bibliotek
Till lärosätets databas