BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. (Record no. 22021988)

MARC details
000 -LEADER
fixed length control field 02544 a2200781 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516105115.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201212s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1468-6244
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1136/jmedgenet-2012-101037
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Spurdle, Amanda B
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20121228
245 00 - TITLE STATEMENT
Title BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of medical genetics
Date of publication, distribution, etc. Aug 2012
300 ## - PHYSICAL DESCRIPTION
Extent 525-32 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element BRCA1 Protein
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Breast Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotyping Techniques
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HEK293 Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Likelihood Functions
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ovarian Neoplasms
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Penetrance
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Predictive Value of Tests
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Risk Factors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Transcriptional Activation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Whiley, Phillip J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thompson, Bryony
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Feng, Bingjian
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Healey, Sue
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brown, Melissa A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pettigrew, Christopher
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Asperen, Christi J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ausems, Margreet G E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kattentidt-Mouravieva, Anna A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van den Ouweland, Ans M W
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lindblom, Annika
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pigg, Maritta H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schmutzler, Rita K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Engel, Christoph
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Meindl, Alfons
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Caputo, Sandrine
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sinilnikova, Olga M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lidereau, Rosette
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Couch, Fergus J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guidugli, Lucia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hansen, Thomas van Overeem
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Thomassen, Mads
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Eccles, Diana M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tucker, Kathy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Benitez, Javier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Domchek, Susan M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toland, Amanda E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Van Rensburg, Elizabeth J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wappenschmidt, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Borg, Åke
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vreeswijk, Maaike P G
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Goldgar, David E
773 0# - HOST ITEM ENTRY
Title Journal of medical genetics
Related parts vol. 49
-- no. 8
-- p. 525-32
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1136/jmedgenet-2012-101037">https://doi.org/10.1136/jmedgenet-2012-101037</a>
Public note Available from publisher's website

No items available.