Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures. (Record no. 28979859)

MARC details
000 -LEADER
fixed length control field 01613 a2200505 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518004120.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 202003s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.23676
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 Castellsagué, Ester
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20200306
245 00 - TITLE STATEMENT
Title Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. 01 2019
300 ## - PHYSICAL DESCRIPTION
Extent 36-41 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Polymerase II
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Family
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 Germ-Line Mutation
General subdivision genetics
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Neoplasms, Multiple Primary
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 Poly-ADP-Ribose Binding Proteins
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, Rui
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aligue, Rosa
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name González, Sara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sanz, Judit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Edgar
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Velasco, Àngela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Capellá, Gabriel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stewart, Colin J R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vidal, August
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Majewski, Jacek
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rivera, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Polak, Paz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Matias-Guiu, Xavier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brunet, Joan
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Foulkes, William D
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 40
-- no. 1
-- p. 36-41
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.23676">https://doi.org/10.1002/humu.23676</a>
Public note Available from publisher's website

No items available.