G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathog...
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history
About this item
Full title
Author / Creator
Publisher
Boston: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
Boston: Springer US
Subjects
More information
Scope and Contents
Contents
We have performed screening in 287 breast/ovarian cancer families in Greece which has revealed that ∼12% (8/65) of all index patients-carriers of a deleterious mutation in
BRCA1
and
BRCA2
genes, contain the base substitution G to A at position 5331 of
BRCA1
gene. This generates the amino acid change G1738R for which based on a com...
Alternative Titles
Full title
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_71636296
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71636296
Other Identifiers
ISSN
0167-6806
E-ISSN
1573-7217
DOI
10.1007/s10549-007-9729-y