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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 pathog...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_71636296

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

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Publisher

Boston: Springer US

Journal title

Breast cancer research and treatment, 2008-07, Vol.110 (2), p.377-385

Language

English

Formats

Publication information

Publisher

Boston: Springer US

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

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

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