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Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

Abstract：

:BRCA1 and BRCA2 genes were screened for loss-of-function mutations in a series of 85 patients having at least one first- or second-degree relative affected by breast and/or ovarian cancer. All BRCA1 exons and BRCA2 exons 10 and 11 were screened with a combination of methods including SSCP, PTT and direct sequencing. We have found disease-associated mutations in 14 families (16.5%), eleven in BRCA1 and three in BRCA2. The known founder mutation 5382insC of BRCA1 was identified in seven unrelated families. The other mutations identified include the non-sense R1751X, the splice junction variant 5586G>A of BRCA1 and three frameshifts, 2024del5, 3034del4, and 6631del5, of BRCA2. Nine out of these 14 families had a family history of three or more breast/ovarian cancer cases. A large number of polymorphic or unclassified variants is also reported. Combined with our previously published data 5382insC was found in nine out of 20 families (45%), suggesting that this mutation may represent a common founder mutation in the Greek population.

journal_name

Cancer Lett

journal_title

Cancer letters

authors

Ladopoulou A,Kroupis C,Konstantopoulou I,Ioannidou-Mouzaka L,Schofield AC,Pantazidis A,Armaou S,Tsiagas I,Lianidou E,Efstathiou E,Tsionou C,Panopoulos C,Mihalatos M,Nasioulas G,Skarlos D,Haites NE,Fountzilas G,Pandis N

doi

10.1016/s0304-3835(01)00845-x

keywords:

subject

Has Abstract

pub_date

2002-11-08 00:00:00

pages

61-70

issue

1

eissn

0304-3835

issn

1872-7980

pii

S030438350100845X

journal_volume

185

pub_type

杂志文章

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