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Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Kuusisto, Kirsi M; Bebel, Aleksandra; Vihinen, Mauno LU ; Schleutker, Johanna and Sallinen, Satu-Leena (2011) In Breast Cancer Research 13(1).
Abstract
Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland. Additionally, rare mutations in several other genes that interact with BRCA1 and BRCA2 increase the risk of HBC. Still, a majority of HBC cases remain unexplained which is challenging for genetic counseling. We aimed to analyze additional mutations in HBC-associated genes and to define the sensitivity of our current BRCA1/2 mutation analysis protocol used in genetic counseling.
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
in
Breast Cancer Research
volume
13
issue
1
publisher
BioMed Central
external identifiers
  • pmid:21356067
  • scopus:84860389325
ISSN
1465-5411
DOI
10.1186/bcr2832
language
English
LU publication?
no
id
a0f694e6-6276-476d-9ec7-b51eca53c879 (old id 3634666)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/21356067?dopt=Abstract
date added to LUP
2013-06-12 20:42:54
date last changed
2017-10-29 04:26:57
@article{a0f694e6-6276-476d-9ec7-b51eca53c879,
  abstract     = {Two major high-penetrance breast cancer genes, BRCA1 and BRCA2, are responsible for approximately 20% of hereditary breast cancer (HBC) cases in Finland. Additionally, rare mutations in several other genes that interact with BRCA1 and BRCA2 increase the risk of HBC. Still, a majority of HBC cases remain unexplained which is challenging for genetic counseling. We aimed to analyze additional mutations in HBC-associated genes and to define the sensitivity of our current BRCA1/2 mutation analysis protocol used in genetic counseling.},
  articleno    = {R20},
  author       = {Kuusisto, Kirsi M and Bebel, Aleksandra and Vihinen, Mauno and Schleutker, Johanna and Sallinen, Satu-Leena},
  issn         = {1465-5411},
  language     = {eng},
  number       = {1},
  publisher    = {BioMed Central},
  series       = {Breast Cancer Research},
  title        = {Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.},
  url          = {http://dx.doi.org/10.1186/bcr2832},
  volume       = {13},
  year         = {2011},
}