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:
https://lup.lub.lu.se/record/3634666
- author
- Kuusisto, Kirsi M
; Bebel, Aleksandra
; Vihinen, Mauno
LU
; Schleutker, Johanna
and Sallinen, Satu-Leena
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Breast Cancer Research
- volume
- 13
- issue
- 1
- article number
- R20
- publisher
- BioMed Central (BMC)
- 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
- 2016-04-04 07:06:18
- date last changed
- 2022-04-23 07:46:25
@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.}},
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 (BMC)}},
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}},
doi = {{10.1186/bcr2832}},
volume = {{13}},
year = {{2011}},
}