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Literature DB >> 9585608

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.

P Huusko, K Pääkkönen, V Launonen, M Pöyhönen, G Blanco, A Kauppila, U Puistola, H Kiviniemi, M Kujala, J Leisti, R Winqvist.

Abstract

Entities: Gene Mutation

Mesh：

Substances：

Year: 1998 PMID： 9585608 PMCID： PMC1377159 DOI： 10.1086/301880

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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20 in total

Review 1. Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.

Authors: H Wu; X Wu; Z Liang
Journal: Gene Ther Date: 2017-08-03 Impact factor: 5.250

Review 2. Mutations in context: implications of BRCA testing in diverse populations.

Authors: Gabriela E S Felix; Yonglan Zheng; Olufunmilayo I Olopade
Journal: Fam Cancer Date: 2018-10 Impact factor: 2.375

3. Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations.

Authors: Bella Kaufman; Yael Laitman; Jacek Gronwald; Robert Winqvist; Arvids Irmejs; Jan Lubinski; Katri Pylkäs; Janis Gardovskis; Edvins Miklasevics; Eitan Friedman
Journal: Fam Cancer Date: 2009-07-17 Impact factor: 2.375

4. Mutation analysis of the AATF gene in breast cancer families.

Authors: Maria Haanpää; Mervi Reiman; Jenni Nikkilä; Hannele Erkko; Katri Pylkäs; Robert Winqvist
Journal: BMC Cancer Date: 2009-12-21 Impact factor: 4.430

5. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function.

Authors: J Nikkilä; K A Coleman; D Morrissey; K Pylkäs; H Erkko; T E Messick; S-M Karppinen; A Amelina; R Winqvist; R A Greenberg
Journal: Oncogene Date: 2009-03-23 Impact factor: 9.867

10. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.

Authors: Sandra Filippini; Ana Blanco; Ana Fernández-Marmiesse; Vanesa Alvarez-Iglesias; Clara Ruíz-Ponte; Angel Carracedo; Ana Vega
Journal: BMC Med Genet Date: 2007-06-29 Impact factor: 2.103

Evidence of founder mutations in Finnish BRCA1 and BRCA2 families.

Review 1. Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.

Review 2. Mutations in context: implications of BRCA testing in diverse populations.

3. Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations.

4. Mutation analysis of the AATF gene in breast cancer families.

5. Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function.

6. BRCA2 mutations in 154 finnish male breast cancer patients.

Review 7. Pathology of hereditary breast cancer.

Review 8. Founder populations and their uses for breast cancer genetics.

9. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

10. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families.