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- Osorio, A., et al.
(författare)
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Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
- 2011
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Ingår i: British Journal of Cancer. - : Springer Science and Business Media LLC. - 1532-1827 .- 0007-0920. ; 104:8, s. 1356-1361
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Single-nucleotide polymorphisms (SNPs) in genes involved in DNA repair are good candidates to be tested as phenotypic modifiers for carriers of mutations in the high-risk susceptibility genes BRCA1 and BRCA2. The base excision repair (BER) pathway could be particularly interesting given the relation of synthetic lethality that exists between one of the components of the pathway, PARP1, and both BRCA1 and BRCA2. In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2. METHODS: Three common SNPs in the gene, c.-77C>T (rs3213245) p.Arg280His (rs25489) and p.Gln399Arg (rs25487) were analysed in a series of 701 BRCA1 and 576 BRCA2 mutation carriers. RESULTS: An association was observed between p.Arg280His-rs25489 and breast cancer risk for BRCA2 mutation carriers, with rare homozygotes at increased risk relative to common homozygotes (hazard ratio: 22.3, 95% confidence interval: 14.3-34, P<0.001). This association was further tested in a second series of 4480 BRCA1 and 3016 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2. CONCLUSIONS AND INTERPRETATION: No evidence of association was found when the larger series was analysed which lead us to conclude that none of the three SNPs are significant modifiers of breast cancer risk for mutation carriers. British Journal of Cancer (2011) 104, 1356-1361. doi:10.1038/bjc.2011.91 www.bjcancer.com Published online 22 March 2011 (C) 2011 Cancer Research UK
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- Aittomaki, K, et al.
(författare)
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Genetics and assisted reproduction technology
- 2005
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Ingår i: Acta Obstet Gynecol Scand. - : Wiley. ; 84:5, s. 463-473
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Tidskriftsartikel (refereegranskat)abstract
- In the past 20 years, a significant improvement has been shown in the treatment for infertility in both women and men through the development of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Only donated sperm could be previously used for treatment; now oocytes can also be donated. Furthermore, the combination of IVF and ICSI with advanced genetic methods has made preimplantation genetic diagnosis possible for many genetic conditions. These methods enable genetic testing of the early human embryo by using only a single cell, one blastomere biopsied from the embryo, as the sample from which the diagnosis of many chromosome rearrangements and other inherited diseases can be made. It has also been established that a considerable proportion of infertility is caused by genetic defects, which have several implications for infertility treatment. The purpose of this review is to give a concise introduction on how genetics is involved in assisted reproduction technology to specialists who may not be working in this particular field of gynecology, but who would need some knowledge of this for proper care of their patients.
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- Aittomaki, K, et al.
(författare)
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Safety issues in assisted reproduction technology: should ICSI patients have genetic testing before treatment? A practical proposition to help patient information
- 2004
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Ingår i: Hum Reprod. - : Oxford University Press (OUP). ; 19:3, s. 472-476
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Tidskriftsartikel (refereegranskat)abstract
- ICSI is a highly efficient treatment of male factor infertility and therefore increasingly used to treat infertile men successfully. However, when used to treat patients with a genetic cause for their infertility, there may be an increased risk for the offspring. Chromosome aberrations, Y chromosome microdeletions and CFTR (cystic fibrosis transmembrane conductance regulator) mutations alone may explain up to 25% of azoospermia and severe oligozoospermia. These genetic defects could be identified before treatment, in which case informed decisions could be made by the couple to be treated concerning the treatment, prenatal testing or preimplantation genetic diagnosis. Therefore, we propose that men with very low sperm counts (<5 x 10(6)/ml) considering ICSI should always be informed of the possibility of genetic testing. The information should include a precise statement of the implications of the results for the patient, his family and his offspring, and reassurance that a decision to test or not to test, or the subsequent test results will not be used as a reason for withholding treatment. Testing should always remain voluntary, and the couples themselves should decide whether or not they choose to be tested. If an abnormality is identified, patients should be referred to specialist genetic counselling.
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- Bergh, Christina, 1953, et al.
(författare)
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Attitudes towards and management of single embryo transfer among Nordic IVF doctors
- 2007
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Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 86:10, s. 1222-1230
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Tidskriftsartikel (refereegranskat)abstract
- Background. The objective of this study was to investigate the attitudes towards and management of single embryo transfer (SET) among Nordic in vitro fertilisation (IVF) doctors, and to present the rate of SET and multiple pregnancies in the different countries. Methods. A questionnaire was sent to all IVF doctors in the Nordic countries (n=198, 78.5% responded). Pregnancy rates, SET and multiple births rates were extracted from registries. Main outcome measure was attitudes and management of SET. Results. Almost all doctors thought that a twin pregnancy compared unfavourably to a singleton. A twin rate >10% was acceptable for 5% of Swedish doctors. Corresponding figures for Finnish, Danish and Norwegian doctors were 21, 35 and 35%, respectively. For a woman <36 years, performing her first cycle and with two good quality embryos, almost all doctors would recommend SET. For a woman =36 years in a similar situation, SET would be recommended only in Sweden and Finland. The pregnancy rate per embryo transfer (ET), the SET rate 2003, the multiple birth rate, and the estimated SET rate 2004 were 33.3, 21.5, 22.7 and 25% (Denmark), 31.3, 43.4, 14 and 51% (Finland), 40.5, 10.5, 26.5 and 16% (Iceland), 30.6, 18, 25.2 and 26% (Norway), and 35.3, 55.1, 11.8 and 71% (Sweden). Conclusions. The SET and multiple birth rates reflect the attitudes of Nordic IVF doctors to SET and multiple births well. When introducing SET, the attitude of the IVF doctor seems to be important. © 2007 Taylor & Francis.
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