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Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
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2010 (English)In: Cancer Epidemiology, Biomarkers and Prevention, ISSN 1055-9965, E-ISSN 1538-7755, Vol. 19, no 11, p. 2859-2868Article in journal (Refereed) Published
Abstract [en]

Background: The genes caspase-8 (CASP8) and caspase-10 (CASP10) functionally cooperate and play a key role in the initiation of apoptosis. Suppression of apoptosis is one of the major mechanisms underlying the origin and progression of cancer. Previous case-control studies have indicated that the polymorphisms CASP8 D302H and CASP10 V410I are associated with a reduced risk of breast cancer in the general population.

Methods: To evaluate whether the CASP8 D302H (CASP10 V410I) polymorphisms modify breast or ovarian cancer risk in BRCA1 and BRCA2 mutation carriers, we analyzed 7,353 (7,227) subjects of white European origin provided by 19 (18) study groups that participate in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A weighted cohort approach was used to estimate hazard ratios (HR) and 95% confidence intervals (95% CI).

Results: The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; Ptrend = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; Ptrend = 0.004) for BRCA1 but not for BRCA2 mutation carriers. The CASP10 V410I polymorphism was not associated with breast or ovarian cancer risk for BRCA1 or BRCA2 mutation carriers.

Conclusions: CASP8 D302H decreases breast and ovarian cancer risk for BRCA1 mutation carriers but not for BRCA2 mutation carriers.

Impact: The combined application of these and other recently identified genetic riskmodifiers could in the future allow better individual risk calculation and could aid in the individualized counseling and decision making with respect to preventive options in BRCA1 mutation carriers.

Place, publisher, year, edition, pages
American Association for Cancer Research , 2010. Vol. 19, no 11, p. 2859-2868
Keywords [en]
BRCA1 protein, BRCA2 protein, caspase 10, caspase 8, adult, allele, article, breast cancer, cancer risk, DNA polymorphism, female, genetic variability, human, major clinical study, ovary cancer, priority journal, Breast Neoplasms, Genes, BRCA1, Genes, BRCA2, Genetic Predisposition to Disease, Genotype, Humans, Mutation, Ovarian Neoplasms, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Risk Factors
National Category
Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39676DOI: 10.1158/1055-9965.EPI-10-0517ISI: 000283991600020PubMedID: 20978178Scopus ID: 2-s2.0-78549237225OAI: oai:DiVA.org:hj-39676DiVA, id: diva2:1212053
Note

The Swedish BRCA1 and BRCA2 study (SWE-BRCA) SWE-BRCA collaborators: Per Karlsson, Margareta Nordling, Annika Bergman, and Zakaria Einbeigi, Gothenburg, Sahlgrenska University Hospital; Marie Stenmark-Askmalm and Sigrun Liedgren, Linkoping University Hospital; Ake Borg, Niklas Loman, Hakan Olsson, Ulf Kristoffersson, Helena Jernstrom, Katja Harbst, and Karin Henriksson, Lund University Hospital; Annika Lindblom, Brita Arver, Anna von Wachenfeldt, Annelie Liljegren, Gisela Barbany-Bustinza, and Johanna Rantala, Stockholm, Karolinska University Hospital; Beatrice Malmer, Henrik Gronberg, Eva-Lena Stattin, and Monica Emanuelsson, Umea University Hospital; Hans Ehrencrona, Richard Rosenquist Brandell, and Niklas Dahl, Uppsala University Hospital. We thank the Swedish Cancer Society.

Available from: 2018-06-01 Created: 2018-06-01 Last updated: 2018-06-01Bibliographically approved

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