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1. Elevated expression of complement factor I in lung cancer cells associates with shorter survival–Potentially via non-canonical mechanism

Author

Felberg, Anna, Bieńkowski, Michał, Stokowy, Tomasz, Myszczyński, Kamil, Polakiewicz, Zuzanna, Kitowska, Kamila, Sądej, Rafał, Mohlin, Frida, Kuźniewska, Alicja, Kowalska, Daria, Stasiłojć, Grzegorz, Jongerius, Ilse, Spaapen, Robbert, Mesa-Guzman, Miguel, Montuenga, Luis M., Blom, Anna M., Pio, Ruben, and Okrój, Marcin

Published
2024
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2. 125 Elevated expression of complement factor I in lung cancer cells associates with shorter survival – Potentially via non-canonical mechanism

Author

Felberg, Anna, primary, Bieńkowski, Michał, additional, Stokowy, Tomasz, additional, Myszczyński, Kamil, additional, Mohlin, Frida, additional, Jongerius, Ilse, additional, Spaapen, Robbert, additional, Mesa-Guzman, Miguel, additional, Montuenga, Luis, additional, Blom, Anna, additional, Pio, Ruben, additional, and Okrój, Marcin, additional

Published
2023
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4. Substitutions at position 263 within the von Willebrand factor type A domain determine the functionality of complement C2 protein

Author

Kuźniewska, Alicja, Thiel, Marcel, Kowalska, Daria, Felberg, Anna, Szynkowski, Patryk, Oldziej, Stanislaw, Arjona, Emilia, Jongerius, Ilse, Rodríguez de Córdoba, Santiago, Okrój, Marcin, Urban, Aleksandra, Landsteiner Laboratory, National Science Centre (Poland), University of Gdańsk, Ministerio de Economía y Competitividad (España), Comunidad de Madrid, Kuźniewska, Alicja, Thiel, Marcel, Kowalska, Daria, Felberg, Anna, Oldziej, Stanislaw, Arjona, Emilia, Jongerius, Ilse, Rodríguez de Córdoba, Santiago, Okrój, Marcin, and Urban, Aleksandra

Subjects
Base Sequence, molecular modeling, von Willebrand Factor, Mutation, Immunology, Immunology and Allergy, C3 glomerulopathies, Complement C2, MIDAS, convertase, complement system, Complement Factor B
Abstract

8 p.-4 fig., The complement system is one of the first defense lines protecting from invading pathogens. However, it may turn offensive to the body’s own cells and tissues when deregulated by the presence of rare genetic variants that impair physiological regulation and/or provoke abnormal activity of key enzymatic components. Factor B and complement C2 are examples of paralogs engaged in the alternative and classical/lectin complement pathway, respectively. Pathogenic mutations in the von Willebrand factor A domain (vWA) of FB have been known for years. Despite substantial homology between two proteins and the demonstration that certain substitutions in FB translated to C2 result in analogous phenotype, there was a limited number of reports on pathogenic C2 variants in patients. Recently, we studied a cohort of patients suffering from rare kidney diseases and confirmed the existence of two gain-of-function and three loss-of-function mutations within the C2 gene sequences coding for the vWA domain (amino acids 254-452) or nearly located unstructured region (243-253) of C2 protein. Herein, we report the functional consequences of amino acid substitution of glutamine at position 263. The p.Q263G variant resulted in the gain-of-function phenotype, similarly to a homologous mutation p.D279G in FB. Conversely, the p.Q263P variant found in a patient with C3 glomerulopathy resulted in the loss of C2 function. Our results confirm that the N-terminal part of the vWA domain is a hot spot crucial for the complement C2 function, This study was supported by National Science Centre Poland grants no. 2015/18/M/NZ6/00334 (to MO), 2018/29/N/NZ6/01413, and 2019/32/T/NZ6/00328 (both to AU), and UGrants Start 2022 no. 1220/97/2022 from the University of Gdańsk (to AK). SRdC was supported by grants from the Spanish Ministerio de Economía y Competitividad-FEDER (PID2019-104912RB-I00) and Autonomous Region of Madrid (S2017/BMD-3673, S2022/BMD-7278).

Published
2022

5. Supplementary Methods, Tables 1 - 6 from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author

Ahsan, Habibul, primary, Halpern, Jerry, primary, Kibriya, Muhammad G., primary, Pierce, Brandon L., primary, Tong, Lin, primary, Gamazon, Eric, primary, McGuire, Valerie, primary, Felberg, Anna, primary, Shi, Jianxin, primary, Jasmine, Farzana, primary, Roy, Shantanu, primary, Brutus, Rachelle, primary, Argos, Maria, primary, Melkonian, Stephanie, primary, Chang-Claude, Jenny, primary, Andrulis, Irene, primary, Hopper, John L., primary, John, Esther M., primary, Malone, Kathi, primary, Ursin, Giske, primary, Gammon, Marilie D., primary, Thomas, Duncan C., primary, Seminara, Daniela, primary, Casey, Graham, primary, Knight, Julia A., primary, Southey, Melissa C., primary, Giles, Graham G., primary, Santella, Regina M., primary, Lee, Eunjung, primary, Conti, David, primary, Duggan, David, primary, Gallinger, Steve, primary, Haile, Robert, primary, Jenkins, Mark, primary, Lindor, Noralane M., primary, Newcomb, Polly, primary, Michailidou, Kyriaki, primary, Apicella, Carmel, primary, Park, Daniel J., primary, Peto, Julian, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Lathrop, Mark, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Meindl, Alfons, primary, Schmutzler, Rita K., primary, Müller-Myhsok, Bertram, primary, Lochmann, Magdalena, primary, Beckmann, Lars, primary, Hein, Rebecca, primary, Makalic, Enes, primary, Schmidt, Daniel F., primary, Bui, Quang Minh, primary, Stone, Jennifer, primary, Flesch-Janys, Dieter, primary, Dahmen, Norbert, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Hall, Per, primary, Czene, Kamila, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Rahman, Nazneen, primary, Turnbull, Clare, primary, Dunning, Alison M., primary, Pharoah, Paul, primary, Waisfisz, Quinten, primary, Meijers-Heijboer, Hanne, primary, Uitterlinden, Andre G., primary, Rivadeneira, Fernando, primary, Nicolae, Dan, primary, Easton, Douglas F., primary, Cox, Nancy J., primary, and Whittemore, Alice S., primary

Published
2023
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6. Data from A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author

Ahsan, Habibul, primary, Halpern, Jerry, primary, Kibriya, Muhammad G., primary, Pierce, Brandon L., primary, Tong, Lin, primary, Gamazon, Eric, primary, McGuire, Valerie, primary, Felberg, Anna, primary, Shi, Jianxin, primary, Jasmine, Farzana, primary, Roy, Shantanu, primary, Brutus, Rachelle, primary, Argos, Maria, primary, Melkonian, Stephanie, primary, Chang-Claude, Jenny, primary, Andrulis, Irene, primary, Hopper, John L., primary, John, Esther M., primary, Malone, Kathi, primary, Ursin, Giske, primary, Gammon, Marilie D., primary, Thomas, Duncan C., primary, Seminara, Daniela, primary, Casey, Graham, primary, Knight, Julia A., primary, Southey, Melissa C., primary, Giles, Graham G., primary, Santella, Regina M., primary, Lee, Eunjung, primary, Conti, David, primary, Duggan, David, primary, Gallinger, Steve, primary, Haile, Robert, primary, Jenkins, Mark, primary, Lindor, Noralane M., primary, Newcomb, Polly, primary, Michailidou, Kyriaki, primary, Apicella, Carmel, primary, Park, Daniel J., primary, Peto, Julian, primary, Fletcher, Olivia, primary, dos Santos Silva, Isabel, primary, Lathrop, Mark, primary, Hunter, David J., primary, Chanock, Stephen J., primary, Meindl, Alfons, primary, Schmutzler, Rita K., primary, Müller-Myhsok, Bertram, primary, Lochmann, Magdalena, primary, Beckmann, Lars, primary, Hein, Rebecca, primary, Makalic, Enes, primary, Schmidt, Daniel F., primary, Bui, Quang Minh, primary, Stone, Jennifer, primary, Flesch-Janys, Dieter, primary, Dahmen, Norbert, primary, Nevanlinna, Heli, primary, Aittomäki, Kristiina, primary, Blomqvist, Carl, primary, Hall, Per, primary, Czene, Kamila, primary, Irwanto, Astrid, primary, Liu, Jianjun, primary, Rahman, Nazneen, primary, Turnbull, Clare, primary, Dunning, Alison M., primary, Pharoah, Paul, primary, Waisfisz, Quinten, primary, Meijers-Heijboer, Hanne, primary, Uitterlinden, Andre G., primary, Rivadeneira, Fernando, primary, Nicolae, Dan, primary, Easton, Douglas F., primary, Cox, Nancy J., primary, and Whittemore, Alice S., primary

Published
2023
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15. Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups

Author

John, Esther M., Miron, Alexander, Gong, Gail, Phipps, Amanda I., Felberg, Anna, Li, Frederick P., West, Dee W., and Whittemore, Alice S.

Subjects
African Americans -- Health aspects, African Americans -- Genetic aspects, Asian Americans -- Health aspects, Asian Americans -- Genetic aspects, Hispanic Americans -- Health aspects, Hispanic Americans -- Genetic aspects, Tumor suppressor genes -- Research
Abstract

A study to compare the extent Hispanics, African Americans and Asian Americans as carriers of the tumor suppressor gene BRCA1 compared to white non-Hispanics with and without Ashkenazi Jewish ancestry is conducted. Results reveal that the mutated gene was highest in Hispanics and Asian Americans displayed the lowest.

Published
2007

16. Gain-of-function mutation in complement C2 protein identified in a patient with aHUS

Author

Urban, Aleksandra, primary, Volokhina, Elena, additional, Felberg, Anna, additional, Stasiłojć, Grzegorz, additional, Blom, Anna M., additional, Jongerius, Ilse, additional, van den Heuvel, Lambertus, additional, Thiel, Marcel, additional, Ołdziej, Stanisław, additional, Arjona, Emilia, additional, de Córdoba, Santiago Rodriguez, additional, and Okrój, Marcin, additional

Published
2020
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17. Tubal ligation and risk of ovarian cancer subtypes: a pooled analysis of case-control studies

Author

Sieh, Weiva, Salvador, Shannon, McGuire, Valerie, Weber, Rachel Palmieri, Terry, Kathryn L, Rossing, Mary Anne, Risch, Harvey, Wu, Anna H, Webb, Penelope M, Moysich, Kirsten, Doherty, Jennifer A, Felberg, Anna, Miller, Dianne, Jordan, Susan J, Goodman, Marc T, Lurie, Galina, Chang-Claude, Jenny, Rudolph, Anja, Kjær, Susanne Krüger, Jensen, Allan, Høgdall, Estrid, Bandera, Elisa V, Olson, Sara H, King, Melony G, Rodriguez-Rodriguez, Lorna, Kiemeney, Lambertus A, Marees, Tamara, Massuger, Leon F, van Altena, Anne M, Ness, Roberta B, Cramer, Daniel W, Pike, Malcolm C, Pearce, Celeste Leigh, Berchuck, Andrew, Schildkraut, Joellen M, and Whittemore, Alice S

Published
2013
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18. Stage at diagnosis survival in a multiethnic cohort of prostate cancer patients

Author

Oakley-Girvan, Ingrid, Kolonel, Laurence N., Gallagher, Richard P., Wu, Anna H., Felberg, Anna, and Whittemore, Alice S.

Subjects
Cancer patients -- Health aspects, Social status -- Health aspects, Prostate cancer, Government, Health care industry
Abstract

Objectives. We evaluated the effects of socioeconomic status and comorbidity on stage of disease and survival among 1,509 population-based prostate cancer patients. Methods. We applied logistic regression and Cox proportional hazards regression to data from Whites, African Americans, and Asian Americans who were diagnosed from 1987 to 1991. Results. Patients with existing comorbid conditions were less likely than those without these conditions to be diagnosed with advanced cancer. Compared with Whites, African Americans (odds ratio [OR] = 1.5; 95% confidence interval [CI]= 1.1, 2.2) and foreign-born Asian Americans (OR=1.6; 95% CI=1.0, 2.4) were more likely to be diagnosed with advanced cancer. Among men with localized disease, prostate cancer death rates were higher for African Americans than for Whites (death rate ratio=2.3; 95% CI=1.2, 4.7). Conclusions. These findings support the need for further investigation of factors that affect access to and use of health care among African Americans and Asian Americans.

Published
2003

26. SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis.

Author

Guiraldelli, Michel F., Felberg, Anna, Almeida, Luciana P., Parikh, Aniruddha, de Castro, Rodrigo O., and Pezza, Roberto J.

Subjects
*MEIOSIS, *CHROMOSOME segregation, *GAMETES, *HOMOLOGOUS chromosomes, *ARABIDOPSIS
Abstract

Chromosome segregation errors during meiosis result in the formation of aneuploid gametes and are the leading cause of pregnancy loss and birth defects in humans. Proper chromosome segregation requires pairwise associations of maternal and paternal homologous chromosomes. Chiasmata, which are the cytological manifestations of crossovers (COs), provide a physical link that holds the homologs together as a pair, facilitating their orientation on the spindle at meiosis I. Although CO-promoting activities ensure a balanced number and position of COs, their identity and mechanism of action in mammals remain understudied. Previous work in yeast and Arabidopsis has shown that Zip2 and Shoc1 are ortholog proteins with an important role in promoting the formation of COs. Our work is the first study in mammals showing the in vivo and in vitro function of mouse and human SHOC1. We show that purified recombinant human SHOC1, an XPF/MUS81 family member, preferentially binds branched DNA molecules but apparently lacks in vitro endonuclease activity, despite its conserved ERCC4-(HhH)2 core structure. Cytological observations suggest that initial steps of recombination are normal in a majority of spermatocytes from SHOC1 hypomorphic mice. However, late stages of recombination appear abnormal, as chromosomal localization of MLH1 is reduced. In agreement, chiasma formation is reduced, and cells arrest at metaphase I with a few lagging chromosomes and subsequent apoptosis. This analysis of SHOC1-deficient mice and the selective localization of SHOC1 to a subset of recombination sites show that SHOC1 acts at key mid-stage steps of the CO formation process. The formation of chromosome axial elements and homologous pairing are apparently normal, but synapsis is altered with SYCP1 frequently failing to extend the full length of the chromosome axes. Finally, we describe that SHOC1 interacts with TEX11, another protein important for the formation of COs, connecting SHOC1 to chromosome axis and structure. [ABSTRACT FROM AUTHOR]

Published
2018
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28. Breast Cancer Risk for Noncarriers of Family-Specific BRCA1 and BRCA2 Mutations: Findings From the Breast Cancer Family Registry

Author

Kurian, Allison W., primary, Gong, Gail D., additional, John, Esther M., additional, Johnston, David A., additional, Felberg, Anna, additional, West, Dee W., additional, Miron, Alexander, additional, Andrulis, Irene L., additional, Hopper, John L., additional, Knight, Julia A., additional, Ozcelik, Hilmi, additional, Dite, Gillian S., additional, Apicella, Carmel, additional, Southey, Melissa C., additional, and Whittemore, Alice S., additional

Published
2011
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32. A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age.

Author

Ahsan, Habibul, Halpern, Jerry, Kibriya, Muhammad G., Pierce, Brandon L., Lin Tong, Gamazon, Eric, McGuire, Valerie, Felberg, Anna, Jianxin Shi, Jasmine, Farzana, Roy, Shantanu, Brutus, Rachelle, Argos, Maria, Melkonian, Stephanie, Chang-Claude, Jenny, Andrulis, Irene, Hopper, John L., John, Esther M., Malone, Kathi, and Ursin, Giske

Abstract

The article discusses the genome-wide association study on early-onset breast cancer (EOBC), that found breast cancer to be associated with the phosphofructokinase-muscle (PFKM) gene on chromosome 12q13.11. Topics discussed include association of 32 of the 82 known later-onset breast cancer (LOBC) single-nucleotide polymorphisms (SNP) with EOBC, apparently similar genetic etiologies for EOBC and LOBC, and possibility of 5q11.2 region containing multiple distinct breast cancer loci.

Published
2014
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33. Diagnostic Chest X-Rays and Breast Cancer Risk before Age 50 Years for BRCA1 and BRCA2 Mutation Carriers.

Author

John, Esther M., McGuire, Valerie, Thomas, Duncan, Haile, Robert, Ozcelik, Hilmi, Milne, Roger L., Felberg, Anna, West, Dee W., Miron, Alexander, Knight, Julia A., Terry, Mary Beth, Daly, Mary, Buys, Saundra S., Andrulis, Irene L., Hopper, John L., Southey, Melissa C., Giles, Graham G., Apicella, Carmel, and Thorne, Heather

Abstract

The article discusses a study that evaluated the impact of ionizing diagnostic x-ray radiation on the risks for breast cancers of women with germline breast cancer 2 (BRCA2) and (BRCA1) gene mutations. Topics covered include comparison of mutation carriers with cases of breast cancer in the U.S., Australia/New Zealand and Canada. Results showed there is no evidence of breast cancer risks associated with exposure to diagnostic x-rays of patients with BRCA1 and BRCA2 gene mutations.

Published
2013
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34. Prediction of BRCA1Germline Mutation Status in Women With Ovarian Cancer Using Morphology-based Criteria

Author

Fujiwara, Mika, McGuire, Valerie A., Felberg, Anna, Sieh, Weiva, Whittemore, Alice S., and Longacre, Teri A.

Abstract

Specific morphologic features that may predict BRCA1germline mutation in ovarian cancer have neither been well described nor independently tested. We identified 5 morphologic features associated with BRCA1mutation status in a series of 20 ovarian cancers from BRCA1mutation carriers: (1) modified Nottingham grade 3; (2) serousundifferentiated histology; (3) prominent intraepithelial lymphocytes; (4) marked nuclear atypia with giantbizarre forms; and (5) abundant mitotic figures. These morphologic features were then tested on 325 ovarian tumors drawn from a population-based Greater Bay Area Cancer Registry and classified into 3 categories independent of the BRCA1status: “Compatible with BRCA1,” “Possibly compatible with BRCA1,” and “Not compatible with BRCA1.” All “Compatible with BRCA1” tumors were additionally investigated for presence of dominant adnexal mass, fallopian tube mucosal involvement, and uterine cornu involvement. The positive and negative predictive values for “Compatible with BRCA1” were 1142 (26.2) and 267283 (94.3), respectively, whereas combining the “Compatible with BRCA1” and “Possibly compatible with BRCA1” had positive and negative predictive values of 1885 (21.2) and 231240 (96.3), respectively. Although dominant adnexal mass and uterine cornu involvement did not add further predictive value, the likelihood of BRCA1positivity increased to 42.9 when a tumor with “Compatible with BRCA1” histology was also associated with fallopian tube mucosal involvement. The combination of modified Nottingham grade 3 serous or undifferentiated histology, prominent intraepithelial lymphocytes, marked nuclear atypia with giantbizarre nuclei, and high mitotic index should help to identify women for BRCA1mutational analysis in the appropriate clinical setting. Ovarian tumors lacking this specific phenotype are unlikely to be associated with BRCA1and should not undergo mutational analysis in the absence of other indications.

Published
2012
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35. A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Author

Schmutzler, Rita K., Cox, Nancy J., Argos, Maria, Stone, Jennifer, Roy, Shantanu, Müller-Myhsok, Bertram, Meindl, Alfons, Nevanlinna, Heli, Andrulis, Irene, Jasmine, Farzana, Gallinger, Steve, Santella, Regina M., Aittomäki, Kristiina, Chang-Claude, Jenny, Lathrop, Mark, Shi, Jianxin, Irwanto, Astrid, Hopper, John L., Waisfisz, Quinten, Hall, Per, Beckmann, Lars, Thomas, Duncan C., Knight, Julia A., Ursin, Giske, Chanock, Stephen J., Easton, Douglas F., Flesch-Janys, Dieter, Whittemore, Alice S., Bui, Quang Minh, Dahmen, Norbert, Melkonian, Stephanie, Meijers-Heijboer, Hanne, Blomqvist, Carl, Pierce, Brandon L., Gammon, Marilie D., Dunning, Alison M., Felberg, Anna, Turnbull, Clare, Schmidt, Daniel F., Rivadeneira, Fernando, Michailidou, Kyriaki, Halpern, Jerry, John, Esther M., Malone, Kathi, Lochmann, Magdalena, Nicolae, Dan, Gamazon, Eric, Ahsan, Habibul, Liu, Jianjun, Apicella, Carmel, Lee, Eunjung, Silva, Isabel Dos Santos, Uitterlinden, Andre G., Tong, Lin, Park, Daniel J., Southey, Melissa C., Hein, Rebecca, Lindor, Noralane M., Casey, Graham, Kibriya, Muhammad G., Haile, Robert, Czene, Kamila, Newcomb, Polly, Conti, David, Seminara, Daniela, Rahman, Nazneen, Pharoah, Paul, Fletcher, Olivia, Jenkins, Mark, Duggan, David, Hunter, David J., Giles, Graham G., Makalic, Enes, Brutus, Rachelle, Peto, Julian, and McGuire, Valerie

Subjects
3. Good health
Abstract

Early-onset breast cancer (EOBC) causes substantial loss of life and productivity, creating a major burden among women worldwide. We analyzed 1,265,548 Hapmap3 SNPs among a discovery set of 3,523 EOBC incident case and 2,702 population control women aged

36. Gain-of-function mutation in complement C2 protein identified in a patient with aHUS

Author

Anna M. Blom, Stanisław Ołdziej, Ilse Jongerius, Grzegorz Stasiłojć, Emilia Arjona, Aleksandra Urban, Anna Felberg, Elena B. Volokhina, Marcin Okroj, Marcel Thiel, Santiago Rodríguez de Córdoba, Lambertus P. van den Heuvel, National Science Centre (Poland), Ministerio de Economía y Competitividad (España), Comunidad de Madrid, Urban, Aleksandra, Volokhina, Elena, Felberg, Anna, Stasiłojć, Grzegorz, Blom, Anna M., Jongerius, Ilse, van den Heuvel, Lambertus, Thiel, Marcel, Oldziej, Stanislaw, Arjona, Emilia, Rodríguez de Córdoba, Santiago, Okrój, Marcin, Urban, Aleksandra [0000-0002-7299-4935], Volokhina, Elena [0000-0002-4294-8460], Felberg, Anna [0000-0001-6271-6483], Stasiłojć, Grzegorz [0000-0002-4158-1935], Blom, Anna M. [0000-0002-1348-1734], Jongerius, Ilse [0000-0002-7759-9897], van den Heuvel, Lambertus [0000-0003-3917-6727], Thiel, Marcel [0000-0002-6403-9436], Oldziej, Stanislaw [0000-0002-4583-3941], Arjona, Emilia [0000-0002-0753-3657], Rodríguez de Córdoba, Santiago [0000-0001-6401-1874], Okrój, Marcin [0000-0003-2935-2301], Paediatric Infectious Diseases / Rheumatology / Immunology, Landsteiner Laboratory, AII - Inflammatory diseases, and AII - Infectious diseases

Subjects
Allergy, Immunology, Mutation, Missense, Humans, Immunology and Allergy, Missense mutation, Medicine, Gain of function mutation, Genetic Predisposition to Disease, C3, Complement Activation, Genetic Association Studies, Guanine Nucleotide-Releasing Factor 2, Atypical Hemolytic Uremic Syndrome, Autoantibodies, Genetics, Science & Technology, Complement component 2, business.industry, Complement C2, Phenotype, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Gain of Function Mutation, Mutation (genetic algorithm), business, Life Sciences & Biomedicine
Abstract

15 p.-1 fig.-1 tab.-7 fig. supl., Supported by National Science Centre Poland (grant 2015/18/M/NZ6/00334), Ministerio de Economía y Competitividad/FEDER (grant SAF2015-66287-R), and Autonomous Region of Madrid (grant S2017/BMD-3673).

Published
2020

37. BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50.

Author

Haile RW, Thomas DC, McGuire V, Felberg A, John EM, Milne RL, Hopper JL, Jenkins MA, Levine AJ, Daly MM, Buys SS, Senie RT, Andrulis IL, Knight JA, Godwin AK, Southey M, McCredie MR, Giles GG, Andrews L, Tucker K, Miron A, Apicella C, Tesoriero A, Bane A, Pike MC, and Whittemore AS

Subjects
Adult, Australia epidemiology, Breast Neoplasms epidemiology, Canada epidemiology, Carcinoma in Situ epidemiology, Carcinoma, Ductal, Breast epidemiology, Case-Control Studies, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Logistic Models, Middle Aged, Receptors, Estrogen drug effects, Receptors, Progesterone drug effects, Risk Factors, Surveys and Questionnaires, Time Factors, United States epidemiology, Breast Neoplasms genetics, Carcinoma in Situ genetics, Carcinoma, Ductal, Breast genetics, Contraceptives, Oral pharmacology, Genes, BRCA1 drug effects, Genes, BRCA2 drug effects, Mutation drug effects
Abstract

Background: Understanding the effect of oral contraceptives on risk of breast cancer in BRCA1 or BRCA2 mutation carriers is important because oral contraceptive use is a common, modifiable practice., Methods: We studied 497 BRCA1 and 307 BRCA2 mutation carriers, of whom 195 and 128, respectively, had been diagnosed with breast cancer. Case-control analyses were conducted using unconditional logistic regression with adjustments for family history and familial relationships and were restricted to subjects with a reference age under 50 years., Results: For BRCA1 mutation carriers, there was no significant association between risk of breast cancer and use of oral contraceptives for at least 1 year [odds ratio (OR), 0.77; 95% confidence interval (95% CI), 0.53-1.12] or duration of oral contraceptive use (P(trend) = 0.62). For BRCA2 mutation carriers, there was no association with use of oral contraceptives for at least 1 year (OR, 1.62; 95% CI, 0.90-2.92); however, there was an association of elevated risk with oral contraceptive use for at least 5 years (OR, 2.06; 95% CI, 1.08-3.94) and with duration of use (OR(trend) per year of use, 1.08; P = 0.008). Similar results were obtained when we considered only use of oral contraceptives that first started in 1975 or later., Conclusions: We found no evidence overall that use of oral contraceptives for at least 1 year is associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers before age 50. For BRCA2 mutation carriers, use of oral contraceptives may be associated with an increased risk of breast cancer among women who use them for at least 5 years. Further studies reporting results separately for BRCA1 and BRCA2 mutation carriers are needed to resolve this important issue.

Published
2006
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38. No increased risk of breast cancer associated with alcohol consumption among carriers of BRCA1 and BRCA2 mutations ages <50 years.

Author

McGuire V, John EM, Felberg A, Haile RW, Boyd NF, Thomas DC, Jenkins MA, Milne RL, Daly MB, Ward J, Terry MB, Andrulis IL, Knight JA, Godwin AK, Giles GG, Southey M, West DW, Hopper JL, and Whittemore AS

Subjects
Breast Neoplasms chemically induced, Breast Neoplasms epidemiology, Female, Humans, Risk Factors, Alcohol Drinking adverse effects, Breast Neoplasms genetics, Genes, BRCA1, Genes, BRCA2, Germ-Line Mutation
Published
2006
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