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  1. Article: A Genome Model to Explain Major Features of Neurodevelopmental Disorders in Newborns.

    Friedenson, Bernard

    Biomedical informatics insights

    2019  Volume 11, Page(s) 1178222619863369

    Abstract: The purpose of this study was to test the hypothesis that infections are linked to chromosomal anomalies that cause neurodevelopmental disorders. In children with disorders in the development of their nervous systems, chromosome anomalies known to cause ... ...

    Abstract The purpose of this study was to test the hypothesis that infections are linked to chromosomal anomalies that cause neurodevelopmental disorders. In children with disorders in the development of their nervous systems, chromosome anomalies known to cause these disorders were compared with foreign DNAs, including known teratogens. Genes essential for neurons, lymphatic drainage, immunity, circulation, angiogenesis, cell barriers, structure, epigenetic and chromatin modifications were all found close together in polyfunctional clusters that were deleted or rearranged in neurodevelopmental disorders. In some patients, epigenetic driver mutations also changed access to large chromosome segments. These changes account for immune, circulatory, and structural deficits that accompany neurologic deficits. Specific and repetitive human DNA encompassing large deletions matched infections and passed rigorous artifact tests. Deletions of up to millions of bases accompanied infection-matching sequences and caused massive changes in human homologies to foreign DNAs. In data from 3 independent studies of private, familial, and recurrent chromosomal rearrangements, massive changes in homologous microbiomes were found and may drive rearrangements and encourage pathogens. At least 1 chromosomal anomaly was found to consist of human DNA fragments with a gap that corresponded to a piece of integrated foreign DNA. Microbial DNAs that match repetitive or specific human DNA segments are thus proposed to interfere with the epigenome and highly active recombination during meiosis, driven by massive changes in human DNA-foreign DNA homologies. Abnormal recombination in gametes produces zygotes containing rare chromosome anomalies that cause neurologic disorders and nonneurologic signs. Neurodevelopmental disorders may be examples of assault on the human genome by foreign DNAs at a critical stage. Some infections may be more likely tolerated because they resemble human DNA segments. Even rare developmental disorders can be screened for homology to infections within altered epigenomes and chromatin structures. Considering effects of foreign DNAs can assist prenatal and genetic counseling, diagnosis, prevention, and early intervention.
    Language English
    Publishing date 2019-07-31
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2566758-0
    ISSN 1178-2226
    ISSN 1178-2226
    DOI 10.1177/1178222619863369
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  2. Article ; Online: Comment on 'The incidence of leukaemia in women with BRCA1 and BRCA2 mutations: an International Prospective Cohort Study'.

    Friedenson, Bernard

    British journal of cancer

    2016  Volume 115, Issue 5, Page(s) e2

    Language English
    Publishing date 2016-08-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 80075-2
    ISSN 1532-1827 ; 0007-0920
    ISSN (online) 1532-1827
    ISSN 0007-0920
    DOI 10.1038/bjc.2016.192
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  3. Article ; Online: Mutations in components of antiviral or microbial defense as a basis for breast cancer.

    Friedenson, Bernard

    Functional & integrative genomics

    2013  Volume 13, Issue 4, Page(s) 411–424

    Abstract: In-depth functional analyses of thousands of breast cancer gene mutations reveals vastly different sets of mutated genes in each of 21 different breast cancer genomes. Despite differences in which genes are mutated, innate immunity pathways and metabolic ...

    Abstract In-depth functional analyses of thousands of breast cancer gene mutations reveals vastly different sets of mutated genes in each of 21 different breast cancer genomes. Despite differences in which genes are mutated, innate immunity pathways and metabolic reactions supporting them are always damaged. These functions depend on many different genes. Mutations may be rare individually but each set of mutations affects some aspect of pathogen recognition and defense, especially those involving viruses. Some mutations cause a dysregulated immune response, which can also increase cancer risks. The frequency of an individual mutation may be less important than its effect on function. This work demonstrates that acquired immune deficiencies and immune dysregulation in cancer can occur because of mutations. Abnormal immune responses represent a hidden variable in breast cancer-viral association studies. Compensating for these abnormalities may open many new opportunities for cancer prevention and therapy.
    MeSH term(s) Animals ; Bacteria/immunology ; Breast Neoplasms/genetics ; Breast Neoplasms/immunology ; Humans ; Immunity, Innate/genetics ; Mutation ; Viruses/immunology
    Language English
    Publishing date 2013-09-21
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 2014670-X
    ISSN 1438-7948 ; 1438-793X
    ISSN (online) 1438-7948
    ISSN 1438-793X
    DOI 10.1007/s10142-013-0336-1
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  4. Article ; Online: Alcohol, acetaldehyde and breast cancer risk.

    Friedenson, Bernard

    Breast (Edinburgh, Scotland)

    2012  Volume 21, Issue 4, Page(s) 612

    MeSH term(s) Alcohol Dehydrogenase/genetics ; Breast Neoplasms/genetics ; Female ; Genotype ; Humans ; Polymorphism, Genetic
    Chemical Substances ADH1C protein, human (EC 1.1.1.1) ; Alcohol Dehydrogenase (EC 1.1.1.1)
    Language English
    Publishing date 2012-08
    Publishing country Netherlands
    Document type Comment ; Letter
    ZDB-ID 1143210-x
    ISSN 1532-3080 ; 0960-9776
    ISSN (online) 1532-3080
    ISSN 0960-9776
    DOI 10.1016/j.breast.2012.03.010
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  5. Article ; Online: A common environmental carcinogen unduly affects carriers of cancer mutations: carriers of genetic mutations in a specific protective response are more susceptible to an environmental carcinogen.

    Friedenson, Bernard

    Medical hypotheses

    2011  Volume 77, Issue 5, Page(s) 791–797

    Abstract: One way an inherited cancer gene mutation may target specific tissues for cancer is by increasing susceptibility when a tissue is exposed to environmental carcinogens. An example of this may be the increased susceptibility of BRCA1 or BRCA2 mutation ... ...

    Abstract One way an inherited cancer gene mutation may target specific tissues for cancer is by increasing susceptibility when a tissue is exposed to environmental carcinogens. An example of this may be the increased susceptibility of BRCA1 or BRCA2 mutation carriers to the carcinogen formaldehyde. Formaldehyde is now a proven cause of human myeloid leukemias. Yet millions of tons of formaldehyde are produced every year and it is everywhere. High formaldehyde levels can overwhelm normal enzyme detoxification systems and cause DNA damage. It is known that some types of formaldehyde-associated DNA damage require error-free DNA repairs mediated by pathways containing BRCA1 and BRCA2 proteins. Otherwise some formaldehyde-related DNA damage cannot be properly repaired so mutations may occur. Therefore, carriers of BRCA1 and BRCA2 gene defects should be unduly susceptible to myeloid leukemia. Studies show that inherited biallelic BRCA2 gene defects dramatically increase risks for myeloid leukemia. Heterozygous BRCA1 or BRCA2 mutations also increase risks for myeloid leukemias in 11 of 12 relevant studies. BRCA1/2 mutation carriers may reduce risks for myeloid leukemias by using available precautions to lower their exposure to formaldehyde.
    MeSH term(s) Carcinogens/toxicity ; DNA Damage ; Genetic Predisposition to Disease ; Humans ; Mutation ; Neoplasms/chemically induced ; Neoplasms/genetics
    Chemical Substances Carcinogens
    Language English
    Publishing date 2011-11
    Publishing country United States
    Document type Journal Article
    ZDB-ID 193145-3
    ISSN 1532-2777 ; 0306-9877
    ISSN (online) 1532-2777
    ISSN 0306-9877
    DOI 10.1016/j.mehy.2011.07.039
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  6. Article ; Online: Dewey defeats Truman and cancer statistics.

    Friedenson, Bernard

    Journal of the National Cancer Institute

    2009  Volume 101, Issue 16, Page(s) 1157

    MeSH term(s) Bias ; Data Interpretation, Statistical ; Female ; Genes, BRCA1 ; Genes, BRCA2 ; Heterozygote ; Humans ; Jews/statistics & numerical data ; Mutation ; Neoplasms/epidemiology ; Neoplasms/mortality ; Ovarian Neoplasms/epidemiology ; Politics ; Research Design ; SEER Program ; Sample Size ; Sampling Studies ; Telephone ; United States/epidemiology
    Language English
    Publishing date 2009-08-19
    Publishing country United States
    Document type Letter
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djp203
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  7. Article: Mutations in components of antiviral or microbial defense as a basis for breast cancer

    Friedenson, Bernard

    Functional & integrative genomics. 2013 Nov., v. 13, no. 4

    2013  

    Abstract: In-depth functional analyses of thousands of breast cancer gene mutations reveals vastly different sets of mutated genes in each of 21 different breast cancer genomes. Despite differences in which genes are mutated, innate immunity pathways and metabolic ...

    Abstract In-depth functional analyses of thousands of breast cancer gene mutations reveals vastly different sets of mutated genes in each of 21 different breast cancer genomes. Despite differences in which genes are mutated, innate immunity pathways and metabolic reactions supporting them are always damaged. These functions depend on many different genes. Mutations may be rare individually but each set of mutations affects some aspect of pathogen recognition and defense, especially those involving viruses. Some mutations cause a dysregulated immune response, which can also increase cancer risks. The frequency of an individual mutation may be less important than its effect on function. This work demonstrates that acquired immune deficiencies and immune dysregulation in cancer can occur because of mutations. Abnormal immune responses represent a hidden variable in breast cancer–viral association studies. Compensating for these abnormalities may open many new opportunities for cancer prevention and therapy.
    Keywords biochemical pathways ; breast neoplasms ; genes ; immune response ; mutation ; pathogens ; risk ; therapeutics ; viruses
    Language English
    Dates of publication 2013-11
    Size p. 411-424.
    Publishing place Springer-Verlag
    Document type Article
    ZDB-ID 2014670-X
    ISSN 1438-7948 ; 1438-793X
    ISSN (online) 1438-7948
    ISSN 1438-793X
    DOI 10.1007/s10142-013-0336-1
    Database NAL-Catalogue (AGRICOLA)

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  8. Article ; Online: The BRCA1/2 pathway prevents hematologic cancers in addition to breast and ovarian cancers.

    Friedenson, Bernard

    BMC cancer

    2007  Volume 7, Page(s) 152

    Abstract: Background: The present study was designed to test the hypothesis that inactivation of virtually any component within the pathway containing the BRCA1 and BRCA2 proteins would increase the risks for lymphomas and leukemias. In people who do not have ... ...

    Abstract Background: The present study was designed to test the hypothesis that inactivation of virtually any component within the pathway containing the BRCA1 and BRCA2 proteins would increase the risks for lymphomas and leukemias. In people who do not have BRCA1 or BRCA2 gene mutations, the encoded proteins prevent breast/ovarian cancer. However BRCA1 and BRCA2 proteins have multiple functions including participating in a pathway that mediates repair of DNA double strand breaks by error-free methods. Inactivation of BRCA1, BRCA2 or any other critical protein within this "BRCA pathway" due to a gene mutation should inactivate this error-free repair process. DNA fragments produced by double strand breaks are then left to non-specific processes that rejoin them without regard for preserving normal gene regulation or function, so rearrangements of DNA segments are more likely. These kinds of rearrangements are typically associated with some lymphomas and leukemias.
    Methods: Literature searches produced about 2500 epidemiology and basic science articles related to the BRCA pathway. These articles were reviewed and copied to a database to facilitate access. Meta-analyses of statistical information compared risks for hematologic cancers vs. mutations for the components in a model pathway containing BRCA1/2 gene products.
    Results: Deleterious mutations of genes encoding proteins virtually anywhere within the BRCA pathway increased risks up to nearly 2000 fold for certain leukemias and lymphomas. Cancers with large increases in risk included mantle cell lymphoma, acute myeloid leukemia, acute lymphocytic leukemia, chronic lymphocytic leukemia, and prolymphocytic leukemia. Mantle cell lymphoma is defined by a characteristic rearrangement of DNA fragments interchanged between chromosomes 11 and 14. DNA translocations or rearrangements also occur in significant percentages of the other cancers.
    Conclusion: An important function of the BRCA pathway is to prevent a subgroup of human leukemias and lymphomas that may involve non-random, characteristic gene rearrangements. Here, the genetic defect in BRCA pathway deficiencies is a chromosomal misrepair syndrome that may facilitate this subgroup of somatic cancers. Inactivation of a single gene within the pathway can increase risks for multiple cancers and inactivation of a different gene in the same pathway may have similar effects. The results presented here may have clinical implications for surveillance and therapy.
    MeSH term(s) Adult ; BRCA1 Protein/metabolism ; BRCA2 Protein/metabolism ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Breast Neoplasms/prevention & control ; Child ; Fanconi Anemia/genetics ; Female ; Genetic Predisposition to Disease ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/metabolism ; Hematologic Neoplasms/prevention & control ; Humans ; Leukemia/genetics ; Lymphoma/genetics ; Male ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Ovarian Neoplasms/prevention & control ; Translocation, Genetic
    Chemical Substances BRCA1 Protein ; BRCA2 Protein
    Language English
    Publishing date 2007-08-06
    Publishing country England
    Document type Journal Article ; Meta-Analysis ; Review
    ISSN 1471-2407
    ISSN (online) 1471-2407
    DOI 10.1186/1471-2407-7-152
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  9. Article ; Online: BRCA1 and BRCA2 pathways and the risk of cancers other than breast or ovarian.

    Friedenson, Bernard

    MedGenMed : Medscape general medicine

    2005  Volume 7, Issue 2, Page(s) 60

    Abstract: Objective: Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose women to breast and ovarian cancer. Female carriers of BRCA1 or BRCA2 gene mutations have very high lifetime risks for breast and ovarian cancers. Genetic ... ...

    Abstract Objective: Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose women to breast and ovarian cancer. Female carriers of BRCA1 or BRCA2 gene mutations have very high lifetime risks for breast and ovarian cancers. Genetic abnormalities occur in all cancers, so BRCA-related pathways are critical because they serve to safeguard genetic content. Although protecting genetic information is a general function, BRCA-related pathways seem largely specific to preventing breast and ovarian cancer. The objective of this study was to resolve this difference between the theoretical functions of BRCA genes and their specific clinical effects.
    Data sources, data extraction, data synthesis: The author collected data published in > 30 epidemiologic studies on the incidence of cancers other than breast or ovarian in mutation carriers and in large populations eligible for mutation testing. Data were extracted and used directly as published whenever possible with a minimum of statistical manipulation.
    Conclusions: Although mutations target breast and ovary, a broader spectrum of cancers also occur with statistically significant elevated frequencies. Risks for "all cancers except breast or ovary" are elevated, with some population subgroups differing with regard to how frequently elevated risks were found at individual sites. Additional sites at risk included stomach, pancreas, prostate, and colon. The increased risk ranged from about 20% to 60%, with the greatest increases in risk in stomach and pancreas. The collected data show BRCA-pathway functions are probably required at multiple sites, not just in breast or ovary. Known interactions and relationships among BRCA-related pathways strongly support the idea that their inactivation provides growth or survival advantages for a variety of cancers. The data suggest applying an increased level of clinical alertness to those with defects in BRCA-related pathways. Identifying molecules that confer growth or survival advantages to BRCA-related cancers may provide broadly useful targets for chemotherapy or chemoprevention.
    MeSH term(s) BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Biomarkers, Tumor/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease/epidemiology ; Genetic Predisposition to Disease/genetics ; Humans ; Incidence ; Mutation ; Neoplasm Proteins/genetics ; Neoplasms/epidemiology ; Neoplasms/genetics ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Risk Assessment/methods ; Risk Factors
    Chemical Substances BRCA1 Protein ; BRCA2 Protein ; Biomarkers, Tumor ; Neoplasm Proteins
    Language English
    Publishing date 2005-06-29
    Publishing country United States
    Document type Journal Article ; Meta-Analysis
    ZDB-ID 2041637-4
    ISSN 1531-0132 ; 1531-0132
    ISSN (online) 1531-0132
    ISSN 1531-0132
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Re: BRCA1 and BRCA2 founder mutations and the risk of colorectal cancer.

    Friedenson, Bernard

    Journal of the National Cancer Institute

    2004  Volume 96, Issue 15, Page(s) 1184–5; author reply 1185–6

    MeSH term(s) Age of Onset ; Breast Neoplasms/genetics ; Colorectal Neoplasms/genetics ; DNA Repair ; Female ; Founder Effect ; Gene Expression Regulation, Neoplastic ; Genes, BRCA1 ; Genes, BRCA2 ; Genes, myc ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation ; Signal Transduction ; Up-Regulation
    Language English
    Publishing date 2004-08-04
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djh236
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