General
General This category includes, but is not limited to: Reviews and general discussions, usually covering multiple subject areas from the categories below; articles of a general nature intended for wider public audience; overview or review articles for a specific medical specialty (such as nurses, radiologists, etc.); papers on a general topic wider than just HBOC (Hereditary Breast and Ovarian Cancer), but covering HBOC topic(s) in reasonable detail; etc. Some of the references in this category are included in specific subcategories below, others are not, depending upon the depth to which they cover the topic of the subcategory.
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Guidelines
Not just clinical guidelines themselves, but any papers dealing with any aspect of guidelines, such as assessments of their effectiveness, assessments of providers' adherence to guidelines, press reports announcing new guideline's release, and so forth
Guidelines Guidelines, recommendation statements, position papers
Genetic Testing Guidelines Guidelines on all aspects of selecting patients for testing, risk assessment, evaluating risk factors, etc.
Management Guidelines All manner of clinical practice guidelines for prevention of cancers, surveillance and early detection, and any other clinical management for persons at high risk of, but not diagnosed with cancer. Also includes any practice guidelines for the prevention or detection of new cancers in cancer patients and survivors
Treatment Guidelines Includes any clinical practices for the treatment or therapy of patients with existing cancer. (Contralateral prophylactic mastectomy, other surgeries and medical/hormonal treatments to prevent additional primary cancers or recurrence in cancer patients can also be considered preventive and may be included in "Management Guidelines", as well.)
Comprehensive Guidelines Any guidelines that cover all three of the above categories
Miscellaneous Guidelines Any that do not fit into the above categories, or have a unique additional element(s)
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Family History
Family History Any features of, associations with, or risks of a family history of breast cancer and/or ovarian cancer, or other cancers or conditions that have been associated with these
Psychosocial Aspects As above, but dealing more specifically with psychosocial concerns and family history
Other Cancer Types, Phenotypes Any papers with significant coverage of family histories with cancers beyond breast and ovarian cancer, or with non-cancer phenotypes/conditions. Also includes unusual subtypes of breast and ovarian cancer.
Ascertainment and Knowledge Provider practices concerning family history collection, ascertainment, and utilization, and approaches to enhance these. Patient knowledge and accuracy in providing family history; tools to assist patient provision of family history information.
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Triple-Negative Breast Cancer
Mutation Spectrum Germline mutations/associations (of and beyond BRCA1/2) underlying TNBC
Phenotype Characterization of aspects of TNBC (including for non-BRCA1/2 carriers, and for non-specified mutation status) beyond molecular and treatment concerns. See "Treatment ~ Triple Negative Breast Cancer " for the latter.
Treatment Molecular/tumor/pathology aspects of TNBC (including in BRCA1/2 mutation noncarriers, and in non-specified mutation status) affecting treatment decisions, effectiveness, outcomes, survival, etc.
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Male BRCA / Breast Cancer
Hereditary Male Breast Cancer, BRCA1/2-related Male Cancers and Features, non-BRCA1/2 Male Breast Cancer
General General topics of hereditary/BRCA male breast cancer and other male BRCA-related cancers
Genetic Testing Includes testing for BRCA1/2 mutations, mutations in other genes associated with male breast cancer, and testing for BRCA1/2 mutations when cancer in males other than breast cancer is involved.
Mutation Spectrum Mutations reported in male breast cancer, of BRCA1/2 and of non-BRCA1/2 genes, other cancers associated with BRCA1/2 mutations in males
Phenotype Phenotype of breast cancer in males, BRCA1/2-related and otherwise. Includes patterns as seen in family histories.
Phenotype—Case Reports Phenotype—as documented in case reports—of male breast cancer, male BRCA1/2 carriers, BRCA-related male cancers
Pathology Pathological characteristics and features of male breast cancer, BRCA- and non-BRCA-related, and of other cancers associated with BRCA1/2 mutations seen in males
Psychosocial Psychosocial aspects, features, and concerns of male breast cancer, male BRCA1/2 mutation carriers and family members, and of other cancers and conditions associated with males and BRCA1/2 mutation status
Management / Therapy / Treatment Treatment and management of breast and other cancers occurring in male BRCA1/2 mutation carriers, management of increased cancer risk in male BRCA1/2 carriers, treatment and management of non-BRCA-related hereditary male breast cancer
Prostate Cancer Mutation Spectrum BRCA1/2 mutations reported in relation to prostate cancer
Prostate Cancer Management Management of risk of prostate cancer related to BRCA1/2 mutations
Prostate Cancer Treatment Treatment for HBOC - or BRCA1/2 mutation-related prostate cancer
Phenotype of BRCA1/2-associated Prostate Cancer Return to Top
Genetic Testing
General Genetic Testing Guidelines Guidelines on all aspects of selecting patients for testing, risk assessment, evaluating risk factors, etc. (Also any papers dealing with or commenting upon the formal guideline papers themselves.)
Population Screening Universal screening for BRCA mutations. Also includes "universal" screening of given subpopulations, such as Ashkenazi Jewish individuals, all ovarian cancer patients, etc.
Male BRCA / Breast Cancer Includes testing for BRCA1/2 mutations, mutations in other genes associated with male breast cancer, and testing for BRCA1/2 mutations when cancer in males other than breast cancer is involved.
Ascertainment for HBOC Testing Criteria — Ascertainment for HBOC Testing Assessment of various factors to determine who is at risk for or who should be considered to be tested for mutations for hereditary cancers
Tools, Mutation Risk — Ascertainment for HBOC Testing Risk assessment models, tools, calculators, methods to ascertain those appropriate for genetic testing
Tools, Breast Cancer Risk — Ascertainment for HBOC Testing Models, tools, calculators, methods to ascertain those at high risk of breast and/or ovarian cancer, from papers with little or no emphasis on mutation detection, but more focused on the cancer risk itself
Economic / Cost Analyses of Genetic Testing Analyses of economic and cost factors and considerations of genetic testing for HBOC
Family — Ascertainment for HBOC Testing Means of identifying and testing of family members of individuals tested for HBOC
Cancer Patients — Ascertainment for HBOC Testing Application of and role of testing in those already diagnosed with cancer; includes when somatic/tumor testing may implicate germline testing
Uptake of Genetic Testing Papers dealing with demographics of testing, timing of testing, numbers of patients tested (or not tested) in given programs, overall population trends in testing, etc.
HBOC Panel Testing Any aspect of using next generation testing in detection of mutations responsible for HBOC ; methods beyond that of sequencing coding regions of individual genes
Treatment-Focused Genetic Testing References concerning germline testing done following cancer diagnosis for the purpose of guiding treatment decisions
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Genetic Counseling
Methods / Approaches Tools and methods of, and approaches to genetic counseling for HBOC , including theories behind such methods
Family Sharing Approaches used specifically to facilitate sharing of genetic counseling/testing results with appropriate family members
Alternative Approaches Methods, tools, sessions beyond the traditional approach to HBOC genetic counseling and testing; includes test result disclosure alternatives, telegenetics, group counseling, video-teleconferencing, online counseling, etc.
Panel Testing Genetic counseling approaches used in panel testing for HBOC ; to expand to include all manner of next-generation sequencing
Genetic Counseling Assessment Assessment of various genetic counseling approaches
Genetic Counseling Assessment — Economic As above, but specifically looking at economic/cost analyses of genetic counseling and genetic counseling approaches
Patient's / Client's Assessment Clients' assessment of, satisfaction with, preferences for, reflections on, criticism/advice on genetic counseling and testing for HBOC
Miscellaneous Return to Top
Psychosocial Topics in HBOC
Family History ~ Psychosocial Aspects Dealing more specifically with psychosocial concerns regarding: Any features of, associations with, or risks of a family history of breast cancer and/or ovarian cancer, or other cancers or conditions that have been associated with these.
Family Sharing Dynamics of patients/clients sharing results of HBOC genetic counseling/testing with other family members
High-Risk Status Concerns Wider-scale. longer-term psychosocial issues and concerns of adjusting to risk status from HBOC family history or testing results
Counseling / Testing Concerns Psychosocial issues and concerns more limited to the immediate genetic counseling/testing process itself, rather than wider, longer-term life concerns with high-risk status
Management / Therapy / Treatment Concerns Psychosocial issues with and decision-making concerns on medical management aspects of HBOC risk status, including prophylactic risk reduction, cancer treatment options (and satisfaction with results), adjusting to risk-reducing surgery and treatment choices, etc.
Male BRCA / Breast Cancer Psychosocial aspects, features, and concerns of male breast cancer, male BRCA1/2 mutation carriers and family members, and of other cancers and conditions associated with males and BRCA1/2 mutation status
Cultural Competency All aspects of providing genetic care in HBOC for various cultures
Narratives Narrative stories from individuals affected in various capacities by HBOC
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Public / Patient Education, Knowledge, Opinions, Preferences, Etc.
Genetic Counseling Impact Information taken away, retained by patients/clients from Genetic Counseling/Testing; perceptions (risk perception, etc.) effected by counseling/testing
Family Impact From Counseling / Testing Information from above shared with, transferred to family members not present at counseling/testing session
Counseling / Testing Assessment by Patient Clients'/Patients'/Probands' assessment of, preferences for, reflections on, criticism of, advice for genetic counseling/testing process/session
Assessment of Alternative Counseling / Testing Clients'/Patients'/Probands' assessment of nontraditional/alternative counseling/testing sessions, approaches, methods
Educational Tools, Web Resources Any manner of tool, resource, publication, program for increasing the knowledge of patients/clients or the general public on any aspect of HBOC
Public Knowledge / Awareness of Breast Cancer or HBOC and Related Topics Articles or methods for increasing knowledge/awareness of such topics (including popular press articles covering HBOC and related); Measures or surveys of public (or subgroups') knowledge of such topics. Includes breast/ovarian cancer risk perceptions, knowledge/opinions on breast/ovarian cancer causes/risk factors, awareness/knowledge of HBOC and genetic testing/counseling, etc.
Angelina Jolie Effect Any aspect pertaining to changes of public knowledge/awareness/opinions of HBOC related to Angelina Jolie's disclosures of her own experiences
Angelina Jolie Effect on Uptake Any aspect of the "Angelina Jolie Effect", particularly on increased uptake of various genetic services related to breast/ovarian cancer risk; includes responses of genetics professionals and other health care providers
Information Needs Of... Surveys of, presentations of, or commentary upon HBOC information needs of specific groups of patients/clients or the public, including psychosocial and support needs
Management Knowledge, Adherence, and Practices Factors affecting or surveys of patient/public knowledge and/or practices concerning HBOC surveillance, prevention, management, decision-making, etc., including preferences/motivations for genetic testing
Incidental Findings Preferences for return of incidental findings or research results
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Healthcare Providers' Education, Knowledge, Opinions, Preferences, Roles in Provision of / Referral to HBOC Genetic Services
General References pertaining to or intended for healthcare providers generally, or including two or more of the categories below
Genetics Specialists Includes Genetic Counselors, Clinical Geneticists, Cancer Geneticists, other genetic specialists, Advanced Practice Genetic/Oncology Nurses, etc.
Primary Care Primary Care Providers, General Practitioners, Family Practice, etc.
Surgeons Including Gynecologic Oncologists—Surgery Practice
Oncologists Including Gynecologic Oncologists
Obstetrician Gynecologists Nurses Including Nurse Practitioners, Nurse Navigators, etc.
Students Students in Medical School and at all other levels; Genetic Counseling students placed under "Genetics Specialists", above.
Other All other types of healthcare providers or specialties not included in categories above.
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Mutation Spectrum of HBOC
"Standard" BRCA1/2 Mutations For the most part, rare exon mutations of single or few bases. But any papers that mostly present these types of mutations, alone or in combination with other "non-standard" types of mutations.
Rearrangements of BRCA1/2 Non-Standard BRCA1/2 Mutations, Expression-modifying Conditions Includes BRCA1/2 polymorphisms/SNPs , mutations in control regions or non-exon portions of the genes, elements physically linked to BRCA1/2 that may modify their expression (See BRCA1/2 Modifiers ~ Mutation Spectrum for elements that are separate from BRCA1/2 but may modify their expression.)
BRCA1/2 Modifiers Elements physically separate from BRCA1/2 that may modify their expression. Includes double heterozygosity, when the separate element is a cancer predisposition gene in its own right. Also includes polymorphisms/SNPs (other than those in BRCA1/2 themselves) that may effect BRCA1/2 expression, when in the presence of BRCA1/2 mutations.
Male BRCA / Breast Cancer Mutation Spectrum Mutations reported in male breast cancer, of BRCA1/2 and of non-BRCA1/2 genes, other cancers associated with BRCA1/2 mutations in males
Other Genes Associated with Breast and Ovarian Cancer Non-BRCA1/2 genes/mutations known or suspected to increase risk for breast and/or ovarian cancer
Mutation Spectrum from Gene Panels Genes/Mutations reported from gene panel/next generation sequencing studies (often, but not always, including BRCA1/2) of breast and/or ovarian cancer
"Other" HBOC Cancers For HBOC -related or -suspected cancers other than "breast cancer". Includes studies concerning isolated subtypes of breast cancer (e.g. lobular breast cancer, triple-negative breast cancer, etc.) and of ovarian cancer alone or of isolated subtypes of ovarian cancer and of "other" cancers that may appear to be associated with HBOC . For mutation spectrum associated with prostate cancer, see the dedicated section, HBOC-Related Prostate Cancer Mutation Spectrum .
HBOC-Related Prostate Cancer Mutation Spectrum Any studies concerning/mentioning BRCA1/2 mutations in association with prostate cancer
Triple-Negative Breast Cancer Mutation Spectrum Germline mutations/associations (beyond BRCA1/2) underlying TNBC
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Variants of Uncertain Significance
General References with mention or simple discussion or brief review of VUS , general reviews of VUS, healthcare provider practices concerning VUS, patient understanding/surveys of VUS, database sharing of sequencing results for purposes of clarifying VUS status
Frequency / Rates Rates of VUS discovery reported in various sequencing studies, including panel/next generation sequencing
Individual VUS Reports References reporting on small set of or single variants or types of VUS , includes case reports and family histories of VUS carriers
Systems Systems, methods, models, algorithms, assays, consortia for assessing/classifying variants of uncertain significance
Cohorts Studies with VUS carriers as study group cohort
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Sequencing Techniques / Technology
Gene Sequencing Technical aspects of single-gene (mostly BRCA1/2) testing, including techniques for non-standard gene features such as introns, rearrangements, CNVs , indels (insertions/deletions), alternative splicing, SNPs , etc.
Next Generation Sequencing Technical aspects of next generation sequencing and panel testing (For applications and clinical result reports, see "Mutation Spectrum from Gene Panels ", mostly.)
Sequencing from Tissues Sequencing DNA from other than standard (i.e., blood, cheek swab) sources: tumor, FFPE (formalin-fixed paraffin-embedded tumor tissue), pap smear, etc.
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Phenotype / Expression / Risk Spectrum of HBOC General
General Risk General or comprehensive presentations or reviews of risk from HBOC
Genotype / Phenotype Studies References examining phenotypic effects of specific genes or gene mutations
Genetic Anticipation Category also includes "cohort effect" and "parent-of-origin effect".
Pathology, Tissue/Cellular Phenotype Papers dealing with any differences or changes seen at the cellular or tissue level in BRCA1/2 carriers or other forms of inherited/familial breast/ovarian cancer. (Category extends beyond the traditional oncological use of the term "pathology".) Includes various forms of molecular differences (protein, RNA, hormone, etc.), gene expression, structural differences, etc. Concerns not just tumor tissue, but any normal tissue type as well, in affected or unaffected individuals. Basically, any tissue or cellular features that may potentially differ in any HBOC-related subgroup.
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Phenotype / Expression / Risk Spectrum of HBOC Breast Cancer
General / Overall Risk ~ Breast Cancer Breast Cancer Types Specific breast cancer subtypes or pathologies associated with given genes/mutations
Lifestyle ~ Breast Cancer Effects of lifestyle factors on HBOC expression/phenotype. Includes physical activity, BMI , diet, smoking, alcohol, reproductive factors, menarche, parity, breastfeeding, oral contraceptive use, shift work, etc.
"Other" ~ Breast Cancer Factors unrelated to direct standard BRCA1/2 mutations on breast cancer risk/expression; includes family history, unusual BRCA1/2 features such as splice-site mutations, SNPs /common polymorphisms, promoter methylation, double heterozygotes, etc.
Phenotypes related to Risk-Reducing Surgery, Prevention ~ Breast Cancer Phenotypes related to Treatment of Breast Cancer Return to Top
Phenotype / Expression / Risk Spectrum of HBOC Ovarian Cancer
General / Overall Risk ~ Ovarian Cancer Ovarian Cancer Types Specific ovarian cancer subtypes or pathologies associated with given genes/mutations
Lifestyle ~ Ovarian Cancer Effects of lifestyle factors on ovarian cancer expression/phenotype. Includes physical activity, BMI , diet, smoking, alcohol, reproductive factors, menarche, parity, breastfeeding, oral contraceptive use, shift work, etc.
"Other" ~ Ovarian Cancer Factors unrelated to direct standard BRCA1/2 mutations on ovarian cancer risk/expression; includes family history, , unusual BRCA1/2 features such as splice-site mutations, SNPs /common polymorphisms, double heterozygotes, etc.
Phenotypes related to Risk-Reducing Surgery, Prevention ~ Ovarian Cancer Phenotypes related to Treatment of Ovarian Cancer Phenotype of Ovarian Cancer due to non-BRCA1/2 Genes Return to Top
Phenotype / Expression / Risk Spectrum of HBOC Other Phenotypes / Risks
Phenotype / Expression / Risk Spectrum of HBOC Phenotypes of "Other" Cancers, Genes, Mutations
Management
For the categories "Management" and "Cancer Therapy / Treatment", "management" is considered a separate entity from "treatment" or "therapy". Treatment or therapy is defined here as topics concerning action taken to treat existing cancer. "Management" is limited to individuals without diagnosed cancer—for purposes of preventing cancer or detecting the new occurrence of cancer, and to cancer survivors beyond the treatment phase of active cancer—for purposes of preventing or detecting new or recurrent cancers, or general follow-up of survivors' health. (Also note that some forms of preventive "management", such as contralateral prophylactic mastectomy, can take place during the active treatment of cancer patients, and can be included in the Management category as well.)
Guidelines All manner of clinical practices for prevention of cancers, surveillance and early detection, and any other clinical management for persons at high risk but not diagnosed with cancer. Also includes any practices for the prevention or detection of new cancers in cancer patients and survivors.
Overall Management Imaging Chemoprevention Male BRCA / Breast Cancer ~ Therapy / Treatment / Management Treatment and management of breast and other cancers occurring in male BRCA1/2 mutation carriers, management of increased cancer risk in male BRCA1/2 carriers, treatment and management of non-BRCA-related hereditary male breast cancer
BRCA1/2-Related Prostate Cancer Management of risk of and treatment of prostate cancer related to BRCA1/2 mutations
BRCA1/2-Related Pancreatic Cancer Management of risk of and screening for pancreatic cancer
Psychosocial ~ Management / Therapy / Treatment Psychosocial issues with and decision-making concerns on medical management aspects of HBOC risk status, including prophylactic risk reduction, cancer treatment options (and satisfaction with results), adjusting to risk-reducing surgery and treatment choices, etc.
Decision-Making ~ Management Decision-making around issues of management and prevention, including information needs, adherence, etc.
Management Beyond BRCA1/2 Management of high risk for breast and/or ovarian cancer beyond that for BRCA1/2 mutations
Post-Prophylactic Surgery / Hormone Replacement ~ Management Includes management issues of hormone replacement therapy and all types of management following risk-reducing surgery.
Lifestyle and Management Includes diet, exercise, smoking, reproductive factors, contraceptive use, etc.
Pregnancy and HBOC ~ Management Management Uptake / Adherence References concerning the statistics or counts of those choosing various management options
Fertility Preservation in HBOC Preimplantation Genetic Diagnosis (PGD) in HBOC References concerning any form of prenatal diagnosis/testing/decisions related to HBOC, including Preimplantation Genetic Diagnosis
Miscellaneous ~ Management All references that do not fit into, or that stand apart from, the categories above
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ManagementProphylactic Surgery ~ General
ManagementRisk-Reducing Salpingo-Oophorectomy
ManagementRisk-Reducing Mastectomy
ManagementContralateral Prophylactic Mastectomy
Cancer Therapy / Treatment
Note on Usage: Treatment or therapy is defined here as topics concerning action taken to treat existing cancer. "Management" is limited to individuals without diagnosed cancer—for purposes of preventing cancer or detecting the new occurrence of cancer, and to cancer survivors beyond the treatment phase of active cancer—for purposes of preventing or detecting new or recurrent cancers, or general follow-up of survivors' health. (Also note that some forms of preventive "management", such as contralateral prophylactic mastectomy, can take place during the active treatment of cancer patients, and can be included in the Management category as well.)
General When a reference combines three or more of the categories below, or is beyond the scope of any of them
Guidelines Includes any clinical practices for the treatment or therapy of patients with existing cancer. (Contralateral prophylactic mastectomy, other surgeries and medical/hormonal treatments to prevent additional primary cancers or recurrance in cancer patients can also be considered preventive and may be included in "Management Guidelines ", as well.)
Medical Treatment — General References combining topics of medical treatment of breast, ovarian, and/or other cancers of the HBOC spectrum. Includes research on or application of PARP inhibitors for treatment of cancers other than typical HBOC breast and ovarian tumors. See Medical Treatment ~ Breast Cancer and Medical Treatment ~ Ovarian Cancer for the latter.
Psychosocial ~ Therapy / Treatment / Management Psychosocial issues with and decision-making concerns on medical management aspects of HBOC risk status, including prophylactic risk reduction, cancer treatment options (and satisfaction with results), adjusting to risk-reducing surgery and treatment choices, etc.
Male BRCA / Breast Cancer ~ Therapy / Treatment / Management Treatment and management of breast and other cancers occurring in male BRCA1/2 mutation carriers, management of increased cancer risk in male BRCA1/2 carriers, treatment and management of non-BRCA-related hereditary male breast cancer
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Cancer Therapy / TreatmentBreast Cancer Treatment
Cancer Therapy / TreatmentOvarian Cancer Treatment
Cancer Therapy / TreatmentOther Treatment / Therapy Topics
Pancreatic Cancer Treatment Treatment for HBOC - or BRCA1/2 mutation-related pancreatic cancer
Prostate Cancer Treatment Treatment for HBOC - or BRCA1/2 mutation-related prostate cancer
Treatment of Other Cancers Treatment of HBOC - or BRCA1/2 mutation-related cancers other than breast , ovarian , pancreatic , and prostate cancers; See other sections focused on those cancers individually.
Tumor / Somatic Testing ~ Therapy / Treatment All manner of testing of somatic tumor tissue in HBOC -related cancers for the purposes of making treatment decisions
Triple-Negative Breast Cancer ~ Therapy / Treatment Molecular/tumor/pathology aspects of TNBC (mostly in BRCA1/2 mutation noncarriers, or non-specified mutation status) affecting treatment decisions, effectiveness, outcomes, survival, etc.
BRCAness ~ Therapy / Treatment References concerning characteristics of tumors of BRCA1/2 mutation non-carriers and response to therapy, primarily to PARP inhibitor treatment
Treatment-Focused Genetic Testing References concerning germline testing done following cancer diagnosis for the purpose of guiding treatment decisions
Pharmaco-genomics / -genetics and breast/ovarian cancer Miscellaneous Topics ~ Therapy / Treatment All references that do not fit into, or otherwise stand apart from, the treatment categories above
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Miscellaneous Topics