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1.
Hered Cancer Clin Pract ; 22(1): 7, 2024 May 13.
Artículo en Inglés | MEDLINE | ID: mdl-38741145

RESUMEN

BACKGROUND: It has not been clearly established if skin cancer or melanoma are manifestations of BRCA1 or BRCA2 mutation carrier status. Estimating the risk of skin cancer is an important step towards developing screening recommendations. METHODS: We report the findings of a prospective cohort study of 6,207 women from North America who carry BRCA1 or BRCA2 mutations. Women were followed from the date of baseline questionnaire to the diagnosis of skin cancer, to age 80 years, death from any cause, or the date of last follow-up. RESULTS: During the mean follow-up period of eight years, 3.7% of women with a BRCA1 mutation (133 of 3,623) and 3.8% of women with a BRCA2 mutation (99 of 2,584) reported a diagnosis of skin cancer (including both keratinocyte carcinomas and melanoma). The cumulative risk of all types of skin cancer from age 20 to 80 years was 14.1% for BRCA1 carriers and 10.7% for BRCA2 carriers. The cumulative risk of melanoma was 2.5% for BRCA1 carriers and 2.3% for BRCA2 carriers, compared to 1.5% for women in the general population in the United States. The strongest risk factor for skin cancer was a prior diagnosis of skin cancer. CONCLUSION: The risk of non-melanoma skin cancer in women who carry a mutation in BRCA1 or BRCA2 is similar to that of non-carrier women. The risk of melanoma appears to be slightly elevated. We suggest that a referral to a dermatologist or primary care provider for BRCA mutation carriers for annual skin examination and counselling regarding limiting UV exposure, the use of sunscreen and recognizing the early signs of melanoma might be warranted, but further studies are necessary.

2.
Cancer ; 129(6): 901-907, 2023 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-36571512

RESUMEN

BACKGROUND: The purpose of this study was to estimate the cumulative risks of all cancers in women from 50 to 75 years of age with a BRCA1 or BRCA2 pathogenic variant. METHODS: Participants were women with BRCA1 or BRCA2 pathogenic variants from 85 centers in 16 countries. Women were eligible if they had no cancer before the age of 50 years. Participants completed a baseline questionnaire and follow-up questionnaires every 2 years. Women were followed from age 50 until a diagnosis of cancer, death, age 75, or last follow-up. The risk of all cancers combined from age 50 to 75 was estimated using the Kaplan-Meier method. RESULTS: There were 2211 women included (1470 BRCA1 and 742 BRCA2). There were 379 cancers diagnosed in the cohort between 50 and 75 years. The actuarial risk of any cancer from age 50 to 75 was 49% for BRCA1 and 43% for BRCA2. Breast (n = 186) and ovarian (n = 45) were the most frequent cancers observed. For women who had both risk-reducing mastectomy and bilateral salpingo-oophorectomy before age 50, the risk of developing any cancer between age 50 and 75 was 9%. CONCLUSION: Women with a BRCA1 or BRCA2 pathogenic variant have a high risk of cancer between the ages of 50 and 75 years and should be counselled appropriately.


Asunto(s)
Proteína BRCA1 , Proteína BRCA2 , Predisposición Genética a la Enfermedad , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Genes BRCA2 , Mastectomía , Mutación , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Ovariectomía
3.
Breast Cancer Res Treat ; 201(2): 257-264, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37432545

RESUMEN

PURPOSE: Chemoprevention with a selective estrogen receptor modulator (tamoxifen or raloxifene) is a non-surgical option offered to high-risk women to reduce the risk of breast cancer. The evidence for tamoxifen benefit is based on trials conducted among predominantly postmenopausal women from the general population and on studies of contralateral breast cancer in women with a pathogenic variant (mutation hereafter) in BRCA1 or BRCA2. Tamoxifen has not been assessed as a primary prevention agent in women with an inherited BRCA mutation. METHODS: We conducted a prospective analysis of tamoxifen chemoprevention and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation. Data on tamoxifen (and raloxifene) use was collected by questionnaire and updated biennially. Information on incident cancers was collected by self-report and was confirmed by medical record review. In a matched analysis, we estimated the hazard ratio (HR) and 95% confidence intervals (CI) for developing a first primary breast cancer associated with tamoxifen or raloxifene use, using Cox proportional hazards analysis. RESULTS: There were 4578 unaffected women in the cohort, of whom 137 reported tamoxifen use (3%), 83 reported raloxifene use (2%) and 12 used both drugs (0.3%). Women who used tamoxifen or raloxifene were matched 1:3 with women who used neither drug on year of birth, country of residence, year of study entry and gene (BRCA1 or BRCA2). We generated 202 matched pairs. After a mean follow-up of 6.8 years, there were 22 incident breast cancers diagnosed among tamoxifen/raloxifene users (10.9% of users) and 71 cases diagnosed among non-users (14.3% of non-users; HR = 0.64; 95% CI 0.40-1.03; P = 0.07). CONCLUSION: Chemoprevention may be an effective risk-reduction option for BRCA mutation carriers, but further studies with longer follow-up are necessary.


Asunto(s)
Neoplasias de la Mama , Tamoxifeno , Humanos , Femenino , Tamoxifeno/efectos adversos , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Clorhidrato de Raloxifeno/efectos adversos , Genes BRCA1 , Mutación , Factores de Riesgo , Proteína BRCA1/genética , Proteína BRCA2/genética
4.
JAMA Oncol ; 10(4): 493-499, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38421676

RESUMEN

Importance: Magnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined. Objective: To compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not. Design, Setting, and Participants: Women with a BRCA1 or BRCA2 sequence variation were identified from 59 participating centers in 11 countries. Participants completed a baseline questionnaire between 1995 and 2015 and a follow-up questionnaire every 2 years to document screening histories, incident cancers, and vital status. Women who had breast cancer, a screening MRI examination, or bilateral mastectomy prior to enrollment were excluded. Participants were followed up from age 30 years (or the date of the baseline questionnaire, whichever was later) until age 75 years, the last follow-up, or death from breast cancer. Data were analyzed from January 1 to July 31, 2023. Exposures: Entrance into an MRI surveillance program. Main Outcomes and Measures: Cox proportional hazards modeling was used to estimate the hazard ratios (HRs) and 95% CIs for breast cancer mortality associated with MRI surveillance compared with no MRI surveillance using a time-dependent analysis. Results: A total of 2488 women (mean [range] age at study entry 41.2 [30-69] years), with a sequence variation in the BRCA1 (n = 2004) or BRCA2 (n = 484) genes were included in the analysis. Of these participants, 1756 (70.6%) had at least 1 screening MRI examination and 732 women (29.4%) did not. After a mean follow-up of 9.2 years, 344 women (13.8%) developed breast cancer and 35 women (1.4%) died of breast cancer. The age-adjusted HRs for breast cancer mortality associated with entering an MRI surveillance program were 0.20 (95% CI, 0.10-0.43; P < .001) for women with BRCA1 sequence variations and 0.87 (95% CI, 0.10-17.25; P = .93) for women with BRCA2 sequence variations. Conclusion and Relevance: Results of this cohort study suggest that among women with a BRCA1 sequence variation, MRI surveillance was associated with a significant reduction in breast cancer mortality compared with no MRI surveillance. Further studies of women with BRCA2 sequence variations are needed to ascertain these women obtain the same benefits associated with MRI surveillance.


Asunto(s)
Neoplasias de la Mama , Femenino , Humanos , Adulto , Anciano , Persona de Mediana Edad , Neoplasias de la Mama/patología , Proteína BRCA1/genética , Genes BRCA2 , Proteína BRCA2/genética , Mastectomía , Estudios de Cohortes , Genes BRCA1 , Mutación , Gestión de Riesgos , Imagen por Resonancia Magnética
5.
Oncotarget ; 9(29): 20304-20322, 2018 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-29755653

RESUMEN

The current algorithm for Lynch syndrome diagnosis is highly complex with multiple steps which can result in an extended time to diagnosis while depleting precious tumor specimens. Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext-Lynch-MMR, which generates a comprehensive genetic profile of both germline and somatic mutations that can accelerate and streamline the time to diagnosis and preserve specimen. TumorNext-Lynch-MMR can detect single nucleotide variants, small insertions and deletions in 39 genes that are frequently mutated in Lynch syndrome and colorectal cancer. Moreover, the panel provides microsatellite instability status and detects loss of heterozygosity in the five Lynch genes; MSH2, MSH6, MLH1, PMS2 and EPCAM. Clinical cases are described that highlight the assays ability to differentiate between somatic and germline mutations, precisely classify variants and resolve discordant cases.

6.
JAMA ; 297(23): 2587-95, 2007 Jun 20.
Artículo en Inglés | MEDLINE | ID: mdl-17579227

RESUMEN

CONTEXT: An autosomal dominant pattern of hereditary breast cancer may be masked by small family size or transmission through males given sex-limited expression. OBJECTIVE: To determine if BRCA gene mutations are more prevalent among single cases of early onset breast cancer in families with limited vs adequate family structure than would be predicted by currently available probability models. DESIGN, SETTING, AND PARTICIPANTS: A total of 1543 women seen at US high-risk clinics for genetic cancer risk assessment and BRCA gene testing were enrolled in a prospective registry study between April 1997 and February 2007. Three hundred six of these women had breast cancer before age 50 years and no first- or second-degree relatives with breast or ovarian cancers. MAIN OUTCOME MEASURE: The main outcome measure was whether family structure, assessed from multigenerational pedigrees, predicts BRCA gene mutation status. Limited family structure was defined as fewer than 2 first- or second-degree female relatives surviving beyond age 45 years in either lineage. Family structure effect and mutation probability by the Couch, Myriad, and BRCAPRO models were assessed with stepwise multiple logistic regression. Model sensitivity and specificity were determined and receiver operating characteristic curves were generated. RESULTS: Family structure was limited in 153 cases (50%). BRCA gene mutations were detected in 13.7% of participants with limited vs 5.2% with adequate family structure. Family structure was a significant predictor of mutation status (odds ratio, 2.8; 95% confidence interval, 1.19-6.73; P = .02). Although none of the models performed well, receiver operating characteristic analysis indicated that modification of BRCAPRO output by a corrective probability index accounting for family structure was the most accurate BRCA gene mutation status predictor (area under the curve, 0.72; 95% confidence interval, 0.63-0.81; P<.001) for single cases of breast cancer. CONCLUSIONS: Family structure can affect the accuracy of mutation probability models. Genetic testing guidelines may need to be more inclusive for single cases of breast cancer when the family structure is limited and probability models need to be recreated using limited family history as an actual variable.


Asunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación , Adulto , Edad de Inicio , Neoplasias de la Mama/epidemiología , Composición Familiar , Femenino , Genes Dominantes , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Persona de Mediana Edad , Modelos Genéticos , Linaje , Probabilidad , Sistema de Registros , Medición de Riesgo
7.
Chest ; 125(4): 1328-34, 2004 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15078742

RESUMEN

BACKGROUND: Pericardial effusion in the patient with cancer presents a unique management problem. Although multiple methods of operative and nonoperative drainage of pericardial effusions have been described, surgical pericardial window remains the standard approach to long-term drainage. Selecting the patient who may benefit from an operative approach presents a difficult challenge. In the present study, we retrospectively analyzed the clinical outcome of 63 consecutive patients with malignancy who underwent surgical pericardial window for symptomatic pericardial effusion between January 1, 1990, and July 1, 2001, at City of Hope National Medical Center in order to try to determine whether the type of cancer, the presence of malignant cells in pericardial fluid, or tissue specimens or the method of surgery influenced the incidence of recurrent pericardial effusion or duration of survival. METHODS: The cohort was comprised of 15 patients with non-small cell lung cancer (NSCLC), 22 patients with breast cancer, 17 patients with hematologic malignancy, and 9 patients with other solid tumors. Pertinent clinical, laboratory, hospital stay, and outcome data including long-term follow-up were recorded. Patients were followed up until the time of last clinical follow-up or death. Univariate survival analyses were performed to determine significant clinical factors contributing to outcome. RESULTS: Median follow-up was 6.6 months for the group and 8.3 months for those alive at last follow-up. Median survival rates for patients with lung, breast, hematologic, and other solid-tumor malignancies were 3.2 months, 8.8 months, 17 months, and 16.4 months, respectively. Preoperative factors that negatively correlated with survival included a diagnosis of NSCLC (p = 0.0014), the presence of a pleural effusion (p = 0.003), or positive pathologic (p = 0.02) or cytologic findings (p = 0.02). CONCLUSIONS: A surgical approach to pericardial drainage is effective (< 5% failure rate) and provides an opportunity for continued therapy with the potential for relief of dyspnea and improvement in quality of life and survival in selected patients.


Asunto(s)
Drenaje/métodos , Neoplasias/complicaciones , Derrame Pericárdico/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Proteínas de Drosophila , Disnea/prevención & control , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Factores de Iniciación de Péptidos , Pronóstico , Estudios Retrospectivos
8.
Arch Surg ; 138(12): 1323-8; discussion 1329, 2003 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-14662532

RESUMEN

HYPOTHESIS: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment. PATIENTS AND INTERVENTIONS: Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review board-approved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment. RESULTS: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probability of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (P<.001). CONCLUSIONS: Genetic cancer risk assessment at the time of breast cancer diagnosis significantly affected women's treatment decisions. Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging.


Asunto(s)
Neoplasias de la Mama/genética , Neoplasias de la Mama/psicología , Toma de Decisiones , Genes BRCA1 , Mutación , Adulto , Neoplasias de la Mama/cirugía , Distribución de Chi-Cuadrado , Femenino , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Estudios Prospectivos , Sistema de Registros , Medición de Riesgo
9.
Ann Thorac Surg ; 74(5): 1724-6, 2002 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-12440650

RESUMEN

A new approach for the removal of thymic tissue or any anterior mediastinal pathology is described. It uses a novel low U-shaped skin incision combined with a J-shaped upper mini-sternotomy. This technique was designed to provide wide exposure of the mediastinum and to be cosmetically appealing. Our study included 12 patients, 4 with a preoperative diagnosis of myasthenia gravis. There were no operative mortality and three complications. This procedure allows for complete removal of all thymic tissue under direct vision, and is less invasive that full sternotomy.


Asunto(s)
Estética , Neoplasias del Mediastino/cirugía , Cicatrización de Heridas/fisiología , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/cirugía , Esternón/cirugía , Timectomía/métodos , Timoma/cirugía , Neoplasias del Timo/cirugía
10.
Cancer Genet Cytogenet ; 148(2): 163-5, 2004 Jan 15.
Artículo en Inglés | MEDLINE | ID: mdl-14734232

RESUMEN

Multiple primary malignancies in an individual patient are thought to be a common feature of hereditary disease. Asymptomatic renal neoplasms have been described in up to 4% of rectal cancer patients. We have assessed whether microsatellite instability is present in the rectal and renal tumors of patients presenting at our institution with primary renal and rectal cancers. Of the seven patients presenting with both diagnoses, paraffin blocks were available from five cases of colorectal cancer and six renal neoplasms. Five of six cases of renal tumors were informative and all were microsatellite instability (MSI) stable. One renal tumor was deemed inconclusive because of inadequate amplification. Four of five cases of rectal cancer were MSI stable. These data suggest that these renal and rectal tumors developed independently of a mismatch repair defect and that, unlike epithelial tumors of the renal collecting system, renal parenchymal lesions are unlikely to be part of the spectrum of hereditary nonpolyposis colorectal cancer.


Asunto(s)
Inestabilidad Genómica , Neoplasias Renales/genética , Repeticiones de Microsatélite , Neoplasias del Recto/genética , Marcadores Genéticos , Humanos , Estudios Retrospectivos
11.
J Pain Symptom Manage ; 25(6): 528-38, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12782433

RESUMEN

This study describes the symptom experience of women with ovarian cancer. A body of data consisting of 21,806 letters, cards, and e-mails written by ovarian cancer patients was donated to the City of Hope investigators by the founder and editor of Conversations!: The International Newsletter for Those Fighting Ovarian Cancer. Using ethnographic qualitative research procedures, meaningful comments in the data were bracketed and coded within physical, psychological, social, and spiritual domains according to the City of Hope QOL-Ovarian Cancer instrument. Six hundred seventy-seven (677) comments were identified as pertaining to pre- and post-diagnostic symptomatology. Findings, based on major themes derived from the analysis, included distress over delayed diagnoses given the presence of pre-diagnosis symptoms. Frequently described post-diagnosis symptoms included pain, fatigue, gastrointestinal effects, and menstrual and fertility changes. Women demonstrated resourcefulness and optimism by sharing innovative ideas for coping with varied symptoms. Significant attention was dedicated to complementary and alternative therapies, both for symptom management and with curative intent. Findings demonstrate the need to improve diagnostic tests, symptom management, and patient education.


Asunto(s)
Neoplasias Ováricas/complicaciones , Neoplasias Ováricas/psicología , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos
12.
Oncol Nurs Forum ; 32(6): 1143-9, 2005 Nov 03.
Artículo en Inglés | MEDLINE | ID: mdl-16270110

RESUMEN

PURPOSE/OBJECTIVES: To describe quality-of-life (QOL) concerns particular to women with ovarian cancer and to examine whether subgroups of patients with ovarian cancer have significantly different QOL concerns. DESIGN: Mailed survey. SAMPLE: Readership of an ovarian cancer newsletter. METHODS: A total of 1,383 surveys were received in response to the survey's inclusion in the November 2002 issue of Conversations! The International Newsletter for Those Fighting Ovarian Cancer, a monthly newsletter circulated to 3,300 women with ovarian cancer (response rate = 42%). Women were asked to complete the 45-item City of Hope QOL Ovarian Cancer Tool (QOL-OVCA) and a short demographic questionnaire. MAIN RESEARCH VARIABLES: Patients' QOL-OVCA scores were compared across six independent variables, including disease status, age at diagnosis, stage at diagnosis, marital status, household income, and use of alternative therapy, controlling for survival time. FINDINGS: Ovarian cancer survivors reported significant QOL concerns across dimensions of physical, psychological, social, and spiritual well-being. CONCLUSIONS: Patients with ovarian cancer experience particular QOL concerns requiring support. Future research is needed to describe the needs of survivors in more diverse populations and to develop and test interventions that can address these QOL concerns. IMPLICATIONS FOR NURSING: Women with ovarian cancer experience QOL concerns common to other patients with cancer and some that are particular to ovarian cancer. Nurses should assess for and aggressively address these QOL concerns.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/psicología , Calidad de Vida , Adulto , Distribución por Edad , Anciano , Terapias Complementarias/estadística & datos numéricos , Emociones , Relaciones Familiares , Femenino , Salud Global , Encuestas Epidemiológicas , Humanos , Persona de Mediana Edad , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/terapia , Compuestos de Platino/uso terapéutico , Investigación Cualitativa , Factores Socioeconómicos , Análisis de Supervivencia
13.
Pain Manag Nurs ; 6(4): 175-81, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16337565

RESUMEN

The cost associated with surgical procedures has been dramatically decreased by the ability to perform these procedures on an outpatient basis. Pain and nausea, two common symptoms after anesthesia and surgical procedures, are among the greatest concerns for patients and their family members. As a result of the distress and sequelae associated with these symptoms, clinicians have attempted to determine the optimal intraoperative and postoperative symptom management for patients. The purpose of this quality improvement project was to describe the incidence of these symptoms and their management in patients who underwent planned outpatient surgical procedures in a cancer center. A sample of 39 patients were accrued at a comprehensive cancer center over a 3-month period. Data were collected at three specific time points (i.e., preoperatively, at 24 hours and at 7 days postoperatively). Postoperative pain and nausea were generally well managed, but improvement was needed in preoperative patient teaching, including the topics of drug and nondrug interventions. The methods used in this project have potential application for the measurement of other clinical outcomes after outpatient surgical procedures.


Asunto(s)
Procedimientos Quirúrgicos Ambulatorios/normas , Actitud Frente a la Salud , Dolor Postoperatorio/prevención & control , Atención Perioperativa/normas , Náusea y Vómito Posoperatorios/prevención & control , Adulto , Anciano , Procedimientos Quirúrgicos Ambulatorios/efectos adversos , Procedimientos Quirúrgicos Ambulatorios/enfermería , Procedimientos Quirúrgicos Ambulatorios/psicología , Instituciones Oncológicas , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Evaluación de Necesidades , Neoplasias/enfermería , Neoplasias/psicología , Neoplasias/cirugía , Investigación en Evaluación de Enfermería , Investigación Metodológica en Enfermería , Evaluación de Resultado en la Atención de Salud , Dolor Postoperatorio/epidemiología , Dolor Postoperatorio/etiología , Dolor Postoperatorio/psicología , Educación del Paciente como Asunto/normas , Atención Perioperativa/enfermería , Atención Perioperativa/psicología , Náusea y Vómito Posoperatorios/epidemiología , Náusea y Vómito Posoperatorios/etiología , Náusea y Vómito Posoperatorios/psicología , Encuestas y Cuestionarios , Gestión de la Calidad Total
14.
Int J Cancer ; 117(6): 988-91, 2005 Dec 20.
Artículo en Inglés | MEDLINE | ID: mdl-15986445

RESUMEN

Early age at first birth and multiparity have been associated with a decrease in the risk of breast cancer in women in the general population. We examined whether this relationship is also present in women at high risk of breast cancer due to the presence of a mutation in either of the 2 breast cancer susceptibility genes, BRCA1 or BRCA2. We performed a matched case-control study of 1,260 pairs of women with known BRCA1 or BRCA2 mutations, recruited from North America, Europe and Israel. Women who had been diagnosed with breast cancer were matched with unaffected control subjects for year of birth, country of residence, and mutation (BRCA1 or BRCA2). Study subjects completed a questionnaire detailing their reproductive histories. Odds ratios (ORs) and 95% confidence intervals (CIs) were derived by conditional logistic regression. Among BRCA1 carriers, parity per se was not associated with the risk of breast cancer (OR for parous vs. nulliparous = 0.94; 95% CI = 0.75-1.19; p = 0.62). However, women with a BRCA1 mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women (OR = 0.62; 95% CI = 0.41-0.94). In contrast, among BRCA2 carriers, increasing parity was associated with an increased risk of breast cancer; women with 2 or more children were at approximately 1.5 times the risk of breast cancer as nulliparous women (OR = 1.53; 95% CI = 1.01-2.32; p = 0.05). Among women with BRCA2 mutations and who were younger than age 50, the (adjusted) risk of breast cancer increased by 17% with each additional birth (OR = 1.17; 95% CI = 1.01-1.36; p = 0.03). There was no significant increase in the risk of breast cancer among BRCA2 carriers older than 50 (OR for each additional birth = 0.97; 95% CI = 0.58-1.53; p = 0.92). In the 2-year period following a birth, the risk of breast cancer in a BRCA2 carrier was increased by 70% compared to nulliparous controls (OR = 1.70; 95% CI = 0.97-3.0). There was a much smaller increase in breast cancer risk among BRCA2 carriers whose last birth was 5 or more years in the past (OR = 1.24; 95% CI = 0.79-1.95). A modest reduction in risk of breast cancer was observed among BRCA1 carriers with 4 or more births. Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy.


Asunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación , Complicaciones del Embarazo , Adolescente , Adulto , Factores de Edad , Anciano , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Humanos , Modelos Logísticos , Persona de Mediana Edad , Oportunidad Relativa , Paridad , Embarazo , Sistema de Registros , Factores de Riesgo , Factores de Tiempo
15.
Cancer Pract ; 10 Suppl 1: S21-6, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12027965

RESUMEN

PURPOSE: Pain syndromes resulting from recurrent or metastatic cancer require careful evaluation to determine the cause of the pain and the appropriate and judicious use of antitumor treatment. The choice of therapy must integrate the type of pain, its function, the overall disease burden of the patient, and psychological aspects of the cancer. As a general rule, opioid analgesics are the mainstay of treatment in patients with cancer-related pain. When pharmacologic pain control is insufficient or is associated with intolerable side effects, the surgical management of pain can be considered. OVERVIEW: In this article, we review the options, indications, and side effects of the interventional and surgical methods available for the treatment of cancer-related pain. CLINICAL IMPLICATIONS: Planning surgical treatment for cancer-related pain after a patient's lack of response to therapy with opioid analgesics requires an understanding of sensory innervation as well as a realistic expectation of survival, anesthetic risk, or possibility of incomplete pain relief. As such, surgical interventions must be tailored to the individual patient. Clinicians should keep in mind the surgical alternatives for the effective control of pain when it becomes apparent that medical therapy is ineffective.


Asunto(s)
Neoplasias/complicaciones , Dolor/cirugía , Humanos , Dolor/etiología
16.
Cancer ; 98(5): 1061-71, 2003 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-12942576

RESUMEN

BACKGROUND: This report offers a unique analysis of the psychological distress associated with ovarian cancer in a review of natural correspondence between ovarian cancer survivors and an ovarian cancer newsletter. METHODS: A review of 21,806 letters, cards, and e-mails reflecting correspondence from January 1994 to December 2000 between ovarian cancer survivors and the founding editor of Conversations!: The International Newsletter for those Fighting Ovarian Cancer was performed using ethnographic qualitative research methods. Statements related to the impact of disease were bracketed and coded within physical, psychological, social, and spiritual domains according to the City of Hope Quality of Life Ovarian Cancer instrument. Statements that reflected psychological well being were then evaluated with respect to the disease trajectory (i.e., diagnosis, treatment, remission, recurrence, and advanced disease/end of life). RESULTS: A total of 1282 communications were identified that pertained to psychological well being. Findings based on major themes derived from the analysis included descriptions of stressors associated with disease status. Significant stressors were identified within all phases of diagnosis, treatment, remission, and recurrence. Women described both positive and negative effects of disease and frequently demonstrated resourcefulness and perseverance by sharing coping mechanisms and survival strategies. CONCLUSIONS: The natural correspondence from women with ovarian cancer provided a rare opportunity to capture the psychological concerns of women throughout all stages of the cancer trajectory. Health care professionals' awareness of the common psychological stressors throughout the ovarian cancer trajectory may allow them to identify more readily the needs for support, leading to improvement in overall quality of life.


Asunto(s)
Salud Mental , Neoplasias Ováricas/psicología , Calidad de Vida , Sobrevivientes/psicología , Adaptación Psicológica , Antropología Cultural , Femenino , Encuestas Epidemiológicas , Humanos , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/terapia , Estrés Psicológico , Escritura
17.
Ann Surg Oncol ; 10(2): 144-9, 2003 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-12620909

RESUMEN

BACKGROUND: Liver metastasis from colorectal cancer remains an oncological challenge. Hepatic chemotherapy has been used; however, rigorous quality of life (QOL) measurements are lacking. The aim of this study was to describe unique QOL issues to formulate a specific tool for this population. METHODS: A purposive sample was identified of patients treated with intrahepatic chemotherapy. Consenting patients completed a demographic tool and the City of Hope QOL Scale/Cancer Patient survey. An in-depth interview on QOL concerns was conducted, taped, and transcribed verbatim. The data from the interviews were coded to identify recurrent themes. RESULTS: Sixteen patients participated. Physical well-being was maintained. Significantly lower subscale scores were noted for psychological, social, and spiritual domains compared with nonpatient norms (City of Hope volunteers; n = 169). Patients found intrahepatic chemotherapy convenient but were unable to pursue vigorous activity, and their sleep habits changed. Psychologically, patients felt reassured to receive specific therapy to their liver. CONCLUSIONS: Pilot evaluation of QOL in this population revealed changes in physical, psychological, social, and spiritual dimensions. Both disease- and treatment-specific concerns were identified, and the results provide evidence for items to include in a QOL questionnaire specific to this population.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Colorrectales/patología , Neoplasias Hepáticas/tratamiento farmacológico , Neoplasias Hepáticas/psicología , Neoplasias Hepáticas/secundario , Calidad de Vida , Adulto , Anciano , Femenino , Fluorouracilo/administración & dosificación , Arteria Hepática , Humanos , Leucovorina/administración & dosificación , Masculino , Persona de Mediana Edad , Vena Porta
18.
Oncol Nurs Forum ; 30(6): E106-14, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14603362

RESUMEN

PURPOSE/OBJECTIVES: To describe a program of research related to outcomes of palliative surgery and focus on one phase of this research involving decision making by patients and surgeons considering surgery for advanced disease. DESIGN: Descriptive. SAMPLE: 10 patients undergoing surgery and 3 oncology surgeons. METHODS: Qualitative interviews were conducted with patients and their surgeons pre- and postoperatively. Transcripts were content analyzed to identify major themes in patient and surgeon interviews based on study questions. MAIN RESEARCH VARIABLES: Decision making, palliative surgery, quality of life. FINDINGS: The study findings highlight the issues of greatest concern to patients and surgeons considering palliative surgery. This phase was an important component of the overall program of palliative surgery research. CONCLUSIONS: Comprehensive care for patients with advanced cancer seeks to achieve a balance of providing aggressive care, ensuring optimum symptom management, and maintaining a focus on comfort. Further study of palliative surgery as an aspect of interdisciplinary care is warranted. IMPLICATIONS FOR NURSING: Patients undergoing surgery for advanced disease require expert nursing care to address quality-of-life concerns. Further research is needed in this area.


Asunto(s)
Toma de Decisiones , Neoplasias/cirugía , Cuidados Paliativos , Adulto , Anciano , Femenino , Humanos , Entrevistas como Asunto , Masculino , Oncología Médica , Persona de Mediana Edad , Neoplasias/enfermería , Neoplasias/patología , Participación del Paciente , Pacientes/psicología , Médicos/psicología , Calidad de Vida , Especialidades Quirúrgicas
19.
Cancer ; 98(10): 2266-73, 2003 Nov 15.
Artículo en Inglés | MEDLINE | ID: mdl-14601098

RESUMEN

BACKGROUND: Costs associated with the provision of medical care continue to escalate. Therefore, providers must evaluate the cost-effectiveness and benefit to individual healthcare practices. The authors evaluated the immediate and short-term resource utilization needs of patients undergoing surgical intervention with curative or palliative intent. METHODS: Three hundred two patients undergoing surgery with therapeutic intent were observed from the time of admission for intervention until the time of death or until 6 months from the time of the surgical procedure. Surgeons preoperatively identified each case as either curative or palliative in intent. Demographic information, as well as the nature of all interactions with the cancer center, was recorded. RESULTS: Surgeons identified 58 (19%) procedures as palliative and 244 (81%) as curative in intent. Demographic characteristics between the two groups were similar, although recurrent or metastatic disease was more often present in palliative rather than curative patients (P = 0.0078) and palliative intent patients were more likely to have received previous therapy. During the 6-month period, 4690 encounters occurred with the cancer center. The mean number of encounters per patient in each group was similar, although curative intent patients were more likely to have visits with therapeutic intent including chemotherapy administration (P = 0.01), radiation (P = 0.003), or repeat surgical procedures (P = 0.006). In contrast, palliative patients were more likely to be admitted for management of symptoms (P = 0.0001) and had fewer hospital-free days than did curative patients (P = 0.0069). CONCLUSIONS: The average number of encounters for patients undergoing treatment of disease was not significantly different, suggesting that patients undergoing surgery with palliative intent do not require a greater amount of resources than curative intent patients. The nature of the interactions, however, was different, suggesting that resource needs are different and may need to be anticipated in the assessment of how better quality outcomes can be achieved in the palliative surgery setting.


Asunto(s)
Costos de la Atención en Salud/estadística & datos numéricos , Servicios de Salud/estadística & datos numéricos , Neoplasias/economía , Neoplasias/cirugía , Cuidados Paliativos , Procedimientos Quirúrgicos Operativos/economía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Demografía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad
20.
Ann Surg Oncol ; 10(6): 654-63, 2003 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-12839850

RESUMEN

BACKGROUND: We prospectively evaluated the effectiveness of major surgery in treating symptoms of advanced malignancies. METHODS: Fifty-nine patients were evaluated for major symptoms of intent to treat and were followed up until death or last clinical evaluation. Surgeons identified planned operations before surgery as either curative or palliative and estimated patient survival time. An independent observer assessed symptom relief. A palliative surgery outcome score was determined for each symptomatic patient. RESULTS: Surgeons identified 22 operations (37%) as palliative intent and 37 (63%) as curative intent. The median overall survival time was 14.9 months and did not differ between curative and palliative operations. Surgical morbidity was high but did not differ between palliative (41%) and curative (44%) operations. Thirty-three patients (56%) were symptomatic before surgery, and major symptom resolution was achieved after surgery in 26 (79%) of 33. Good to excellent palliation, defined as a palliative surgery outcome score >70, was achieved in 64% of symptomatic patients. CONCLUSIONS: Most symptomatic patients with advanced malignancies undergoing major operations attained good to excellent symptom relief. Outcome measurements other than survival are feasible and can better define the role of surgery in multimodality palliative care. A new outcome measure to evaluate major palliative operations is proposed.


Asunto(s)
Neoplasias/cirugía , Cuidados Paliativos , Calidad de Vida , Adulto , Anciano , Anciano de 80 o más Años , Terapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Morbilidad , Pronóstico , Estudios Prospectivos , Análisis de Supervivencia , Resultado del Tratamiento
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