A Group Therapy Approach to Facilitate Integration of Risk Information for Women at Risk for Breast Cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Group Therapy ◽  
Perceived Risk ◽  
Positive Family History ◽  
Risk Information ◽  
Degree Relative ◽  
Therapy Approach ◽  
History Of

Objective: To describe and illustrate elements of a group counselling approach designed to enhance the communication of risk information on breast cancer (BC) to women with a family history of this disease. Breast cancer is a leading cause of female cancer death. The most important risk factor for BC is a positive family history in at least 1 first-degree relative, and approximately one-third of women with BC have a family history of the disease. Recent evidence suggests that there is a significant psychological impact associated with having a family history of BC, and this may influence the psychological adjustment and response to being counselled for personal risk. New counselling approaches are required. Method: This paper describes a group therapy approach that incorporates principles of supportive-expressive therapy designed to address the emotional impact of being at risk for BC and to promote accuracy of perceived risk. The key elements of the intervention are described along with clinical illustrations from groups that are part of an ongoing study to develop and standardize the group therapy. Conclusion: Qualitative data from the groups suggest that this model of therapy is both feasible and effective.

Risk of Breast Cancer in Women With a CHEK2 Mutation With and Without a Family History of Breast Cancer

2011 ◽  
Vol 29 (28) ◽  
pp. 3747-3752 ◽  
Author(s):  
Cezary Cybulski ◽  
Dominika Wokołorczyk ◽  
Anna Jakubowska ◽  
Tomasz Huzarski ◽  
Tomasz Byrski ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Mutation Screening ◽  
Positive Family History ◽  
Baseline Risk ◽  
Degree Relative ◽  
Chek2 Mutation ◽  
Truncating Mutation ◽  
History Of ◽  
Second Degree

Purpose To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer. Patients and Methods Seven thousand four hundred ninety-four BRCA1 mutation–negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G>A, 1100delC, and I157T). Results A truncating mutation (IVS2+1G>A, 1100delC, or del5395) was present in 227 patients (3.0%) and in 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR was higher for women with a first- or second-degree relative with breast cancer (OR, 5.0; 95% CI, 3.3 to 7.6) than for women with no family history (OR, 3.3; 95% CI, 2.3 to 4.7). If both a first- and second-degree relative were affected with breast cancer, the OR was 7.3 (95% CI, 3.2 to 16.8). Assuming a baseline risk of 6%, we estimate the lifetime risks for carriers of CHEK2 truncating mutations to be 20% for a woman with no affected relative, 28% for a woman with one second-degree relative affected, 34% for a woman with one first-degree relative affected, and 44% for a woman with both a first- and second-degree relative affected. Conclusion CHEK2 mutation screening detects a clinically meaningful risk of breast cancer and should be considered in all women with a family history of breast cancer. Women with a truncating mutation in CHEK2 and a positive family history of breast cancer have a lifetime risk of breast cancer of greater than 25% and are candidates for magnetic resonance imaging screening and for tamoxifen chemoprevention.

Family history of prostate cancer in patients with localized prostate cancer: an independent predictor of treatment outcome.

1997 ◽  
Vol 15 (4) ◽  
pp. 1478-1480 ◽  
Author(s):  
P A Kupelian ◽  
V A Kupelian ◽  
J S Witte ◽  
R Macklis ◽  
E A Klein
Keyword(s):  
Prostate Cancer ◽  
Treatment Outcome ◽  
Family History ◽  
Treatment Modality ◽  
Proportional Hazards ◽  
Positive Family History ◽  
Specific Antigen ◽  
Tumor Stage ◽  
Degree Relative ◽  
History Of

PURPOSE To determine if familial prostate cancer patients have a less favorable prognosis than patients with sporadic prostate cancer after treatment for localized disease with either radiotherapy (RT) or radical prostatectomy (RP). PATIENTS AND METHODS One thousand thirty-eight patients treated with either RT (n = 583) or RP (n = 455) were included in this analysis. These patients were noted as having a positive family history if they confirmed the diagnosis of prostate cancer in a first-degree relative. The outcome of interest was biochemical relapse-free survival (bRFS). We used proportional hazards to analyze the effect of the presence of family history and other potential confounding variables (ie, age, treatment modality, stage, biopsy Gleason sum [GS], and initial prostate-specific antigen [iPSA] levels) on treatment outcome. RESULTS Eleven percent of all patients had a positive family history. The 5-year bRFS rates for patients with negative and positive family histories were 52% and 29%, respectively (P < .001). The potential confounders with bRFS rates were iPSA levels, biopsy GS, and clinical tumor stage; treatment modality and age did not appear to be associated with outcome. After adjusting for potential confounders, family history of prostate cancer remained strongly associated with biochemical failure. CONCLUSION This is the first study to demonstrate that the presence of a family history of prostate cancer correlates with treatment outcome in a large unselected series of patients. Our findings suggest that familial prostate cancer may have a more aggressive course than nonfamilial prostate cancer, and that clinical and/or pathologic parameters may not adequately predict this course.

Development of a questionnaire to identify persons with a family history of aneurysmal subarachnoid hemorrhage

2022 ◽  
pp. 174749302110690
Author(s):  
Charlotte CM Zuurbier ◽  
Jacoba P Greving ◽  
Gabriel JE Rinkel ◽  
Ynte M Ruigrok
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Family History ◽  
Aneurysmal Subarachnoid Hemorrhage ◽  
Positive Family History ◽  
Stroke Patients ◽  
Degree Relative ◽  
First Degree Relatives ◽  
Family History Questionnaire ◽  
Affected Relative ◽  
History Of

Background: Preventive screening for intracranial aneurysms is effective in persons with a positive family history of aneurysmal subarachnoid hemorrhage (aSAH), but for many relatives of aSAH patients, it can be difficult to assess whether their relative had an aSAH or another type of stroke. Aim: We aimed to develop a family history questionnaire for people in the population who believe they have a first-degree relative who had a stroke and to assess its accuracy to identify relatives of aSAH patients. Methods: A questionnaire to distinguish between aSAH and other stroke types (ischemic stroke and intracerebral hemorrhage) was developed by a team of clinicians and consumers. The level of agreement between the questionnaire outcome and medical diagnosis was pilot tested in 30 previously admitted aSAH patients. Next, the sensitivity and specificity of the questionnaire were assessed in 91 first-degree relatives (siblings/children) of previously admitted stroke patients. Results: All 30 aSAH patients were identified by the questionnaire in the pilot study; 29 of 30 first-degree relatives of aSAH patients were correctly identified. The questionnaire had a sensitivity of 97% (95% confidence interval (CI) = 83–100%) and a specificity of 93% (95% CI = 84–98%) when tested in the first-degree relatives of stroke patients. Conclusion: Our questionnaire can help persons to discriminate an aSAH from other types of stroke in their affected relative. This family history questionnaire is developed in the Netherlands but could also be used in other countries after validation.

scholarly journals Male Breast Cancer: Surgical and Genetic Features and a Multidisciplinary Management Strategy

Breast Care ◽  
2019 ◽  
Vol 15 (1) ◽  
pp. 14-21 ◽  
Author(s):  
Francesca Pellini ◽  
Eleonora Granuzzo ◽  
Silvia Urbani ◽  
Sara Mirandola ◽  
Marina Caldana ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Male Breast Cancer ◽  
Brca2 Mutation ◽  
Positive Family History ◽  
Male Breast ◽  
Mutation Carriers ◽  
History Of ◽  
Clinical Records

Background: Male breast cancer (MBC) is a rare disease with a rising incidence trend. The major risk factors related to MBC are a positive family history of breast cancer (BC) and BRCA1/2 mutations, which indicate a relevant genetic role. Methods: In this retrospective series, we enrolled 69 male patients presenting with male breast cancer (MBC) between 01/01/1992 and 31/12/2018, and 26 high-risk not-affected men presenting between 01/01/2016 and 31/12/2018. Participants’ electronic clinical records were reviewed. Patients’ data reported age at diagnosis, tumor characteristics, therapeutic management, and BRCA1/2 status as well as a family history of breast, ovarian, or prostate cancer (PCa) in first-degree relatives. Results: We analyzed 69 MBC patients. Median age was 64 years. The majority of tumors diagnosed were of an early TNM stage. The most frequent histological subtype was invasive ductal carcinoma (76.7%). Hormone receptors were positive in >90% of MBC cases. Nearly all patients underwent modified radical mastectomy or total mastectomy. Adjuvant endocrine therapy was delivered in 59.4%. Among MBC-affected patients, we recorded a high percentage of a positive family history of BC. Mutational analysis for the BRCA1/2 genes was performed in 17 MBC patients; 11.8% were carriers of BRCA2 pathogenic mutations. Among 26 healthy high-risk subjects included in this case series, 4 were BRCA1 mutation carriers and 9 were BRCA2 mutation carriers. Discussion: We evaluated the distribution of clinicopathological characteristics in MBC subjects and assessed the frequency of mutations in the BRCA genes in affected patients and healthy high-risk subjects, with the aim of proposing a surveillance program for BC and PCa.

A retrospective study on breast cancer presentation, risk factors, and protective factors in patients with a positive family history of breast cancer

2020 ◽  
Vol 26 (3) ◽  
pp. 469-473
Author(s):  
Ying Yi Liaw ◽  
Foong Shiang Loong ◽  
Suzanne Tan ◽  
Sze Yun On ◽  
Evelyn Khaw ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Retrospective Study ◽  
Family History ◽  
Protective Factors ◽  
Positive Family History ◽  
History Of

P96 Screening for cerebrovascular pathology on the basis of positive family history in the paediatric population

2019 ◽  
Vol 90 (3) ◽  
pp. e47.3-e47
Author(s):  
CP Millward ◽  
LV Tonder ◽  
M Foster ◽  
D Williams ◽  
M Griffiths ◽  
...  
Keyword(s):  
Family History ◽  
Positive Family History ◽  
Haemorrhagic Stroke ◽  
Paediatric Population ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Degree Relative ◽  
Screening Process ◽  
Screening Practice ◽  
History Of ◽  
Patient Concerns

ObjectivesNeurovascular disorders are uncommon, complex conditions in children. We reviewed the screening practice and outcome of children referred to the neurovascular service on the basis of positive family history.DesignRetrospective review of prospectively maintained database.SubjectsChildren referred to the neurovascular service on the basis of family history, for screening at our hospital.MethodsWe retrospectively examined our database between July 2008 and April 2018 for the reasons for referral, family history, investigations performed, and the outcome of the screening process.Results44 children were reviewed (23 male, median age 10). Thirty-one children had an MRI/MRA brain. One child subsequently had uncomplicated digital subtraction angiography. Thirty children were referred due to a family history of subarachnoid haemorrhage, of which 17 had a single first-degree relative, and two had two first-degree relatives. Nine children were referred with a family history of arteriovenous malformation, (2 were associated with hereditary haemorrhagic telangiectasia). Five children were discussed due to a family history of non-specific haemorrhagic stroke. Seven children had a history of headache, (4 were prescribed Pizotifen for migraine). No neurovascular pathology was detected following screening within our cohort.ConclusionsA consensus screening policy does not exist but is required both to guide clinical practice and to assuage parental or patient concerns. We will survey UK paediatric centres to commence this process.

scholarly journals The impact of information given to patients’ families: Breast cancer risk notification

2012 ◽  
Vol 20 (1) ◽  
pp. 27-34
Author(s):  
Estrella Durá Ferrandis ◽  
Yolanda Andreu ◽  
Maria José Galdón
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Family History ◽  
Health Beliefs ◽  
Close Relative ◽  
Screening Methods ◽  
First Degree Relatives ◽  
Preventive Practices ◽  
History Of ◽  
The Impact

A family history of breast cancer is a clear risk for developing the disease. Therefore, when a woman is diagnosed with breast cancer all her female first degree relatives become population at risk. This involve a number of important aspects to be taken into account by psychooncology professionals. (a) First, in addition to the stress associated with the diagnosis and treatment of breast cancer in a close relative, first degree relatives of breast cancer patients have the added stress of learning that they are at risk of this disease. (b) Second, these women become the main target of secondary breast cancer prevention strategies. However, various reports show that a considerable percentage of these women do not follow the recommended screening methods. For this reason, it is necessary to study the possible contribution of psychosocial factors, specially health beliefs, in the practice of preventive behavior aimed at preventing breast cancer in this population, and to design strategies to promote preventive practices. (c) Most of the research on health beliefs among women at risk for breat cancer has focused on risk perception.This research as found that some women with a family history of breast cancer have significantly overestimated their risk, while other shave underestimated their risk. The need to provide risk counselling schemes for these women is therefore proposed, in order to estimate and advise them of their real risk. (d) Finally, these women may request genetic testing to determine whether they carry genetic mutations (BRCA1, BRCA2, or others) that cause some types of breast cancer. However, it must be remembered that, although many first degree relatives will have heard of and seek «the cancer gene test», currently testing is appropiate and available only for rare individuals. All these issues are reviewed in the present paper.

scholarly journals Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Abdul Khalid Siraj ◽  
Tariq Masoodi ◽  
Rong Bu ◽  
Sandeep Kumar Parvathareddy ◽  
Kaleem Iqbal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Middle Eastern ◽  
Mutation Screening ◽  
Univariate Analysis ◽  
Positive Family History ◽  
Germline Mutations ◽  
Pathogenic Mutations ◽  
History Of

Abstract Background The data on prevalence and clinical relevance of TP53 germline mutations in early onset Middle-Eastern breast cancer (BC) is limited. Methods We determined TP53 germline mutations in a cohort of 464 early onset BC patients from Saudi Arabia using capture sequencing based next generation sequencing. Results Germline TP53 pathogenic mutations were found in 1.5% (7/464) of early onset Saudi BC patients. A total of six pathogenic missense mutations, one stop gain mutation and two variants of uncertain significance (VUS) were detected in our cohort. No TP53 pathogenic mutations were detected among 463 healthy controls. TP53 mutations carriers were significantly more likely to have bilateral breast cancer (p = 0.0008). At median follow-up of 41 months, TP53 mutations were an unfavorable factor for overall survival in univariate analysis. All the patients carrying TP53 mutations were negative for BRCA1 and BRCA2 mutations. Majority of patients (85.7%; 6/7) carrying TP53 mutation had no family history suggestive of Li-Fraumeni Syndrome (LFS) or personal history of multiple LFS related tumors. Only one patient had a positive family history suggestive of LFS. Conclusions TP53 germline mutation screening detects a clinically meaningful risk of early onset BC from this ethnicity and should be considered in all early onset BC regardless of the family history of cancer, especially in young patients that are negative for BRCA mutations.

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