Raising awareness of the number of patients with multiple primary melanoma and a positive family history of melanoma

2015 ◽  
Vol 72 (5) ◽  
pp. AB92
Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1289
Author(s):  
Maisa Pinheiro ◽  
Fernanda Cristina Sulla Lupinacci ◽  
Karina Miranda Santiago ◽  
Sandra Aparecida Drigo ◽  
Fabio Albuquerque Marchi ◽  
...  

Multiple primary thyroid cancer (TC) and breast cancer (BC) are commonly diagnosed, and the lifetime risk for these cancers is increased in patients with a positive family history of both TC and BC. Although this phenotype is partially explained by TP53 or PTEN mutations, a significant number of patients are negative for these alterations. We judiciously recruited patients diagnosed with BC and/or TC having a family history of these tumors and assessed their whole-exome sequencing. After variant prioritization, we selected MUS81 c.1292G>A (p.R431H) for further investigation. This variant was genotyped in a healthy population and sporadic BC/TC tissues and investigated at the protein level and cellular models. MUS81 c.1292G>A was the most frequent variant (25%) and the strongest candidate due to its function of double-strand break repair. This variant was confirmed in four relatives from two families. MUS81 p.R431H protein exhibited lower expression levels in tumors from patients positive for the germline variant, compared with wild-type BC, and normal breast and thyroid tissues. Using cell line models, we showed that c.1292G>A induced protein instability and affected DNA damage response. We suggest that MUS81 is a novel candidate involved in familial BC/TC based on its low frequency in healthy individuals and proven effect in protein stability.


Rheumatology ◽  
2021 ◽  
Vol 60 (Supplement_1) ◽  
Author(s):  
Neil T Morton ◽  
Zoe Rutter-Locher ◽  
Maumar Durrani ◽  
Shirish Sangle ◽  
Nick Wilkinson ◽  
...  

Abstract Background/Aims  Childhood-onset SLE (cSLE) was once associated with significant mortality but 5-year survival rates have now improved significantly. We retrospectively compared the clinical features and outcomes of cSLE patients with an adult-onset SLE (aSLE) group. Methods  We retrospectively studied data from 30 patients from our cSLE patients (onset before age 16) compared with 65 aSLE randomly selected in a 2:1 ratio, from our Lupus clinic patients fulfilling the 1997 ACR SLE criteria. Data regarding ethnicity, age of onset, family history, serology, complications, medications and outcomes were recorded. Results  Of cSLE patients 24 were female and 6 male (F:M ratio 4:1), with 16 patients (53%) Afro-Caribbean, 8 Caucasian, 5 Asian and 1 of mixed ethnicity. In the aSLE group, 60 patients were female and 5 male (ratio 9:1), with 29 (44%) Afro-Caribbean, 13 Asian, 21 Caucasian and 2 of mixed ethnicity. Median age at disease onset was 14 years (10-16) in cSLE and 29 years (17-50) in aSLE. A positive family history of SLE was seen in 37% (11/30) of cSLE patients compared to 11% (7/65) of aSLE [p = 0.003]. There was no difference in family history of other autoimmune rheumatic diseases (10% vs 14% [p = 0.57]). Table 1 shows frequency of different autoantibodies, with anti-dsDNA and anti-cardiolipin antibodies significantly more frequent in the cSLE group [p = 0.017, p = 0.016 respectively]. Lupus nephritis appears to be more common in cSLE but not significantly (80% renal involvement vs 69% aSLE).There was no difference between involvement of chest, haematological, VTE or APS. Standard of care treatment was used in both groups, including oral prednisolone (>80% patients), anti-malarial and immunosuppressive medications. Renal flares were significantly more frequent in cSLE (23% vs 8%, [p = 0.027]). Of those deceased, only 1 was directly due to SLE. P161 Table 1:Serological markercSLE (n = 30)aSLE (n = 65)Number of patients%Number of patients%ANA2790%6498%dsDNA23*77%33*51%ENA1447%3655%RNP827%2335%Anti-Ro1033%2132%Anti-Sm827%1218%C1Q14**64%19**63%ACL17*57%20*31%LAC930%1828%RF517%69%Comparison of serological markers.*p < 0.05 (Chi-square used).**10 patients’ data missing. Conclusion  More cSLE patients had a positive SLE family history and had higher anti-dsDNA antibody positivity compared to aSLE. Renal involvement was observed more commonly in cSLE than aSLE patients but was not statistically significant. Our results suggest that the cSLE cohort have a higher prevalence of specific lupus serology and a positive family history of SLE which may point towards more aggressive disease. Disclosure  N.T. Morton: None. Z. Rutter-Locher: None. M. Durrani: None. S. Sangle: None. N. Wilkinson: None. D. D'Cruz: None.


2012 ◽  
Vol 19 (01) ◽  
pp. 040-045
Author(s):  
SARAH SAEED ◽  
MOHAMMAD AKRAM

Background: Epithelial ovarian cancer is the most common cancer of gynaecologic origin in Pakistani women. It ranks amongthe ten most common cancers in our women. Despite being commonly encountered, information regarding the clinicopathological features islacking. Objective: To study the clinical and pathological features of epithelial ovarian cancer in our patients. Study Design: Retrospective study.Setting: Department of Medical Oncology, Jinnah Hospital Lahore. Period: Jan 01,2001 to Dec 31, 2002. Patients and methods: All patientswith histological or cytological diagnosis of epithelial ovarian cancer regardless of stage were included in the study. Information was obtainedfrom medical records which were reviewed thoroughly. Blood samples for analysis of BRCA mutations were sent to University of Toronto,Sunnybrook & Women’s College Health Sciences Centre, Toronto, Canada. Results: 75 patients were accrued. Mean age of the patients was47 years. The well defined risk factors such as nulliparity, lack of lactation, early menarche and late menopause were not present in the majorityof our patients. One striking feature was the number of patients with family history of cancer (18.7%). Majority were first degree relatives of thepatients and most had ovarian or breast cancer. BRCA1 and BRCA2 were seen in nine (12%) of the patients. Clinical presentation and histologicfeatures were similar to American and European patients, the only difference was that a large number (88%) of our patients presented withadvanced (stage III or IV) disease. Conclusions: Epithelial ovarian cancer manifests itself in a younger population of our women. Higherfrequency of positive family history was another striking feature of Pakistani patients.


2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e22107-e22107
Author(s):  
Lilit Karapetyan ◽  
Xi Yang ◽  
Hong Wang ◽  
Arivarasan Karunamurthy ◽  
Cindy Sander ◽  
...  

e22107 Background: Patients with primary cutaneous melanoma are at increased risk of subsequent new primary melanoma. Indoor tanning is a risk factor for melanoma. The primary objective of this study was to determine the association between indoor tanning and multiple primary melanoma (MPM). The secondary objective was to compare clinical and pathological characteristics of primary and secondary malignant melanoma. Methods: This retrospective case-control study of MPM and gender-matched controls with single primary melanoma retrieved at 2:1 ratio from the University of Pittsburgh Cancer Institute Melanoma Center Biological Sample and Nevus Bank from January 1996 through October 2019. Logistic regression models were used to examine the association between MPM and risk factors. Results: In total, 330 patients (39.1% men; median [SD] age, 51 [15] years) were enrolled, including 110 with single and 220 with MPM. Median time between diagnosis of first and second primary melanoma was 13 months. 22.7% of patients with MPM had 3 or more primary melanomas. Compared with patients who had a single primary melanoma, patients with multiple melanomas were younger at diagnosis of first melanoma (median age 46 vs 52, p = 0.006), more likely to be discovered at Stage 0 and 1 (68% vs 49%, p < 0.0001), and to have had indoor tanning exposure (34% vs 10%, p < 0.0001), family history of melanoma (18% vs 8%, p = 0.0045), atypical moles (37% vs 13%, p < 0.0001), dysplastic nevi (21% vs 5%, p < 0.0001), and Breslow thickness of less than 1 mm (61% vs 33%, p < 0.0001). Compared with the patient’s first melanoma, subsequent melanomas were more likely to be thinner (0.6mm vs 1.2mm, p = 0.0007) or in situ (24% vs 13%, p = 0.0004). The estimated probability of locus that was the same for first and second primary melanomas was 34% with (95% CI 25%, 44%). The most common location for second primary melanoma was upper extremity (34%). In univariate analysis, lifetime tanning bed exposure of > 10 sessions was associated with an increased risk of second primary melanoma OR 4.60 [95% CI, 2.52-8.42, p < 0.0001]. In multivariate analysis after adjusting for age, family history of melanoma, presence of atypical and dysplastic nevi, recreational sun exposure, indoor tanning remained significantly associated with MPM (OR 4.32 [95% CI, 1.54-12.15, p = 0.0026]). Conclusions: Indoor tanning for > 10 sessions is associated with increased risk of second primary melanoma. Subsequent melanomas are more likely to be thin or in situ, and to occur in different anatomic locations.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meng Wang ◽  
Wei-Wei Gong ◽  
Feng Lu ◽  
Ru-Ying Hu ◽  
Qing-Fang He ◽  
...  

Abstract Background Previous studies have indicated inconsistent relationships of diabetes with thyroid cancer risk, yet little is known in China. In this study, we aimed to investigate the associations between diabetes, diabetes duration and the risk of thyroid cancer in Chinese population. Methods A 1:1 matched case-control study was performed between 2015 and 2017 in Zhejiang Province including 2,937 thyroid cancer cases and 2,937 healthy controls. Odds ratios (ORs) with 95 % confidence intervals (CIs) for thyroid cancer were estimated in logistic regression models. Specific effects stratified by age, as well as sex, body mass index (BMI) and family history of diabetes were also examined. Results Overall, neither diabetes (OR = 0.75, 95 % CI: 0.21–2.73) nor diabetes duration (OR = 0.14, 95 % CI: 0.02–1.22 for diabetes duration ≦ 5 years; OR = 2.10, 95 % CI: 0.32–13.94 for diabetes duration > 5 years) was significantly associated with thyroid cancer. In stratified analyses, significant lower risk of thyroid cancer was observed among subjects with diabetes and shorter diabetes duration ( ≦ 5 years), but limited to those who were aged more than 40 years, female, overweight/obese and had positive family history of diabetes. Conclusions Diabetes and shorter diabetes duration were significantly associated with decreased risk of thyroid cancer in individuals characterized by older age, female sex, higher BMI and positive family history of diabetes.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Uzair Abbas ◽  
Bushra Imdad ◽  
Sikander Adil Mughal ◽  
Israr Ahmed Baloch ◽  
Afshan Mehboob Khan ◽  
...  

Abstract Objective MicroRNAs are known to regulate 60% of genes at post translational level. MicroRNAs including Micro RNA-29 family play a vital role in cellular activities and have validate role in numerous metabolic disorders inclusive of diabetes mellitus and its complications. While micro RNA profile changes years before the occurrence of disease. This cross-sectional study was conducted in non-diabetic adults of diabetic and non-diabetic parents to explore the early changes in expression of micro RNA-29 family as it can be served as early biomarker of type 2 diabetes in non-diabetic adults. This study was conducted from January 2019 to January 2021. Micro RNA was extracted from plasma of 50 participants and expression was compared through qPCR. While data was analyzed through SPSS version 21.0. Results 29a and 29b had lower expression in participants with family history of DM compared to those having no family history of DM (P < 0.0001). While micro RNA 29c was found to be significantly higher in participants with positive family history of type 2 diabetes as compared to those without family history of diabetes (P = 0.001).


1998 ◽  
Vol 43 (4) ◽  
pp. 375-380 ◽  
Author(s):  
Mary Jane Esplen ◽  
Brenda Toner ◽  
Jonathan Hunter ◽  
Gordon Glendon ◽  
Kate Butler ◽  
...  

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.


1997 ◽  
Vol 12 (3) ◽  
pp. 149-151 ◽  
Author(s):  
D Sarantidis ◽  
A Thomas ◽  
K Iphantis ◽  
N Katsaros ◽  
J Tripodianakis ◽  
...  

SummaryIn this study we investigated 1) the changes in anxiety, depression and denial from admission to discharge in patients admitted to the intensive care unit following an acute myocardial infarction and 2) the effect of smoking habits, time lapsed from the appearance of symptoms to seeking help behavior, presence of a person that motivated the patient to seek help, previous myocardial infarction (MI) and family history of MI, on these changes. The results indicated that 1) the levels of both anxiety and depression increased from admission to discharge, while denial decreased; 2) positive family history of MI was associated with lower difference of denial between admission and discharge.


1984 ◽  
Vol 66 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Ottar Gudmundsson ◽  
Hans Herlitz ◽  
Olof Jonsson ◽  
Thomas Hedner ◽  
Ove Andersson ◽  
...  

1. During 4 weeks 37 normotensive 50-year-old men identified by screening in a random population sample were given 12 g of NaCl daily, in addition to their usual dietary sodium intake. Blood pressure, heart rate, weight, urinary excretion of sodium, potassium and catecholamines, plasma aldosterone and noradrenaline and intra-erythrocyte sodium content were determined on normal and increased salt intake. The subjects were divided into those with a positive family history of hypertension (n = 11) and those without such a history (n = 26). 2. Systolic blood pressure and weight increased significantly irrespective of a positive family history of hypertension. 3. On normal salt intake intra-erythrocyte sodium content was significantly higher in those with a positive family history of hypertension. During high salt intake intra-erythrocyte sodium content decreased significantly in that group and the difference between the hereditary subgroups was no longer significant. 4. In the whole group urinary excretion of noradrenaline, adrenaline and dopamine increased whereas plasma aldosterone decreased during the increased salt intake. 5. Thus, in contrast to some earlier studies performed in young subjects, our results indicate that moderately increased sodium intake acts as a pressor agent in normotensive middle-aged men whether there was a positive family history of hypertension or not. We confirm that men with positive family history of hypertension have an increased intra-erythrocyte sodium content, and that an increase in salt intake seems to increase overall sympathetic activity.


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