Case report of a 27-year-old male with DCIS

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e11635-e11635
Author(s):  
C. Hamm ◽  
C. Coroneos
Keyword(s):  
Family History ◽  
Ductal Carcinoma ◽  
Young Male ◽  
Strong Family History ◽  
Brca1 And Brca2 ◽  
Young Males ◽  
History Of ◽  
Male Patients ◽  
History Of Cancer

e11635 DCIS in a young male is rarely reported. Our patient is a 25 year old male who presented with symptomatic unilateral gynecomastia. He presented with a strong family history of cancer on both maternal and paternal sides of his family including breast, lung (maternal) and melanoma, colon and pancreatic (paternal). His mother tested negative for BRCA1 and BRCA2. There is no information on the paternal genetic testing. He was treated with left subcutaneous mastectomy. Upon histologic review of the sample, concurrent gyecomastia and ductal carcinoma in situ was discovered. To date, only four cases of gynecomastia and DCIS have been described in younger male patients. Since only 30 - 50% of patients with DCIS eventually develop invasive cancer in the subsequent 10 - 20 years, this figure in the general population may be higher. This case underscores the importance of family history in any patient presenting with a breast mass. Patients must be made aware of the risk, however small it may be and physicians must remain cautious of malignancy in young males with gynecomastia. No significant financial relationships to disclose.

Bilateral breast cancer in a patient with a strong family history of cancer: Analysis of p53 germ line mutations

Breast Cancer ◽  
1994 ◽  
Vol 1 (2) ◽  
pp. 151-155 ◽  
Author(s):  
Takashi Fukutomi ◽  
Rie Inoue ◽  
Toshikazu Ushijima ◽  
Hitoshi Tsuda ◽  
Isamu Adachi
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Germ Line ◽  
Bilateral Breast Cancer ◽  
Strong Family History ◽  
Family History Of Cancer ◽  
Germ Line Mutations ◽  
History Of ◽  
History Of Cancer

Association of MRI and locoregional recurrence (LRR) rates in ductal carcinoma in situ (DCIS) patients treated with or without radiation therapy (RT).

2013 ◽  
Vol 31 (26_suppl) ◽  
pp. 57-57
Author(s):  
Melissa Louise Pilewskie ◽  
Cristina Olcese ◽  
Anne Eaton ◽  
Sujata Patil ◽  
Elizabeth Ann Morris ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Ductal Carcinoma ◽  
Menopausal Status ◽  
Patient Characteristics ◽  
Breast Conserving Surgery ◽  
Entire Cohort ◽  
History Of ◽  
History Presentation

57 Background: Perioperative MRI is frequently obtained in women with breast cancer; however, studies have not shown decreased rates of re-excision, and some report unnecessary increases in mastectomy rates. We examined LRR rates among women with DCIS who underwent perioperative MRI as compared to those who did not. Methods: All women who underwent breast-conserving surgery for DCIS in 1997-2010 were included from a prospectively maintained database. Patient characteristics and rates of LRR were compared in women with and without an MRI. Univariate and multivariate analyses were performed. Analysis was repeated in the subset of women who did not receive RT. Results: 2,321 cases were identified; 596 had MRI and 1,725 did not. Women who had MRI were younger, more likely to be premenopausal, have a family history of breast cancer, have a clinical presentation, receive RT and endocrine therapy, be treated in later years, and had fewer close/positive margins. At median follow-up of 57 months there were 184 IBTRs; 5-year LRR rates were 8.5% (MRI) and 7.2% (no MRI) (p = 0.52), and 8-year rates were 14.6% and 10.2%, respectively. MRI was not associated with lower LRR rates after adjustment for age, menopausal status, family history, presentation, adjuvant therapy, margin status, number of excisions, and year of surgery in both the entire cohort and in the subgroup who did not receive RT. Select factors from multivariate analysis for patients with all covariates available are shown in the Table. Conclusions: We observed no association between perioperative MRI and LRR rates for patients with DCIS, even when RT was not given. The benefit of perioperative MRI for DCIS remains uncertain. [Table: see text]

scholarly journals Assessment of knowledge, practice and attitude towards prostate cancer screening among male patients aged 40 years and above at Kitwe Teaching Hospital, Zambia

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Sakala Gift ◽  
Kasongo Nancy ◽  
Mwanakasale Victor
Keyword(s):  
Prostate Cancer ◽  
Cancer Screening ◽  
Family History ◽  
Positive Attitude ◽  
Prostate Cancer Screening ◽  
Screening Practice ◽  
History Of ◽  
Knowledge Practice ◽  
Male Patients ◽  
History Of Cancer

Abstract Background Prostate cancer is a leading cause of cancer death in men. Evaluating knowledge, practice and attitudes towards the condition is important to identify key areas where interventions can be instituted. Methods This was a hospital-based descriptive cross-sectional study aimed at assessing knowledge, practice and attitude towards prostate cancer screening among male patients aged 40 years and above at Kitwe Teaching Hospital, Zambia. Results A total of 200 men took part in the study (response rate = 100%). Of the 200 respondents, 67 (33.5%) had heard about prostate cancer and 58 (29%) expressed knowledge of prostate cancer out of which 37 (63.8%) had low knowledge. Twenty-six participants (13%) were screened for prostate cancer in the last 2 years. 98.5% of the participants had a positive attitude towards prostate cancer screening. Binary logistic regression results showed that advanced age (p = 0.017), having secondary or tertiary education (p = 0.041), increased knowledge (p = 0.023) and family history of cancer (p = 0.003) increased prostate cancer screening practice. After multivariate analysis, participants with increased knowledge (p = 0.001) and family history of cancer (p = 0.002) were more likely to practice prostate cancer screening. Conclusion The study revealed low knowledge of prostate cancer, low prostate cancer screening practice and positive attitude of men towards prostate cancer screening. These findings indicate a need for increased public sensitization campaigns on prostate cancer and its screening tests to improve public understanding about the disease with the aim of early detection.

Clinical Characteristics of Individuals With Germline Mutations in BRCA1 and BRCA2: Analysis of 10,000 Individuals

2002 ◽  
Vol 20 (6) ◽  
pp. 1480-1490 ◽  
Author(s):  
Thomas S. Frank ◽  
Amie M. Deffenbaugh ◽  
Julia E. Reid ◽  
Mark Hulick ◽  
Brian E. Ward ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Clinical Setting ◽  
Ductal Carcinoma ◽  
European Ancestry ◽  
Founder Mutations ◽  
Brca1 And Brca2 ◽  
High Risk Women ◽  
Breast Neoplasia ◽  
History Of

PURPOSE: To assess the characteristics that correlate best with the presence of mutations in BRCA1 and BRCA2 in individuals tested in a clinical setting. PATIENTS AND METHODS: The results of 10,000 consecutive gene sequence analyses performed to identify mutations anywhere in the BRCA1 and BRCA2 genes (7,461 analyses) or for three specific Ashkenazi Jewish founder mutations (2,539 analyses) were correlated with personal and family history of cancer, ancestry, invasive versus noninvasive breast neoplasia, and sex. RESULTS: Mutations were identified in 1,720 (17.2%) of the 10,000 individuals tested, including 968 (20%) of 4,843 women with breast cancer and 281 (34%) of 824 with ovarian cancer, and the prevalence of mutations was correlated with specific features of the personal and family histories of the individuals tested. Mutations were as prevalent in high-risk women of African (25 [19%] of 133) and other non-Ashkenazi ancestries as those of European ancestry (712 [16%] of 4379) and were significantly less prevalent in women diagnosed before 50 years of age with ductal carcinoma in situ than with invasive breast cancer (13% v 24%, P = .0007). Of the 74 mutations identified in individuals of Ashkenazi ancestry through full sequence analysis of both BRCA1 and BRCA2, 16 (21.6%) were nonfounder mutations, including seven in BRCA1 and nine in BRCA2. Twenty-one (28%) of 76 men with breast cancer carried mutations, of which more than one third occurred in BRCA1. CONCLUSION: Specific features of personal and family history can be used to assess the likelihood of identifying a mutation in BRCA1 or BRCA2 in individuals tested in a clinical setting.

Predictors that influence contralateral prophylactic mastectomy election among women with ductal carcinoma in situ who tested negative for a BRCA mutation.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 42-42
Author(s):  
Nisreen Elsayegh ◽  
Heather Y. Lin ◽  
Angelica M. Gutierrez-Barrera ◽  
Jessica Profato ◽  
Jennifer Keating Litton ◽  
...  
Keyword(s):  
Family History ◽  
Carcinoma In Situ ◽  
Ductal Carcinoma ◽  
Prophylactic Mastectomy ◽  
Brca Mutation ◽  
Contralateral Prophylactic Mastectomy ◽  
Factors Associated ◽  
History Of ◽  
Brca Negative

42 Background: Patients with ductal carcinoma in situ (DCIS) are at increased risk for developing contralateral breast cancer (CBC). Consequently, more women with DCIS are electing to undergo contralateral prophylactic mastectomy (CPM). We previously reported a 27% CPM rate among patients with DCIS who were evaluated for BRCA genetic testing (positive, negative, not tested). In this specific cohort, we further evaluated factors associated with CPM in patients with DCIS who tested negative for a BRCA mutation. Specifically, we aimed to identify differences within BRCA-negative patients who underwent CPM and those who did not. Methods: This retrospective study from a prospective registry included 100 women with DCIS referred for genetic counseling between 2003 and 2011. Patient characteristics included: age, marital and educational status, tumor markers, nuclear grade, family history of breast cancer (BC) and ovarian cancer (OC), race, Ashkenazi Jewish ancestry, and BRCA results. Univariate and multivariate logistic regression analyses were used to determine predictive factors associated with CPM election. Results: Of 100 BRCA-negative patients, 31 (31%) underwent CPM. Univariate analysis revealed patients who had a first-degree relative with OC were more likely to elect CPM that those who did not (p = 0.0278). Patients who had a family history of OC (53.3%) were more likely to choose CPM than those with no family history (p = 0.0425). Married patients were more likely to elect CPM than those who were not married (p = 0.0235). In multivariate analysis, married patients were more likely to elect CPM than those who were not married (OR = 4.367; 95% CI, 1.198-15.924; p = 0.0255). Conclusions: The CPM rate among patients with DCIS who tested negative for a BRCA mutation is high. Factors associated with increased rate of CPM among this group include a family history of OC and being married. Further studies are needed to evaluate patients' perceptions of CBC risk and their role in the likelihood of CPM choice.

scholarly journals Cancer Spectrum, Family History of Cancer and Overall Survival in Men with Germline BRCA1 or BRCA2 Mutations

2021 ◽  
Vol 11 (9) ◽  
pp. 917
Author(s):  
Florian Reichl ◽  
Daniela Muhr ◽  
Katharina Rebhan ◽  
Gero Kramer ◽  
Shahrokh F. Shariat ◽  
...  
Keyword(s):  
Overall Survival ◽  
Family History ◽  
Ductal Carcinoma ◽  
Family History Of Cancer ◽  
Hormone Receptor Positive ◽  
Common Cancer ◽  
Mutation Carriers ◽  
Brca1 Carriers ◽  
History Of ◽  
History Of Cancer

BACKGROUND: Men with germline BRCA1/2 mutations are not well studied compared to their female counterparts. This study evaluates the cancer characteristics, family history of cancer, and outcomes of male BRCA1/2 mutation carriers. METHODS: All men with germline BRCA1/2 mutations who attended genetic assessment between October 1995 and October 2019 at the Medical University of Vienna were identified. Clinicohistopathological features, family history of cancer, and outcomes were assessed by mutation status. RESULTS: Of the 323 men included, 45 (13.9%) had a primary cancer diagnosis, many of whom were BRCA2 carriers (75.5%). Breast cancer (BC) was the most common cancer (57.8%) followed by prostate cancer (15.6%). Invasive ductal carcinoma and hormone receptor positive tumors were the most common. Among 26 BC-affected patients, 42% did not have any relatives with cancer. Parent of origin was only known in half of the 26 men, with 42% of them inherited through the maternal lineage versus 8% through the paternal. BRCA2 carriers and those with a family history of BC had worse overall survival (20 y vs. 23 y BRCA1 carriers; P = 0.007; 19 y vs. 21 y for those without family history of BC; P = 0.036). CONCLUSION: Male BRCA2 carriers were most likely to develop cancer and had worse prognosis. In our dataset, BC was the most common cancer, likely due to referral bias. Not all mutation carriers present with BC or have a family history of cancer to warrant genetic testing.

scholarly journals Hunting for Familial Parkinson’s Disease Mutations in the Post Genome Era

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 430
Author(s):  
Steven R. Bentley ◽  
Ilaria Guella ◽  
Holly E. Sherman ◽  
Hannah M. Neuendorf ◽  
Alex M. Sykes ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Rare Variants ◽  
Strong Family History ◽  
Disease Mutations ◽  
Whole Exome ◽  
History Of ◽  
Functional Consequences ◽  
Multiplex Families

Parkinson’s disease (PD) is typically sporadic; however, multi-incident families provide a powerful platform to discover novel genetic forms of disease. Their identification supports deciphering molecular processes leading to disease and may inform of new therapeutic targets. The LRRK2 p.G2019S mutation causes PD in 42.5–68% of carriers by the age of 80 years. We hypothesise similarly intermediately penetrant mutations may present in multi-incident families with a generally strong family history of disease. We have analysed six multiplex families for missense variants using whole exome sequencing to find 32 rare heterozygous mutations shared amongst affected members. Included in these mutations was the KCNJ15 p.R28C variant, identified in five affected members of the same family, two elderly unaffected members of the same family, and two unrelated PD cases. Additionally, the SIPA1L1 p.R236Q variant was identified in three related affected members and an unrelated familial case. While the evidence presented here is not sufficient to assign causality to these rare variants, it does provide novel candidates for hypothesis testing in other modestly sized families with a strong family history. Future analysis will include characterisation of functional consequences and assessment of carriers in other familial cases.

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