PALB2 mutations in Brazilian patients from North-Northeast regions.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13670-e13670
Author(s):  
Thamara Ferreira ◽  
Thais Ferreira Bomfim-Palma ◽  
Isabelle Joyce de Lima Silva-Fernandes ◽  
Gabriela Espirito Santo Felix ◽  
Inacelli Queiroz De Souza Caires ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Male Breast Cancer ◽  
Clinical Management ◽  
Susceptibility Gene ◽  
High Risk Patient ◽  
Male Breast ◽  
The North ◽  
Number Of Patients ◽  
Increased Risk

e13670 Background: Loss-of-function mutations in PALB2 gene are associated with increased risk for breast cancer and possibly pancreatic, ovarian, male breast, prostate, colorectal as others cancers. In Brazil it has been estimated that up to 1,516 new cases of hereditary breast cancer for 2020 in the North and Northeast regions. Analysis of susceptibility gene mutations helps identify precisely the high-risk patient and their families, whom need specific and personalized clinical management as high-risk individuals. Methods: Twenty-six patients with pathogenic mutations in PALB2 gene identify by next-generation sequencing from states of Bahia (11), Ceará (9), Pernambuco (5) and Rondônia (1) in the North and Northeast regions were analyzed. Results: Most of the patients analyzed had only breast cancer (80%), including two cases of male breast cancer (9,5%); the others were isolated cases of endometrial cancer (4%), breast and pancreas cancers (4%), breast and lung cancers (4%), only ovarian cancer (4%) and ovarian and breast cancers (4%). Most cancers were stage II or III (65%). Family history of cancer was observed in 22/26 (84%); the most common tumors were breast, prostate, pancreas and thyroid. The founder mutations were more frequent in exons: 4 (58%) and 12 (15%). Eleven variants were found as follow: c.1240C > T (19%); c.3256delC (15%); c.1671_1674delTATT (11.5%); c.355delC (11.5%); NC_000016.9:g.(?_23632673)_(23652488_?)del (11,5%). The greatest variety of mutations was found in the state of Bahia, probably due to the greater number of patients included (42%). Conclusions: These data suggest that changes in clinical management of PALB2 patients are needed since the phenotype observed exhibited pattern of hereditary tumors, including male breast cancer. Besides that, PALB2 gene should be included in painel gene analysis in patients from the North and Northeast of Brazil because its high frequency of pathogenic variants.

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.

scholarly journals Evaluation of General, Pathological, and Radiological Features of Male Breast Cancer

2020 ◽  
Vol 17 (3) ◽  
Author(s):  
Fariba Zarei ◽  
Fereshte Bagheri ◽  
Amin Dehdashtian ◽  
Majid Akrami
Keyword(s):  
Breast Cancer ◽  
Survival Time ◽  
Male Breast Cancer ◽  
Medical Records ◽  
Male Breast ◽  
Treatment Modalities ◽  
Time Interval ◽  
Number Of Patients ◽  
History Of

Background: Male breast cancer (MBC) is an infrequent disease and a scarcely researched topic. Since the incidence of male breast cancer is increasing and so far, management advices have been concluded from results of trials in female patients, there has been a growing interest in this field of research. Objectives: In this study, we aimed to evaluate the general, radiological and pathological features of MBC patients. Patients and Methods: We retrospectively reviewed the medical records of MBC patients who had been referred to breast clinic, Shahid Motahari in Shiraz, Iran, between 2005 and 2018. Data regarding general characteristics of patients such as demographic information, age, and also past history of any cancer, family history of breast cancer, mammogram and ultrasound findings, stage, size and location of tumor, histopathology of tumor, metastasis, treatment modalities and follow-up time were attained by reviewing medical records. Results: Fifty-one patients with MBC were included with the mean age of 58.4 years. Invasive ductal carcinoma was the most prevalent pathologic type. By use of the Kaplan Meier survival estimate, survival probability of patients for each time interval after diagnosis was calculated. There was a decline over time until about 85 months after diagnosis when it reached a plateau state above 50%. Age, human epidermal growth factor receptor 2 (HER2) and metastasis showed to lower the survival time by increasing the hazard ratio. Only 13 patients had mammography and 22 had an ultrasound, which are less than 50% of the total number of patients. Conclusions: This study showed that there is still unfulfilled need to evaluate MBC in order to find the best management guidelines such as screening in high risk populations, diagnosis, treatment, and follow-up. Risk factor evaluation, survival time, and diagnostic radiologic modalities have not been well assessed in MBC so far.

Characteristics and survival of secondary male breast cancer: SEER database analysis.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13690-e13690
Author(s):  
John Khoury ◽  
Siddhartha Yadav ◽  
Tara Rangarajan ◽  
Dana Zakalik
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Hormone Receptors ◽  
Latency Period ◽  
Male Breast ◽  
Stage I ◽  
Second Primary ◽  
Second Primary Malignancy ◽  
Primary Malignancy ◽  
Increased Risk

e13690 Background: Male breast cancer (MBC) is rare accounting for less than 0.5% of all cancer diagnoses in men. We used the term secondary male breast cancer (sMBC) to refer to ipsilateral and contralateral recurrences in addition to new primary MBC. Given its low incidence, data regarding the risk of developing sMBC and its characteristics are scarce. Methods: Multiple Primary Standardized Incidence Ratios (MP-SIR) session was conducted from the SEER*Stat software. We included all patients diagnosed with stage I,II and III MBC between 1990 to 2015 from the Surveillance Epidemiology and End Results (SEER) 18 registry. The standardized incidence ratio (SIR) was calculated as an estimate of the risk of a second primary malignancy based on the incidence in the general population. Descriptive statistics and Kaplan-Meier analysis were performed using SPSS software. Results: Among all 2321 men diagnosed with a first primary MBC during the study period, 28 patients had a subsequent diagnosis of MBC. The risk of sMBC was significantly elevated with SIR of 33.12 (95% CI, 22.18 – 47.56). The median latency period between the initial and subsequent diagnoses was 5.9 years. 82.1% of the patients were White, 14.3% Black and 3.6% Asian/Pacific Islander. Majority of the cases constituting 85.7% of sMBC were diagnosed in the contralateral breast. 67.8% of the sMBC remained hormone receptors status positive similar to the initial status of the primary diagnosis. 42.9% of the sMBC patients were diagnosed with stage I, 17.9% with stage II, 3.6% with stage III, 17.9% with stage IV and 17.9% of unknown stage. The median overall survival for sMBC was 96 months (95% CI, 11.3-180.6). We also found an increased risk of developing liver cancer (SIR: 2.16), prostate cancer (SIR: 1.29), thyroid cancer (SIR: 3.08) and acute myeloid leukemia (SIR: 2.4) in individuals after a diagnosis of MBC. Conclusions: Men diagnosed with breast cancer are at increased risk of sMBC in addition to other malignancies which require careful monitoring after completing initial treatment. Contralateral mammogram screening or prophylactic contralateral mastectomy can be considered based on patient’s preferences and values.

Screening for a BRCA2 Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes

2007 ◽  
Vol 25 (15) ◽  
pp. 2027-2034 ◽  
Author(s):  
Patrícia M. Machado ◽  
Rita D. Brandão ◽  
Branca M. Cavaco ◽  
Joana Eugénio ◽  
Sandra Bento ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Male Breast Cancer ◽  
Brca Mutation ◽  
Male Breast ◽  
Rt Pcr ◽  
Brca Mutations ◽  
Cancer Phenotypes ◽  
High Risk Breast

Purpose BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level. Patients and Methods We studied 210 high-risk breast/ovarian cancer families. Fifty-three probands were fully screened for BRCA1/2 mutations, and three of 53 had a large insertion in exon 3 of BRCA2. This finding was analyzed by polymerase chain reaction (PCR), reverse transcriptase PCR (RT-PCR), and sequencing. An additional 157 consecutive families were screened for this mutation by a three-step PCR method. Phenotype and haplotype analysis was also performed. Results Sixteen BRCA mutations were observed in 19 of 53 patients (36% detection rate). A recurrent Alu motif insertion in position c.156_157 was observed after sequencing of an abnormal fragment obtained after the amplification of BRCA2 exon 3. RT-PCR revealed exon 3 skipping. Screening of this rearrangement identified 14 additional families (out of 157). In total, 17 (8%) of 210 high-risk families ascertained in our clinic were positive for this mutation. Segregation of a common haplotype (from D13S260 to D13S1695) confirmed a common origin, estimated to have occurred 2,400 to 2,600 years ago. The following four cancer phenotypes were observed in the 17 positive families: female breast (n = 9), male breast (n = 4), breast/ovarian (n = 2), and heterogeneous (n = 2). Male breast cancer was more frequently observed in c.156_157insAlu–positive families compared with negative families (23% v 12%, respectively), and 33% of all male breast cancer families with an identified BRCA mutation were c.156_157insAlu positive. Conclusion c.156_157insAlu is a founder mutation of Portuguese origin and is the most frequent BRCA2 rearrangement described to date.

scholarly journals Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing

2016 ◽  
Vol 24 (11) ◽  
pp. 1591-1597 ◽  
Author(s):  
Helen Byers ◽  
Yvonne Wallis ◽  
Elke M van Veen ◽  
Fiona Lalloo ◽  
Kim Reay ◽  
...  
Keyword(s):  
Breast Cancer ◽  
High Risk ◽  
Male Breast Cancer ◽  
Male Breast ◽  
Panel Testing ◽  
High Risk Breast

Male breast cancer: a review of clinical management

2006 ◽  
Vol 103 (1) ◽  
pp. 11-21 ◽  
Author(s):  
A. Agrawal ◽  
A. A. Ayantunde ◽  
R. Rampaul ◽  
J. F. R. Robertson
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Clinical Management ◽  
Male Breast

scholarly journals Current routines for antibiotic prophylaxis prior to transrectal prostate biopsy: a national survey to all urology clinics in Sweden

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 58 ◽  
Author(s):  
Johan Styrke ◽  
Sven Resare ◽  
Karl-Johan Lundström ◽  
Patrick Masaba ◽  
Christofer Lagerros ◽  
...  
Keyword(s):  
Single Dose ◽  
High Risk ◽  
Antibiotic Prophylaxis ◽  
Prostate Biopsy ◽  
High Risk Patient ◽  
Guideline Recommendation ◽  
Risk Of Infection ◽  
Urine Dipstick ◽  
Number Of Patients ◽  
Increased Risk

Background: The risk of infection after transrectal ultrasound (TRUS)-guided prostate biopsies is increasing. The aim of the study was to assess the use of antibiotic prophylaxis for prostate biopsy in Sweden. Methods: All public and private urology clinics reporting to the National Prostate Cancer Register of Sweden received a survey on TRUS-biopsy prophylaxis. Results: Of the 84 clinics surveyed, 76 replied (90%). If no risk factors for infection were present, a single dose of ciprofloxacin 750 mg was used by 50 clinics (66%). Multiple doses of ciprofloxacin 500 or 750 mg (n=14; 18%) or a single dose of trimethoprim-sulfamethoxazole 160/800 mg (n=7; 9%) were other common prophylaxes. Most clinics gave the prophylaxes immediately before the biopsy (n=41; 54%). Urine dipstick was used by 30 clinics (39%) and rectal enema by six (8%). In patients with high risk of infection, the survey mirrors a large variety of regiments used. Conclusions: The preference to use a single dose of ciprofloxacin 750 mg is in accordance with the Swedish national guidelines for patients with a low risk of infection. Better compliance to the guideline recommendation to use a urine dipstick would probably increase the number of patients classified as having an increased risk of infection. Being classified as a high-risk patient should lead to an extended duration of antibiotic prophylaxis, however, the variety of regimens used in the high-risk group reflects an inability to treat these patients in a standardized fashion and also highlights a need for more clear-cut guidelines. Pre-biopsy identification of high-risk patients is an important issue to tackle for the urologic clinics in order to reduce the number of infections.

scholarly journals The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases

2010 ◽  
Vol 18 (7) ◽  
pp. 856-858 ◽  
Author(s):  
Ines Zanna ◽  
Piera Rizzolo ◽  
Francesco Sera ◽  
Mario Falchetti ◽  
Paolo Aretini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Male Breast Cancer ◽  
Clinical Management ◽  
Male Breast

scholarly journals Male Breast Cancer as a Second Primary Cancer: Increased Risk Following Lymphoma

2017 ◽  
Vol 22 (8) ◽  
pp. 895-900 ◽  
Author(s):  
Deborah E. Farr ◽  
Alexandra Thomas ◽  
Seema Ahsan Khan ◽  
Mary C. Schroeder
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Male Breast ◽  
Second Primary ◽  
Primary Cancer ◽  
Second Primary Cancer ◽  
Increased Risk

scholarly journals Genetic Landscape of Male Breast Cancer

Cancers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 3535
Author(s):  
Fernando Augusto Batista Campos ◽  
Etienne Rouleau ◽  
Giovana Tardin Torrezan ◽  
Dirce Maria Carraro ◽  
José Claudio Casali da Rocha ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Male Breast Cancer ◽  
Female Breast Cancer ◽  
Male Breast ◽  
Cancer Genes ◽  
Brca1 And Brca2 ◽  
Increased Risk ◽  
Genetic Landscape ◽  
Estimated Risk ◽  
Brca1 And Brca2 Mutations

Male breast cancer (MBC) is now considered molecularly different from female breast cancer (FBC). Evidence from studies indicates that common genetic and epigenetic features of FBC are not shared with those diagnosed in men. Genetic predisposition is likely to play a significant role in the tumorigenesis of this rare disease. Inherited germline variants in BRCA1 and BRCA2 account for around 2% and 10% of MBC cases, respectively, and the lifetime risk of breast cancer for men harboring BRCA1 and BRCA2 mutations is 1.2% and 6.8%. As for FBC, pathogenic mutations in other breast cancer genes have also been recently associated with an increased risk of MBC, such as PALB2 and CHEK2 mutations. However, while multigene germline panels have been extensively performed for BC female patients, the rarity of MBC has resulted in limited data to allow the understanding of the magnitude of risk and the contribution of recently identified moderate penetrance genes of FBC for MBC predisposition. This review gathers available data about the germline genetic landscape of men affected by breast cancer, estimated risk associated with these genetic variants, and current guidelines for clinical management.

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