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18 results on '"BRCA-2"'

1. BRCA-2 (+) high-grade serous fallopian tube cancer diagnosed as an isolated breast mass by mammography

Author

Janelle N. Sobecki, Kathryn A. Dryer, Aparna M. Mahajan, and Ryan J. Spencer

Subjects
Ovarian cancer distant metastasis, BRCA-2, Breast mass, PARP inhibitor, Gynecology and obstetrics, RG1-991, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Ovarian cancer typically presents at advanced stage with intra-abdominal metastases. Rarely, ovarian cancer presents with distant metastases with little to no intra-abdominal disease burden. The patient was a BRCA-2 germline mutation carrier diagnosed with a Stage IVB high-grade carcinoma of the fallopian tube following discovery of a right axillary breast mass on screening mammography. Pre-operative imaging was without evidence of metastatic disease in the abdomen or pelvis. She underwent surgical staging followed by adjuvant chemotherapy and maintenance poly-ADP ribose polymerase (PARP) inhibition. She is without evidence of disease 24 months following her surgical staging procedure. An isolated oligo metastasis in the axilla is a rare presentation of ovarian carcinoma. Extra-abdominal metastases can present a diagnostic challenge in ovarian cancer necessitating thorough pathologic and radiologic work-up, particularly in the absence of intra-abdominal disease.

Published
2021
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2. The emerging role of PARP inhibitors in prostate cancer.

Author

Stellato, Marco, Guadalupi, Valentina, Sepe, Pierangela, Mennitto, Alessia, Claps, Mélanie, Zattarin, Emma, Verzoni, Elena, Valdagni, Riccardo, De Braud, Filippo Gm, Santini, Daniele, Tonini, Giuseppe, and Procopio, Giuseppe

Subjects
POLY(ADP-ribose) polymerase, PROSTATE cancer, POLY ADP ribose, GENETIC mutation, MULTIENZYME complexes, PROSTATE-specific antigen, DNA repair
Abstract

Introduction: In prostate cancer , there has recently been an emerging interest in mutations in genes belonging to the homologous recombination repair (HRR) pathway and in the inhibition of poly (ADP-ribose) polymerase (PARP) proteins.Areas Covered: Mutations in the HRR genes, including BRCA1, BRCA2, and Ataxia-Telangiesctasia mutated (ATM), have been reported in prostate cancer, with different incidence in the localized and advanced settings. The PARP enzyme complex is involved in repair of DNA damage and its inhibition causes the accumulation of DNA mutations in HRR deficient cells. Several PARP inhibitors (PARPi) are under development, such as olaparib, talazoparib, niraparib, rucaparib, and veliparib. In metastatic castration resistant prostate cancer (mCRPC), olaparib has been the most studied and its clinical efficacy has been validated in a phase III clinical trial. Rucaparib and niraparib have also shown promising results in the preliminary analyzes of two phase II trials, while talazoparib is currently under development.Expert Opinion: PARPi have become part of the treatment of mCRPC. Early results of combination therapy with PARPi and new hormonal therapy are promising and are supported by a strong biological rationale. Current results need to be validated in randomized phase III-controlled trials in order to translate the use of PARPi into real world practice. [ABSTRACT FROM AUTHOR]

Published
2020
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3. Meme Kanserinde Brca-1 ve Brca-2'de Sık Görülen Polimorfizm Mutasyonların Bölgemizde Varlığı.

Author

Akkuzu, Mustafa Zanyar, Küçüköner, Mehmet, Irtegun, Sevgi, Akdeniz, Nadiye, Urakçı, Zuhat, Kaplan, Muhammet Ali, Büyükbayram, Hüseyin, and Işıkdoğan, Abdurrahman

Abstract

Objective: Breast cancer is the most common cancer in women and the most common cause of death. Many tumor suppressor genes, oncogenes and DNA repair genes play a role in breast cancer formation. Tumor suppressor genes are genes known to cause breast cancer of p53, ATM, PTEN, BRCA-1 and BRCA-2 genes. In our country, there is a need for studies on mutation detection in BRCA-1-2 genes. In this study, the frequency of polymorphism mutations in BRCA-1-2 genes in other regions of our country was investigated in our region. In our study, young age group (under the age of 44) in the Department of Oncology at Dicle University was studied from the tumor tissues of 96 patients who were diagnosed with breast cancer in women. We aimed to determine the polymorphic mutations of BRCA-1 (rs16942, rs1799966) and BRCA-2 (rs144848, rs1799944) genes using the "LightCycler" PCR instrument from PCR specific detection group by Hybridization Probe Method. Results: 14 (14.5%) homozygotes (GG) and 55 (57.3%) heterozygotes (AG) were found in rs16942 of the BRCA-1 gene of the study patients; 18 (18.7%) homozygotes (GG) and 46 (47.9%) heterozygotes (AG) in rs1799966; 9 (9.37%) homozygotes (TT) and 25 (26.04%) heterozygotes (GT) in the BRCA-2 gene rs144848; We found polymorphic gene mutations in 2 (2.08%) homozygous (GG) and 3 (3.12%) heterozygous (AG) patients in rs1799944. We found that these mutations were not associated with stage, ER positivity, Grade, age and HER-2 positivity. Age and mutation frequency increased at age 35 but p value was not significant. When the stage and mutation frequency were examined, the rate of stage 2 and stage 3 mutations increased and p value was not clinically significant. Similarly, when we look at the relationship between grade and mutation rate, we found that the frequency of grade 2 and grade 3 mutation was higher but not clinically significant. Conclusion: These polymorphism mutations were found to be important in terms of our region. For this reason, it is necessary to carry out genetic screening of breast cancer cases and family members at early ages. We also found that these polymorphism mutations in BRCA-1 / BRCA-2 were not associated with age, stage, grade, ER status, HER status. [ABSTRACT FROM AUTHOR]

Published
2019
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4. Numerical modeling of graphene-coated fiber optic surface plasmon resonance biosensor for BRCA1 and BRCA2 genetic breast cancer detection.

Author

Hossain, Md. Biplob, Akib, Tarik Bin Abdul, Abdulrazak, Lway Faisal, and Rana, Md. Masud

Subjects
*SURFACE plasmon resonance, *BREAST cancer, *ATTENUATED total reflectance, *COMPLEMENTARY DNA, *DNA probes, *ANTISENSE DNA
Abstract

A numerical illustration of a hybrid design and numerical analysis of graphene-coated fiber-optic surface plasmon resonance (SPR) biosensor for BRCA-1 and BRCA-2 genetic breast cancer detection is provided. Two specific mutations named 916delTT in BRCA-1 gene and 6174delT in BRCA-2 gene are being selected for detection of breast cancer numerically. This sensor is based on attenuated total reflection (ATR) method to detect individual point mutations in BRCA-1 and BRCA-2 genes. Based on the numerically obtained results, a momentous change is present in the SPR angle (minimum 35% more) and surface resonance frequency (SRF) (minimum 36% more) for probe DNA with various concentrations of target DNA corresponding to the mutation of the BRCA-1 and BRCA-2 genes. The variation of the SPR angle and SRF for mismatched DNA strands in BRCA-1 and BRCA-2 genes is quite negligible, whereas that for complementary DNA strands is considerable. This considerable change is essential for proper detection of genetic biomarkers (916delTT and 6174delT) for early breast cancer. To the best of our knowledge, this is the first demonstration of such an adept biosensor for detecting BRCA1 and BRCA2 genetic breast cancer. Here, we used graphene as bimolecular acknowledgement element for improving sensor performance. At the end of the article, the performance in terms of sensitivity is analyzed. Therefore, the proposed biosensor opens a window toward detection of early detection of BRCA-1 and BRCA-2 genetic breast cancers. [ABSTRACT FROM AUTHOR]

Published
2019
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5. Meme Kanserinde Brca-1 ve Brca-2’de Sık Görülen Polimorfizm Mutasyonların Bölgemizde Varlığı

Author

Sevgi Irtegun, Muhammet Ali Kaplan, Abdurrahman Işikdoğan, Nadiye Akdeniz, Mustafa Zanyar Akkuzu, Hüseyin Büyükbayram, Mehmet Kucukoner, Zuhat Urakci, Dicle Üniversitesi, Tıp Fakültesi, Tıbbi Onkoloji Bilimdalı, and 0-Belirlenecek

Subjects
BRCA-1, BRCA-2, meme kanseri, lcsh:R5-920, Meme kanseri, Breast cancer, Health Care Sciences and Services, General Mathematics, lcsh:R, lcsh:Medicine, brca-1, brca-2, Sağlık Bilimleri ve Hizmetleri, lcsh:Medicine (General)
Abstract

Amaç: Meme kanseri kadınlar arasında en sık görülen ve en fazla ölüme neden olan kanser tipidir. Meme kanseri oluşumunda birçok tümör supresör gen, onkogen ve DNA tamir genleri rol oynamaktadır. Tümör supresör genlerden BRCA-1-2 meme kanserine yol açtığı bilinen genlerdir. Bu çalışmada ülkemizde başka bölgelerde yapılmış olan BRCA1-2 genlerinde ki sık görülen polimorfizm mutasyonların kendi bölgemizdeki sıklığı araştırıldı. Araştırmamızda Dicle Üniversitesi Onkoloji Bilim Dalında meme kanseri tanısı almış genç yaş (44 yaş altı) grubu 96 hastanın tümör dokusundan çalışıldı. BRCA-1 (rs16942, rs1799966) ve BRCA-2 (rs144848, rs1799944) genlerine ait polimorfik mutasyonları PCR özgül belirleme grubundan Hibridizasyon Prob Yöntemiyle “LightCycler” PCR cihazı kullanılarak belirlemeyi amaçladık. Bulgular: Çalışma hastalarının BRCA-1 genine ait rs16942’de 14 (%14,5) adet homozigot (GG), 55 (%57,3) adet heterozigot (AG) ; rs1799966’ da 18 (%18,7) adet homozigot (GG), 46 (%47,9) adet heterozigot (AG); BRCA-2 genine ait rs144848’ de 9 (%9,37) adet homozigot (TT), 25 (%26,04) adet heterozigot (GT); rs1799944’ de de 2 (%2,08) adet homozigot (GG), 3 (%3,12) adet heterozigot (AG) hastada polimorfik gen mutasyonları saptadık. Bu mutasyonların hastalık yaş grubu, evre, grade, ER pozitifliği ve HER-2 pozitifliği ile ilişkili olmadığını saptadık. Yaş ile mutasyon sıklığı bakıldığında 35 yaş altında, evre 2 ve evre 3’ de, grade 2 ve grade 3’de mutasyon oranları numerik olarak artmakla beraber p değerinin klinik bir anlamlılık yoktu. Sonuç: Bölgemiz açısından BRCA-1-2 polimorfizm mutasyonları önemli oranda olup hasta bireylerin ve ailelerin taranması önemlidir. BRCA-1/BRCA-2 deki bu polimorfizm mutasyonlarının yaş, evre, grade, ER durumu, HER durumu ile ilişkisinin olmadığını saptadık. Objective: Breast cancer is the most common cancer in women and the most common cause of death. Many tumor suppressor genes, oncogenes and DNA repair genes play a role in breast cancer formation. Tumor suppressor genes are genes known to cause breast cancer of p53, ATM, PTEN, BRCA-1 and BRCA-2 genes. In our country, there is a need for studies on mutation detection in BRCA-1-2 genes. In this study, the frequency of polymorphism mutations in BRCA-1-2 genes in other regions of our country was investigated in our region. In our study, young age group (under the age of 44) in the Department of Oncology at Dicle University was studied from the tumor tissues of 96 patients who were diagnosed with breast cancer in women. We aimed to determine the polymorphic mutations of BRCA-1 (rs16942, rs1799966) and BRCA-2 (rs144848, rs1799944) genes using the "LightCycler" PCR instrument from PCR specific detection group by Hybridization Probe Method. Results: 14 (14.5%) homozygotes (GG) and 55 (57.3%) heterozygotes (AG) were found in rs16942 of the BRCA-1 gene of the study patients; 18 (18.7%) homozygotes (GG) and 46 (47.9%) heterozygotes (AG) in rs1799966; 9 (9.37%) homozygotes (TT) and 25 (26.04%) heterozygotes (GT) in the BRCA-2 gene rs144848; We found polymorphic gene mutations in 2 (2.08%) homozygous (GG) and 3 (3.12%) heterozygous (AG) patients in rs1799944. We found that these mutations were not associated with stage, ER positivity, Grade, age and HER-2 positivity. Age and mutation frequency increased at age 35 but p value was not significant. When the stage and mutation frequency were examined, the rate of stage 2 and stage 3 mutations increased and p value was not clinically significant. Similarly, when we look at the relationship between grade and mutation rate, we found that the frequency of grade 2 and grade 3 mutation was higher but not clinically significant. Conclusion: These polymorphism mutations were found to be important in terms of our region. For this reason, it is necessary to carry out genetic screening of breast cancer cases and family members at early ages. We also found that these polymorphism mutations in BRCA-1 / BRCA-2 were not associated with age, stage, grade, ER status, HER status.

Published
2019
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6. BRCA-2 (+) high-grade serous fallopian tube cancer diagnosed as an isolated breast mass by mammography

Author

Ryan J. Spencer, Aparna Mahajan, Kathryn A. Dryer, and Janelle N. Sobecki

Subjects
medicine.medical_specialty, endocrine system diseases, BRCA-2, Case Report, lcsh:Gynecology and obstetrics, lcsh:RC254-282, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Ovarian carcinoma, Carcinoma, medicine, Mammography, Breast mass, Ovarian cancer distant metastasis, skin and connective tissue diseases, lcsh:RG1-991, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, medicine.disease, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, female genital diseases and pregnancy complications, Serous fluid, medicine.anatomical_structure, PARP inhibitor, Oncology, 030220 oncology & carcinogenesis, Fallopian tube cancer, Radiology, Ovarian cancer, business, Fallopian tube
Abstract

Highlights • High grade serous carcinomas rarely present as oligometastases. • Oligometastases of Mullerian carcinoma to the breast are very rare. • PARP inhibitors are an effective maintenance therapy in patients with BRCA mutations., Ovarian cancer typically presents at advanced stage with intra-abdominal metastases. Rarely, ovarian cancer presents with distant metastases with little to no intra-abdominal disease burden. The patient was a BRCA-2 germline mutation carrier diagnosed with a Stage IVB high-grade carcinoma of the fallopian tube following discovery of a right axillary breast mass on screening mammography. Pre-operative imaging was without evidence of metastatic disease in the abdomen or pelvis. She underwent surgical staging followed by adjuvant chemotherapy and maintenance poly-ADP ribose polymerase (PARP) inhibition. She is without evidence of disease 24 months following her surgical staging procedure. An isolated oligo metastasis in the axilla is a rare presentation of ovarian carcinoma. Extra-abdominal metastases can present a diagnostic challenge in ovarian cancer necessitating thorough pathologic and radiologic work-up, particularly in the absence of intra-abdominal disease.

Published
2020

7. Double Heterozygotes for Non-Caucasian Families with Mutations in BRCA-1 and BRCA-2 Genes.

Author

Choi, Doo Ho, Lee, Min Hyuk, and Haffty, Bruce G.

Subjects
*BREAST cancer, *CAUCASIAN race, *KOREANS, *GENES, *LITERATURE, *PATIENTS, *CANCER, *GENETIC disorders, *FAMILIAL diseases
Abstract

The recent discovery of the BRCA-1 and BRCA-2 genes as contributing factors to hereditary breast cancer has significantly improved our understanding of familial breast cancer. Deleterious mutations in both BRCA-1 and BRCA-2 in an individual patient is exceedingly rare, with few case reports in the literature, particularly among non-Caucasian, non-Jewish families. We describe here two cases of deleterious mutations in both genes in a cohort of Korean women with early onset breast cancer. [ABSTRACT FROM AUTHOR]

Published
2006
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8. Risk Assessment: Controversies and Management of Moderate- to High-Risk Individuals.

Author

Brown, Powel

Subjects
*BREAST cancer, *WOMEN'S health, *THERAPEUTICS, *PREVENTIVE medicine, *CHEMOPREVENTION, CANCER susceptibility
Abstract

With the current understanding of sporadic and familial breast cancer, it is now possible to identify individuals who have a moderate or high risk of breast cancer. For these individuals, it is useful to perform formal cancer risk assessment and develop an individualized risk reduction plan, including a tailored plan for cancer screening, preventive therapy, and/or prophylactic surgery. Assessment using a predictive model such as the Gail model is particularly useful in individuals at increased risk for sporadic breast cancer. In addition, assessment of risk based on histologic appearance of benign or premalignant breast lesions can be used to identify individuals for whom more aggressive risk reduction strategies are warranted. For individuals who are at risk for familial cancer syndromes, other predictive models are more appropriate. For this extremely high-risk group, genetic testing for mutations in familial cancer susceptibility genes is helpful to identify individuals who would benefit from even more aggressive cancer risk reduction strategies. Strategies to identify the levels of risk for breast cancer, including the identification of moderate, high, or very high risk groups are discussed. Management options for these groups are presented, including who to consider for more aggressive screening, chemoprevention, or prophylactic surgery. Current recommendations for screening, chemoprevention, and surgery for each risk group are presented. The ability to identify individuals at high risk for breast cancer now enables clinicians to intervene to reduce the risk of breast cancer. Aggressive screening, preventive therapy, and prophylactic surgery in moderate- to high-risk individuals should, in the future, significantly reduce the incidence of invasive breast cancer. [ABSTRACT FROM AUTHOR]

Published
2005
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9. Initial Experience with Surgical Treatment Planning in the Newly Diagnosed Breast Cancer Patient at High Risk forBRCA-1orBRCA-2Mutation.

Author

Stolier, Alan J., Fuhrman, George M., Mauterer, Lynnette, Bolton, John S., and Superneau, Duane W.

Subjects
*BREAST cancer, *THERAPEUTICS, *MASTECTOMY, *HEALTH counseling, *RADIOTHERAPY, *GENETIC mutation
Abstract

Despite an abundance of information available for dealing with patients withBRCA-1andBRCA-2mutations, little guidance is available to assist the surgeon in dealing with the genetically high-risk patient recently diagnosed with breast cancer. A retrospective review was undertaken of 170 patients who underwent genetic counseling and testing over a 3-year period from March 2000 to March 2003. Forty-three of the 170 patients tested were diagnosed with breast cancer prior to genetic testing. Nine patients (20.9%) tested positive for a deleterious mutation. Fifty-eight percent underwent genetic counseling prior to definitive cancer surgery. Five of the 25 patients who underwent lumpectomy tested positive for a deleterious mutation. Testing results became available during systemic therapy or radiation was delayed until results were known. After counseling, all five patients testing positive went on to bilateral prophylactic mastectomy and reconstruction. None had radiation therapy. Because of a strong family history, eight patients elected to undergo prophylactic mastectomy and reconstruction prior to obtaining genetic test results; and despite compelling histories, all eight tested negative for a mutation. Treatment algorithms are developed to manage patients that are first discovered to be at high risk for aBRCA-1orBRCA-2mutation at the time they are diagnosed with breast cancer. Patients diagnosed with breast cancer who are discovered to be at high risk for a genetic mutation should undergo counseling prior to definitive surgery. This maximizes the time that patients have to consider options for prophylaxis and monitoring should their test be positive. It also prevents women who would otherwise be candidates for breast preservation from undergoing unnecessary radiation therapy should they chose prophylactic mastectomy in the face of a positive test. [ABSTRACT FROM AUTHOR]

Published
2004
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10. Male Patients with Diagnoses of Both Breast Cancer and Prostate Cancer.

Author

Leibowitz, Stacey B., Garber, Judy E., Fox, Edward A., Loda, Massimo, Kaufman, Donald S., Kantoff, Philip W., and Oh, William K.

Subjects
*BREAST cancer, *PROSTATE cancer, *CANCER in men, *MALE reproductive organ cancer
Abstract

Recently cancer susceptibility syndromes have been characterized that suggest possible genetic linkages between breast cancer and prostate cancer within families. Despite these connections, male breast cancer and prostate cancer in an individual man has rarely been reported. The clinical features of 10 patients with both of these cancers are described here. One hundred sixty-one patients with male breast cancer were seen at the Dana-Farber Cancer Institute and Massachusetts General Hospital between 1977 and 2000. Of these, 10 were identified who also had prostate cancer. A retrospective review of records from these 10 patients was performed. Breast cancer preceded prostate cancer in eight of these men. The mean age of diagnosis of breast cancer was 65.7 years (range 47–72 years). Twenty percent had nodal involvement at diagnosis and two patients ultimately developed evidence of metastatic disease. The mean age of diagnosis of prostate cancer was 68.0 years (range 51–76 years) with a median prostate-specific antigen (PSA) level at diagnosis of 6 ng/ml (range 1.8–47.5 ng/ml). Seven patients had a family history of female breast cancer in a first-degree relative, while one had a family history of prostate cancer. At a median follow-up of 6.5 years from initial cancer diagnosis, one patient had died of metastatic breast cancer and another had died of metastatic prostate cancer. The clinical features and course of the breast cancers diagnosed in this series do not appear significantly different from those described for the general population of male breast cancer patients. In addition, these men do not appear to develop prostate cancer at an earlier age or more aggressive stage than the general population. [ABSTRACT FROM AUTHOR]

Published
2003
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11. Prevalence of Family History of Breast and Ovarian Cancer in a Single Primary Care Practice Using a Self-Administered Questionnaire.

Author

Hughes, Kevin S., Roche, Constance, Campbell, Curtis T., Siegel, Nancy, Salisbury, Lisa, Chekos, Amy, Katz, Maya S., and Edell, Erica

Subjects
*GENETICS of breast cancer, *OVARIAN cancer, *TUMOR risk factors, *HEALTH risk assessment
Abstract

Women at high risk of hereditary breast and/or ovarian cancer require specific management strategies for cancer prevention and early detection. The goal of this study was to determine the prevalence of familial breast and ovarian cancer among patients in a primary care practice. Questionnaires were mailed to the 608 women less than 81 years of age in a single primary care practice. Additional mailings and phone calls were used for nonresponders. Data were analyzed by bloodline, the degree of relative, age of diagnosis and cancer type. Women were grouped into three categories of breast/ovarian family history: “no family history,”“insignificant family history,” and “significant potentially high-risk family history” (women with two or more relatives in a single bloodline with breast and/or ovarian cancer, a single individual with bilateral breast cancer or breast and ovarian cancer, or breast and/or ovarian cancer at less than 40 years of age). A pedigree analysis of women categorized as “significant potentially high-risk family history” further classified these women as to the likelihood of being at risk for hereditary cancer. Data were obtained from 567 women (93%); 27 patients with a personal diagnosis of breast and/or ovarian cancer were excluded. Of the 540 remaining respondents, 351 (65%) had no family history of cancer, 138 (25.6%) had an insignificant family history, and 51 (9.4%) had a significant family history. Based on pedigree analysis of these 51 patients, 19 were unlikely to be at high risk for hereditary cancer, and 32 (6%) were likely to be at significant risk and warrant intensive evaluation. The large proportion of women identified with a significant family history of breast and/or ovarian cancer has major implications regarding the magnitude of a population-based process to identify and manage high-risk individuals. [ABSTRACT FROM AUTHOR]

Published
2003
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12. Clinical management of breast cancer in males: a report of four cases

Author

Heinig, Joerg, Jackisch, Christian, Rody, Achim, Koch, Olaf, Buechter, Dorothe, and Schneider, Hermann P.G.

Subjects
*BREAST cancer treatment, *MALES, *PROGNOSIS
Abstract

Breast cancer in men is a rare cancer manifestation, accounting for less then 1% of all breast cancers in both genders. The incidence in Germany during the last years has been approximately 1.0 per year/100,000. In the US, only 0.2% of all malignancies in men. Predisposing risk factors seem to include radiation exposure, hereditary factors, estrogen administration, and diseases associated with hyperestrogenism, such as cirrhosis of the liver or genetic syndromes (i.e. Klinefelter disease). The incidence of male breast cancer is increased in families with a number of first degree relatives affected with breast or prostate cancer. An increased risk of male breast cancer has been reported in families with a mutation of the breast cancer susceptibility gene BRCA-2. For a period of decades, prognosis of breast cancer in males was thought to be worse than that of female patients. Data and cases being published demonstrate that prognosis and strategies of treatment in male breast cancer do not differ from those in females. The cases presented clearly demonstrate that diagnostic work-up, staging procedures and treatment options for primary treatment and advanced stages are identical compared to the recommendation for female breast cancer. [Copyright &y& Elsevier]

Published
2002
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13. BRCA2 germline mutation in a woman with uterine serous papillary carcinoma—Case report

Author

Lavie, Ofer, Ben-Arie, Alon, Pilip, Adalbert, Rennert, Gad, Cohen, Yoram, Feiner, Beni, and Auslnader, Ron

Subjects
*BREAST cancer, *CANCER patients, *GENEALOGY, *GENETIC mutation
Abstract

Abstract: Background.: Recently, a high incidence of BRCA1 cancer predisposing mutation was described among patients with Uterine Serous Papillary Carcinoma (USPC). A BRCA2 germline mutation in a USPC patient has never been reported. Case.: A 65-year-old Ashkenazi Jewish woman was diagnosed with USPC Stage III A. The patient family history included a mother with ovarian carcinoma, a maternal aunt who had breast carcinoma that was diagnosed at an early age, an additional maternal aunt who suffered from gastric carcinoma, and the patient''s sister who had duodenal carcinoma. The patient was found to be a carrier of the germline BRCA2 cancer predisposing mutation (6174delT). Conclusions.: We report the first case of a BRCA2 mutation in a USPC patient. A strong family history of breast and ovarian cancer with the presence of the BRCA2 germline mutation is an additional hint for the possible association between BRCA cancer predisposing mutations and USPC. [Copyright &y& Elsevier]

Published
2005
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14. BRCA-1 ve BRCA-2 sık görülen nokta mutasyonlarının bölgemizde görülme sıklığı

Author

Hamidi, Arif, Büyükbayram, Hüseyin, Dicle Üniversitesi, Tıp Fakültesi, Patoloji Anabilim Dalı, Hamidi, Arif, and Patoloji Anabilim Dalı

Subjects
BRCA-1, Point mutation, Diyarbakır, BRCA-2, Polymerase chain reaction, Meme kanseri, Breast cancer, Genes, Neoplasms, Mutation, Pathology, Patoloji, Breast neoplasms, Nokta mutasyon
Abstract

Dünya sağlık örgütünün verilerine göre meme kanseri dünyada kadınlar arasında en sık görülen malign tümör olup, tüm kadın kanserlerinin yaklaşık %25'ini oluşturmaktadır. Meme kanseri kadınlarda %14.7 ile ölüme en sık neden olan kanser tipidir. Her yaş grubunda görülebilmesine karşın genç yaşta ailesel olguların dışında nadir olarak görülmektedir. BRCA 1, 2 mutasyonları, nokta mutasyonlarından dolayı oluşan meme kanserlerinin çoğunluğunu ve genel meme kanserlerinin %3'ünden sorumlu tutulmaktadır. BRCA 1 ve BRCA 2 genlerinde kodlama bölgeleri boyunca dağılan yüzlerce farklı mutasyon bildirilmiştir. Bu mutasyonların belirlenmesinde bir çok metod kullanılmaktadır. Bunlardan biri de Real-time PCR yöntemidir. Araştırmamızda Diyarbakır Dicle Üniversitesi Tıp fakültesi Patoloji Anabilim Dalında genç yaş (42 yaş altı) grubu kadınlarda meme kanseri tanısı almış 96 adet hasta değerlendirildi. Bu hastalara ait yaş, tümör lokalizasyonu, grade, ER, PR, HER-2 reseptör durumu ve rezeksiyon materyallerinde tümör çapı gibi parametreler değerlendirildi. Bu hastaların biyopsi ve rezeksiyon dokularına ait materyallerden elde edilen tümör dokularında, meme kanserinde sık olarak tespit edilen BRCA 1 (rs80357713, rs80357906, rs28897672) ve BRCA 2 (rs80359550) genlerine ait nokta mutasyonlarının bölgemizdeki sıklığını PCR özgül belirleme grubundan Hibridizasyon Prob Yöntemiyle "LightCycler" PCR cihazı kullanılarak belirlemeyi amaçladık. Çalışmamızda elde ettiğimiz verilere göre 96 olgumuzdan sadece bir tanesinde BRCA 1 genine ait rs80357906 [5382insC] nokta mutasyonu saptadık. Bu sayı istatistiksel analizler için oldukça yetersiz bulunmuştur. Çalışmamızdaki olgu sayısı 96'dır. Literatürde yapılan çalışmalarla karşılaştırıldığında olgu sayımız oldukça azdır. Çalışmada heterojen bir hasta grubumuz vardı. Belirli bir histolojik tip veya moleküler alt tip ve spesifik gruplar belirlenip buna uygun olgu seçimi yapılarak çalışmanın tekrarlanması durumunda daha farklı sonuçlara ulaşılabileceği kanısındayız. Anahtar Kelimeler: BRCA-1; BRCA-2; meme kanseri; nokta mutasyon According to the World Health Organization, breast cancer is the most common malignant tumor among women in the world, accounts for approximately 25% of all female cancers. A breast cancer is a cancer type which is the most common cause of death in women with accounting for 14.7%. Its incidence increases with age. Even though breast cancer can be seen in all age groups, yet the familial cases usually seen at an early age. The etiology of breast cancer is multifactorial due to biological and clinical heterogeneity. BRCA 1,2 mutations account for the majority of the breast cancers caused by the point mutations, and for 3% of the general breast cancers. Hundreds of different mutations distributed throughout the coding regions in BRCA 1 and BRCA 2 genes have been reported. Many methods are used to identify these mutations. One of them is the real-time PCR. In our study, we aimed to detect common mutations identified in women with breast cancer at young age (below 42 years old) who evaluated parameters such as ER, PR, HER 2, age, tumor localization, tumor diamater and grade presented to Diyarbakir Dicle University Department of Pathology and using "LightCycler" PCR machine by Roche with Hybdidization Probe Method from PCR SPecific determination group in order to identify common mutations including BRCA 1 (rs80357713, rs80357906, rs28897672) ve BRCA 2 (rs80359550). According to our data, out of 96 cases we detected only one rs80357906 [5382insc] point mutations related to BRCA 1 gene family. This number has been quite insufficient for statistical analysis. The number of patients in this study was 96. Compared with studies in the literature, the number of our cases is quite small. We had a heterogeneous group of patients in the study. We beleive would have been possible to achieve to different results with repetition of study by choosing a particular histological type or molecular subtypes or specific groups of patients. Key words: BRCA-1; BRCA-2; point mutation; breast cancer Bu çalışma maddi olarak “Dicle Üniversitesi Bilimsel Araştırma Proje Koordinatörlüğü (DÜBAP) tarafından (TIP.15.017 no lu proje) proje numarasıyla desteklenmiştir.

Published
2016

15. Meme kanserinde BRCA-1 ve BRCA-2’de sık görülen nokta mutasyonların (polimorfizm) bölgemizde görülme sıklığı

Author

Akkuzu, Mustafa Zanyar, Küçüköner, Mehmet, Dicle Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, TR185942, Akkuzu, Mustafa Zanyar, and İç Hastalıkları Anabilim Dalı

Subjects
BRCA-1, Point mutation, BRCA-2, Polimorfizm, Onkoloji, Polymerase chain reaction, Meme kanseri, Breast cancer, Oncology, Genes, Neoplasms, Mutation, Breast neoplasms, Polymorphism, Nokta mutasyon, Polymorphism-genetic, LightCycler PCR
Abstract

Giriş ve Amaç: Meme kanseri dünyada kadınlar arasında en sık görülen malign tümör olup, tüm kadın kanserlerinin yaklaşık %25’ini oluşturmaktadır. Her yaş grubunda görülebilmesine karşın genç yaşta ailesel olguların dışında nadir olarak görülmektedir. BRCA 1, 2 mutasyonları, nokta mutasyonlarından dolayı oluşan meme kanserlerinin çoğunluğunu ve genel meme kanserlerinin %3’ünden sorumlu tutulmaktadır. BRCA 1 ve BRCA 2 genlerinde kodlama bölgeleri boyunca dağılan yüzlerce farklı mutasyon bildirilmiştir. Biz çalışmamızda meme kanserinde genetik yatkınlığı belirlemek için sık olarak tespit edilen BRCA 1 (rs16942, rs1799966) ve BRCA 2 (rs144848, rs1799944) genlerine ait polimorfik nokta mutasyonlarının bölgemizdeki sıklığını PCR özgül belirleme grubundan Hibridizasyon Prob Yöntemiyle “LightCycler” PCR cihazı kullanılarak belirlemeyi ve bu mutasyon oranlarının ER pozitifliği, HER 2 durumu, Evre , Grade ve yaş ile ilişkili olup olmadığını saptamayı amaçladık. Materyal ve Metod: Araştırmamızda Dicle Üniversitesi Tıp fakültesi Onkoloji Bilim Dalında genç yaş (44 yaş altı) grubu kadınlarda meme kanseri tanısı almış 96 adet hasta çalışmaya alındı. Parafine gömülü tümör dokulardan genomik DNA izolasyonu yapıldı ve DNA saflığı ile konsantrasyonu yapıldı. Sonra bu tüplerden BRCA 1 ve BRCA 2 genlerindeki polimorfizm mutasyonları Real-Time PCR ile belirlendi. Ülkemizde yapılmış çalışmalardan en sık saptanmış olan 4 nokta mutsayonu çalışmada değerlendirildi. Bu hastalara ait yaş, grade, ER, HER- 2 reseptör durumu ve Evre gibi parametreler çıkarıldı. SPSS 21.0 bilgisayar programı kullanılarak çalışmanın istatiksel değerlendirilmesi yapıldı. p≤0.05 istatiksel olarak anlamlı kabul edildi. Bulgular: Çalışmamızda elde ettiğimiz verilere göre 96 olgumuzdan BRCA 1 genine ait rs16942 de 14 (%14.5) adet homozigot (GG), 55 (%57.3) adet heterozigot (AG); rs1799966 da 18 (%18.75) adet homozigot (GG) 46 (%47.9) adet heterozigot (AG); BRCA 2 genine ait rs144848 de 9 (%9.37) adet homozigot (TT), 25 (%26.04) adet heterozigot (GT); rs1799944 de 2 (%2.08) adet homozigot (GG), 3 (%3.12) adet heterozigot (AG) hastada nokta mutasyonu saptadık. Bu oranların ülkemizin diğer bölgelerinde yapılmış çalışma oranlarından biraz yüksek olduğu görüldü. Bu nokta mutasyonları ile; Grade ilişkisi karşılaştırıldığında ortalama p değeri 0.464, ER pozitifliği ile karşılaştırıldığında ortalama p değeri 0.647, .HER 2 pozitifliği ile karşılaştırıldığında ortalama p değeri 0.833, 35 yaş üstü hastalarla kıyaslandığında ise ortalama p değeri 0.358 olarak bulundu. Sonuç: Bölgemizde BRCA 1-2 deki polimorfizm mutasyon oranları yüksek sıklıkta görülmektedir. Bu nedenle de bölgemiz de erken yaşta meme kanser li vakalara ve aile bireylerine genetik taramaların yapılması gereklidir. Anahtar Kelimeler: BRCA-1; BRCA-2; meme kanseri; nokta mutasyon, polimorfizm, LightCycler PCR Introduction: Breast cancer, the most frequent malign tumor in the world, constitutes approximately 25% of all women cancers. Although it can be seen in all age groups, breast cancer, except familial cases rarely seen at an early age. BRCA 1,2 mutations are held responsible for the most of breast cancers, develop due to point mutations and 3% of overall breast cancers. Hundreds of different mutations are reported in BRCA 1 and BRCA 2 genes spreading throughout the decoding zones.In our research, we aim to designate the frequency of polymorphic point mutations belonging to BRCA 1 (rs16942, rs1799966) and BRCA 2 (rs144848, rs1799944) genes in our region , ascertained frequently, in order to identify genetic susceptibility in breast cancer by using the "LightCycler" PRC device with the method of Hibridization Prob from the group of PRC specific identification and determine the relationship of those mutation rates with ER positive, the state of HER 2 , stage, grade and age. Materials and Method: In our research 96 patients, diagnosed breast cancer among the young women group (under the age of 44) are taken to the study in Diyarbakır Dicle University, Faculty of Medicine -Departman of Oncology. Genomic DNA isolation from the the paraffin-embedded tumor tissues is done and DNA purity and concentarion is held. Then polymorphism mutations in BRCA 1 and BRCA 2 genes from those test tubes are defined with Real -Time PRC. Four points mutation , the most frequent one which is confirmed in researches in our country is evaluated in our research. Some parameters are assigned as age, grade, ER, the state of HER 2 and stage belongig to those patients. Statistical evaluation of the reseach is practiced by using SPSS 21.0 computer programme. p≤0.05 is accepted meaningful statistically. Results: According to the data aquired from our study we found out 14(14,5%) homozygotes (GG), 55(57,3%) heterozygotes(AG) in rs16942; 18(18,75%) homozygotes(GG), 46(47,9%)heterozygotes (AG) in rs1799966 belong to BRCA1 gene; 9(9,37%) homozygotes (TT), 25(26,04%) heterozygotes (GT) in rs144848; 2(2,08%) homozygotes (GG), 3(3,12%) heterozygotes (AG) in rs1799944 belong to BRCA 2 gene, point muations among the patients out of 96 cases. These rates are higher than the study rates made in other regions in our country. It is found out that when comparing point mutations and Grade relation, aproximate p value is 0.464 , when comparing point mutations and ER positiveness aproximate p value is 0.647 and when comparing point mutations and HER 2 positiveness p value is 0.358. Conclusion: In our region the rate of polymorphism mutations in BRCA 1-2 is seen in high-frequency. For this reason it is essential to make a genetic screening to the early aged-cancerous patients and their family members. Key Words: BRCA-1 BRCA-2; breast cancer; point mutation, polymorphism, LightCycler PCR.

Published
2016

16. ODA - MMT (octadecly amine - montmorillonite), DMA - MMT ( dimethyldidodecyl ammonium - montmorillonite) S-1-DODECYL-S-( a - DIMETHYL-a acetic acid) trithiocarbonate gibi polimerlerin MCF - 7 hücre hattında BRCA-1, BRCA-2 VE KASPAZ 3 gen ekspresyonları üzerine etkisi

Author

Ural, Serap, Türk, Mustafa, and Kırıkkale Üniversitesi, Sosyal Bilimler Enstitüsü, Kamu Hukuku Ana Bilim Dalı

Subjects
Apoptoz, BRCA-1, YL-FBE/2087, BRCA-2, RT-PCR, MCF-7, KASPAZ-3
Abstract

Tez (Yüksek Lisans) -- Kırıkkale Üniversitesi 100367 …

Published
2014

18. Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling

Author

Generoso Bevilacqua, Grazia Lombardi, Caterina Condello, Ilaria Spagnoletti, Stefano Pepe, Matilde Pensabene, Ma Caligo, A. Contegiacomo, I. Capuano, Pensabene, Matilde, Spagnoletti, Ilaria, Capuano, Ida, C., Condello, Pepe, Stefano, Contegiacomo, Alma, Lombardi, Gaetano, G., Bevilacqua, and M. A. C. a. l. i. g., O.

Subjects
DNA Mutational Analysis, BRCA-2, Breast Neoplasms, Genetic Counseling, Biology, Risk Assessment, Exon, Germline mutation, Humans, Genetic Predisposition to Disease, Genetic Testing, Gene, Germ-Line Mutation, Genetics, BRCA2 Protein, Ovarian Neoplasms, Splice site mutation, BRCA1 Protein, Intron, Hematology, Exons, Middle Aged, Prognosis, mutations, oncogenetic counseling, Stop codon, Pedigree, Gene Expression Regulation, Neoplastic, brast cancer, Phenotype, Oncology, RNA splicing, Cancer research, Female, RNA Splice Sites, Apoptosis Regulatory Proteins
Abstract

Background Although most BRCA sequence variants are clearly deleterious and unequivocally pathogenetic, several are still classified as variants of unknown significance. Patients and methods We followed families undergoing oncogenetic counseling from risk identification to risk definition by genetic testing and risk management. Results We identified two germline mutations in the BRCA2 gene in a woman with breast and ovarian cancer. One sequence alteration was 859/G>A in exon 7 (V211I). The other second sequence alteration (IVS13-2A>T) affected the splicing site in intron 13. The latter alteration is not yet listed in the Breast Cancer Information Core database. RT–PCR resulted in transcription of a sequence lacking exon 7 and a subsequent anomalous stop codon in exon 9 thereby confirming altered messenger RNA (mRNA) maturation. Amplification of the mutation in intron 13 resulted in transcription of a sequence lacking exon 14 and an anomalous stop codon in exon 15 thereby confirming altered mRNA maturation. Both mutations led to a truncated BRCA2 protein in its carboxy-terminal region. Conclusion The two BRCA2 mutations identified affect mRNA splicing fidelity and play a pathogenetic role in breast and ovarian cancer.

Published
2009

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