scholarly journals Case series: Breast and ovarian cancer syndrome

2016 ◽  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca Mutation ◽  
Family Members ◽  
Case Series ◽  
Second Primary ◽  
Time Interval ◽  
Breast And Ovarian Cancer ◽  
Ovarian Carcinomas ◽  
Increased Risk

Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

scholarly journals Case series: Breast and ovarian cancer syndrome

2016 ◽  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family Members ◽  
Case Series ◽  
Second Primary ◽  
Time Interval ◽  
Breast And Ovarian Cancer ◽  
Ovarian Carcinomas ◽  
Increased Risk ◽  
Brca 1

Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1, 2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA 1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

scholarly journals A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

2021 ◽  
Vol 22 (2) ◽  
pp. 889
Author(s):  
Ava Kwong ◽  
Cecilia Y. S. Ho ◽  
Vivian Y. Shin ◽  
Chun Hang Au ◽  
Tsun Leung Chan ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Brca1 Gene ◽  
Pathogenic Mutation ◽  
Compound Heterozygous ◽  
Strong Family History ◽  
Breast And Ovarian Cancer ◽  
Pathogenic Mutations ◽  
Increased Risk ◽  
History Of

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.

scholarly journals A case series of sporadic breast and ovarian cancers in Salentinian families with BRCA mutation-associated Hereditary Breast and Ovarian Cancer (HBOC) syndrome

2016 ◽  
Vol 27 ◽  
pp. iv67
Author(s):  
E. De Matteis ◽  
M.R. De Giorgio ◽  
P. Tarantino ◽  
G. Ronzino ◽  
M. Ciccarese ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca Mutation ◽  
Case Series ◽  
Breast And Ovarian Cancer ◽  
Ovarian Cancers

scholarly journals Synchronous and Metachronous Breast and Ovarian Cancer: Experience From Two Large Cancer Center

2020 ◽  
Vol 10 ◽  
Author(s):  
Giulia Tasca ◽  
Maria Vittoria Dieci ◽  
Zora Baretta ◽  
Giovanni Faggioni ◽  
Marco Montagna ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Cancer Diagnosis ◽  
Cancer Center ◽  
Time Interval ◽  
Breast And Ovarian Cancer ◽  
Pathological Characteristics ◽  
Surveillance Programs ◽  
Cancer Experience

PurposeWe aimed to evaluate the clinico-pathological characteristics and survival outcomes of patients with synchronous or metachronous breast cancer (BC) and ovarian cancer (OC).Materials and MethodsPatients with synchronous or metachronous BC and OC were retrospectively identified at two large cancer centers. Clinico-pathological characteristics, BRCA1/2 status and follow-up data were gathered. Patients were classified according to the first cancer diagnosis in the following groups: Breast Cancer first, Ovarian Cancer first, Synchronous Breast and Ovarian Cancer. Overall survival (OS) was calculated as the time interval between each cancer diagnosis to death or last follow-up.ResultsOverall, 270 patients were included: n = 194 (72%) in BC first group, n = 51 (19%) in OC first, and n = 25 (9%) in synchronous. BRCA status was available for 182 (67.4%) patients and 112 (62%) harbored pathogenetic mutations. BC first group included more frequently patients with BRCA mutation, triple negative BC phenotype and more aggressive OC features. Median time between the two diagnosis was longer in BC first group vs OC first group (95 vs 68 months, p = 0.021). A total of 105 OS events occurred, mostly related to OC (70.5%). We observed no differences in terms of OS according to the first cancer diagnosis. Age >50 years and advanced OC stage were negative independent prognostic factors for OS from the first diagnosis.ConclusionsIn this cohort of patients with BC and OC, survival was dominated by OC related mortality. These data may be useful to plan and carry out adequate and timely surveillance programs and preventive measures.

Sarcoidosis as a paraneoplastic syndrome for breast cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e12587-e12587
Author(s):  
Pamela Barletta ◽  
Mukunthan Murthi ◽  
Douglas Salguero ◽  
Mehdi Mirsaeidi
Keyword(s):  
Breast Cancer ◽  
Cancer Diagnosis ◽  
Case Series ◽  
Breast Cancer Diagnosis ◽  
Pulmonary Sarcoidosis ◽  
Unknown Etiology ◽  
Time Interval ◽  
Case Series Study ◽  
Increased Risk ◽  
Study Population

e12587 Background: Sarcoidosis is a multisystem granulomatous disease of unknown etiology. The pathogenesis of sarcoidosis is believed to be a result from a cellular immune reaction from exposure to occupational, environmental, or infectious elements that lead to the formation of noncaseating granulomas. Non-caseating granulomas are also present in cancer , and it is well known that the cancer cells carry neo-antigens, leading to a possible association between cancer and sarcoidosis. Several studies have shown an increased risk of breast cancer , in particular, in patients with sarcoidosis, but only a few studies have analyzed the incidence of sarcoidosis following breast cancer diagnosis. The present study aimed to identify patients with sarcoidosis following a diagnosis of breast cancer in our cohort of sarcoidosis. Methods: This is a retrospective case-series study between 2008-2018 of patients with sarcoidosis in the University of Miami Sarcoidosis Program. Sarcoidosis was defined per the World Association for Sarcoidosis and other Granulomatous Disorders guidelines. Breast cancer diagnosis was confirmed through pathology. We collected demographic data of age, gender, ethnicity and the time between diagnosis of breast cancer and sarcoidosis by chart review. Clincial data including clinical manifestations, laboratories, staging, and treatment were also collected. Results: Among 125 patients in our registry, 26 patients had a diagnosis of both cancer and sarcoidosis. In this, 12 (46%) developed sarcoidosis after the diagnosis of breast cancer and are the study population. Among them, 12(100%) were female. The most common ethnic group in the study population was European American with 8(67%) followed by African Americans 2(16.7%) and Hispanic 2(16.7%). Eight (67%) patients were treated with chemotherapy, 7(58%) with radiotherapy, of this, 6 (50%) received both. Mean (SD) age of onset of sarcoidosis was 61.9 ( 10.8) years . The mean time interval between breast cancer diagnosis and the onset of sarcoidosis was 5.58 ( 5.24) years ( (see Figure 1). Nine (75%) had pulmonary sarcoidosis and 3(25%) cardiac sarcoidosis. Among the subjects with pulmonary sarcoidosis 1(11.1%) had Stage 4, 4(44.4%) had Stage 2 and 4(44.4%) had stage 1. Conclusions: Our findings suggest sarcoidosis may be a paraneoplastic characteristic of breast cancer. The mechanism of granuloma development remains unclear. Cancer mediated immune dysregulation could be a potential contributing factor. Further studies are warranted to establish a definitive association.

Clinicopathological features of patients with ovarian and breast cancer with BRCA mutation.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13524-e13524
Author(s):  
Metin Ozkan ◽  
Sedat Tarık Fırat ◽  
Ramazan Coşar ◽  
Oktay Bozkurt ◽  
Mevlude Inanc ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Germ Cell ◽  
Triple Negative ◽  
Brca Mutation ◽  
Brca1 Mutation ◽  
Germ Cell Tumors ◽  
Serous Carcinoma ◽  
Breast And Ovarian Cancer ◽  
Stage 4

e13524 Background: Breast cancer is the most common cancer and the leading cause of cancer death in women. Ovarian cancer contributes significantly to mortality and morbidity rates. BRCA1 and BRCA2 are the best known genes associated with breast and ovarian cancer, which are important in DNA repair and transcriptional regulation. Methods: In this study, we retrospectively analyzed the clinicopathological features of breast and ovarian cancer patients who were found to have BRCA 1/2 mutations in Erciyes University Medical Oncology between 2009-2019. Results: BRCA mutation was detected in 14 patients with breast cancer and 10 patients with ovarian cancer. The median age of patients with breast cancer was 41 (25-67). Of 14 BRCA mutated patients, 9 (64 %) patients had BRCA2 mutations while 5 (36 %) patients had BRCA1 mutations. All patients had invasive ductal carcinoma. Of 14 patients, 7 patients were grade 3, 6 patients were grade 2, 1 patient was grade 1. At the time of diagnosis, 5 of 14 patients were stage 3 and 5 patients were stage 4. 4 (80%) of 5 patients with stage 4 had BRCA 2 mutation. 5 of 10 patients who received adjuvant therapy after surgery had 4 or more lymph node metastases. Hormone receptor positive / HER2 negative disease was the most common molecular subgroup (8/14, 57%). Five patients were triple negative histology. 4 (80%) of triple negative patients had BRCA1 mutation. Ovarian cancer developed in 2 of 14 patients who had breast cancer with BRCA mutation. Median age of patients with ovarian cancer with BRCA mutation was 52.5 (19-67). 2 of 10 patients with ovarian cancer had germ cell tumors and 8 had epithelial serous carcinoma. Of 10 BRCA mutated patients, 7 (70 %) patients had BRCA2 mutations while 3 (30 %) patients had BRCA1 mutations. Both patients with germ cell tumors were stage 1 at the time of diagnosis, 7 of the patients with epithelial serous carcinoma were stage 3, and 1 was stage 2. While patients with germ cell tumors were followed without recurrence, 6 patients with epithelial serous carcinoma developed recurrence, and all of these patients were platinum sensitive. Breast cancer developed in 1 patient with BRCA1 mutation at follow-up. All patients were alive according to the last control date. Median DFS was 29 months. Conclusions: BRCA-related breast cancer is characterized by a more aggressive phenotype than sporadic breast cancer, BRCA1-associated breast cancer is more frequently high-grade and triple negative histology. BRCA-related ovarian cancer is more sensitive to treatment, especially platinum-based chemotherapy, and is associated with improved prognosis.

scholarly journals Single-nucleotide polymorphisms of the ATM gene, which form a predisposition to breast and ovarian cancer in a population sample of the Chechen Republic

2020 ◽  
pp. 36-37
Author(s):  
З.И. Бисултанова ◽  
П.М. Джамбетова
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Population Sample ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Breast And Ovarian Cancer ◽  
Allele Polymorphism ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Atm Gene

Были изучены два критических полиморфизма гена ATM, (rs664143 (A>G) и rs189037 (G> A) в выборке из 214 пациентов с раком молочной железы (РМЖ) и раком яичников (РЯ) и 389 женщин контрольной группы (≤45 лет), относящихся к чеченской популяции. Генотипирование выполнено методом ПЦР-анализа. Анализ сопряженности аллельных вариантов гена ATM c риском развития РМЖ и РЯ показал повышенный риск развития РЯ в случае носительства аллеля G полиморфизма rs189037, однако с РМЖ достоверных ассоциаций не выявлено. Two critical polymorphisms of the ATM gene, (rs664143 (A> G) and rs189037 (G> A), were studied in a sample of 214 patients with breast cancer and ovarian cancer and 389 women in the control group (≤45 years old) belonging to the Chechen population. An analysis of the conjugation of allelic variants of the ATM gene with a risk of developing breast and ovarian cancer showed an increased risk of developing ovarian cancer in case of carriage of the G allele polymorphism rs189037, but no reliable associations were found with breast cancer).

Use of the electronic medical record (EMR) to identify women at increased risk for hereditary breast and ovarian cancer (HBOC).

2013 ◽  
Vol 31 (31_suppl) ◽  
pp. 236-236
Author(s):  
Hilary B. Kershberg ◽  
Monica Alvarado ◽  
Jaime L. Natoli ◽  
Emily Parkhurst ◽  
Hui Zhou ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Cancer Susceptibility ◽  
Brca Mutation ◽  
Phone Call ◽  
Brca Testing ◽  
Degree Relative ◽  
Clinical Genetic ◽  
Increased Risk

236 Background: Diagnosis of breast cancer at a young age is an indication for genetic counseling and possible BRCA testing. However, not all women with this early diagnosis are referred for genetic counseling, especially if they do not have a family history of breast or ovarian cancer. Methods: The genetics department in Kaiser Permanente Southern California (KPSC) provides clinical genetic services in an integrated health care system serving over 3.6 million members. Using data from the KPSC tumor registry, the KPSC EMR system, and a departmental cancer test results database, we identified 454 women diagnosed with early breast cancer (<46 years) between September 2005 and September 2010 who had not received genetic counseling. We contacted these women with a letter and/or phone call offering a genetics consultation, and we offered BRCA testing to all those who came for counseling. Results: 142 women (31%) came in for genetic counseling, and 312 women (69%) declined, did not keep their appointment, or never responded. Hispanics were more likely to schedule and keep an appointment than Caucasians (OR=1.35, 95% CI, 0.79-2.31), although this was not statistically significant. Of those who came in for counseling, African Americans were significantly less likely to accept genetic testing than Caucasians (OR=0.31, 95% CI, 0.10-0.98).Of the 142 patients who were counseled, 122 (86%) accepted testing. We identified 6 patients (5%) who were positive for a deleterious BRCA mutation and 6 patients (5%) who had a variant of uncertain significance. Of the 6 women with deleterious mutations, only 1 had a first-degree relative with breast or ovarian cancer, and 4 had mutation probabilities <10%. Conclusions: This project demonstrates how an integrated care approach and EMR system provide an opportunity to identify and contact women who are at increased risk for inherited cancer susceptibility.

Effectiveness of Risk-Reducing Salpingo-Oophorectomy in Preventing Ovarian Cancer in a High-Risk French Canadian Population

2012 ◽  
Vol 22 (6) ◽  
pp. 974-978 ◽  
Author(s):  
Omar Moreira Bacha ◽  
Jean Gregoire ◽  
Katherine Grondin ◽  
Maria Isabel Edelweiss ◽  
Rachel Laframboise ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
High Risk ◽  
Fallopian Tube ◽  
French Canadian ◽  
Breast And Ovarian Cancer ◽  
Surgical Morbidity ◽  
Canadian Population ◽  
Increased Risk ◽  
Risk Reducing

BackgroundWomen with germ line BRCA1 or BRCA2 mutations have a marked increased risk of breast and ovarian cancer compared with the general population, whereas risk-reducing salpingo-oophorectomy (RRSO) significantly lowers the incidence of these cancers. The objective of this study was to review the clinical and pathological characteristics of a French Canadian population undergoing RRSO. Surgical morbidity was also evaluated.Materials and MethodsFrom December 1999 to December 2009, all women who underwent RRSO at our institution were identified. Medical records were retrospectively reviewed. Descriptive statistics, the Fischer exact test, and the Student t test were used for analysis.ResultsDuring the study period, RRSO was performed on 119 women. Mean age at surgery was 49 years (35–72 years), and 63 patients (53%) were premenopausal. Sixty-two women (52%) had a history of in situ or invasive breast cancer. BRCA1 and BRCA2 mutations were present in 34 patients (29%) and 42 patients (35%), respectively, whereas 43 patients (36%) were considered to have an increased risk of breast and ovarian cancer, despite a personal genetic test, which was either negative (n = 23) or unknown because the patient declined genetic testing (n = 20). Most patients with a uterus in place had a complementary hysterectomy (65%). Six complications occurred (3 hematomas, 2 cardiac arrhythmias, and 1 cystotomy). In one patient (0.8%), a high-grade stage II ovarian cancer was discovered at the time of surgery. Fallopian tube atypias were identified on final pathology in 8 cases (6.7%). After a median follow-up of 22 months, 4 women (3.4%) developed breast cancer and one woman (0.8%) developed peritoneal cancer.ConclusionsRisk-reducing salpingo-oophorectomy is highly effective in preventing ovarian, fallopian tube, and breast cancers in a high-risk French Canadian population; and the surgical morbidity is low.

scholarly journals CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

Cancers ◽  
2022 ◽  
Vol 14 (2) ◽  
pp. 353
Author(s):  
Jordi Minguillón ◽  
María José Ramírez ◽  
Llorenç Rovirosa ◽  
Pilar Bustamante-Madrid ◽  
Cristina Camps-Fajol ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Dna Damage ◽  
Dna Repair ◽  
Homologous Recombination ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Increased Risk

BRCA2 is essential for homologous recombination DNA repair. BRCA2 mutations lead to genome instability and increased risk of breast and ovarian cancer. Similarly, mutations in BRCA2-interacting proteins are also known to modulate sensitivity to DNA damage agents and are established cancer risk factors. Here we identify the tumor suppressor CDK5RAP3 as a novel BRCA2 helical domain-interacting protein. CDK5RAP3 depletion induced DNA damage resistance, homologous recombination and single-strand annealing upregulation, and reduced spontaneous and DNA damage-induced genomic instability, suggesting that CDK5RAP3 negatively regulates double-strand break repair in the S-phase. Consistent with this cellular phenotype, analysis of transcriptomic data revealed an association between low CDK5RAP3 tumor expression and poor survival of breast cancer patients. Finally, we identified common genetic variations in the CDK5RAP3 locus as potentially associated with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Our results uncover CDK5RAP3 as a critical player in DNA repair and breast cancer outcomes.

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