scholarly journals EPITHELIAL OVARIAN CANCER;

2012 ◽  
Vol 19 (01) ◽  
pp. 040-045
Author(s):  
SARAH SAEED ◽  
MOHAMMAD AKRAM
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Epithelial Ovarian Cancer ◽  
Positive Family History ◽  
Striking Feature ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
University Of Toronto ◽  
Number Of Patients ◽  
History Of

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

Identifying genomic rearrangements in BRCA1 and BRCA2 in high-risk individuals for hereditary breast and ovarian cancer.

2011 ◽  
Vol 29 (27_suppl) ◽  
pp. 163-163 ◽  
Author(s):  
M. Jackson ◽  
D. Mattair ◽  
H. Lin ◽  
A. M. Gutierrez-Barrera ◽  
N. Elsayegh ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Large Scale ◽  
Cancer Center ◽  
Tumor Characteristics ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Patient Request ◽  
History Of

163 Background: Germline mutations in the BRCA1 and BRCA2 genes are responsible for the majority of hereditary breast and ovarian cancer (HBOC). Comprehensive gene sequencing detects ~87% of BRCA mutations, and large genomic rearrangement testing (BART) accounts for ~3%. Criteria have been established to capture individuals who most likely have a BART mutation, however, recent data shows that some individuals have BART mutations and do not meet the criteria. We conducted a single-institution study to evaluate the sufficiency of BART criteria to determine if new criteria are warranted. Methods: During 2006-2008, 172 individuals underwent BRCA sequencing and BART at M. D. Anderson Cancer Center. A retrospective, IRB-approved chart review of a prospectively maintained database was conducted to determine BART criteria eligibility, personal/family history of breast and ovarian cancer and tumor characteristics. Univariate and multivariate analysis was performed to test the significance of each variable in relation to BRCA1/BRCA2 positivity. Results: Of 172 individuals, 12/34 (35%) had BRCA1 BART mutations, and 7/11 (64%) had BRCA2 BART mutations. Of the 19 individuals who tested positive for BART mutations, only 8 (42%) met BART criteria and 11 (58%) did not and proceeded with BART for various reasons (family history, insurance covered, and patient request). Individuals who were BRCA1 positive (sequencing or BART) were more likely to have ER/PR negative breast cancer (p<0.0001) and a personal (p=0.0215)/family history of ovarian cancer (p=0.0001) compared to non-carriers and individuals who had no family history Individuals who were BRCA1 sequencing positive were more likely to meet BART criteria than BRCA1 BART positive (p=0.0151) individuals. Conclusions: Given that no significant differences in family history/tumor characteristics between individuals who have sequencing and BART mutations were identified, and a majority of individuals who were BART positive do not meet BART criteria, it appears that these criteria may be insufficient. BART testing should be considered for all individuals who undergo BRCA sequencing; however, large scale collaboration studies should be conducted.

scholarly journals Prevalence of BRCA1 and BRCA2 Mutations Among Patients With Ovarian, Primary Peritoneal, and Fallopian Tube Cancer in India: A Multicenter Cross-Sectional Study

2021 ◽  
pp. 849-861
Author(s):  
Sudeep Gupta ◽  
Senthil Rajappa ◽  
Suresh Advani ◽  
Amit Agarwal ◽  
Shyam Aggarwal ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Newly Diagnosed ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Fallopian Tube Cancer ◽  
Cross Sectional ◽  
Brca2 Mutations ◽  
Brca1 Brca2

PURPOSE There are deficient data on prevalence of germline mutations in breast cancer susceptibility genes 1 and 2 ( BRCA1/ BRCA2) in Indian patients with ovarian cancer who are not selected by clinical features. METHODS This prospective, cross-sectional, noninterventional study in nine Indian centers included patients with newly diagnosed or relapsed epithelial ovarian, primary peritoneal, or fallopian tube cancer. The primary objective was to assess the prevalence of BRCA1/ BRCA2 mutations, and the secondary objective was to correlate BRCA1/ BRCA2 status with clinicopathologic characteristics. Mutation testing was performed by a standard next-generation sequencing assay. RESULTS Between March 2018 and December 2018, 239 patients with a median age of 53.0 (range, 23.0-86.0 years) years were included, of whom 203 (84.9%) had newly diagnosed disease, 36 (15.1%) had family history of ovarian or breast cancer, and 159 (66.5%) had serous subtype of epithelial ovarian cancer. Germline pathogenic or likely pathogenic mutations in BRCA1 and BRCA2 were detected in 37 (15.5%; 95% CI, 11.1 to 20.7) and 14 (5.9%; 95% CI, 3.2 to 9.6) patients, respectively, whereas variants of uncertain significance in these genes were seen in four (1.7%; 95% CI, 0.5 to 4.2) and six (2.5%; 95% CI, 0.9 to 5.4) patients, respectively. The prevalence of pathogenic or likely pathogenic BRCA mutations in patients with serous versus nonserous tumors, with versus without relevant family history, and ≤ 50 years versus > 50 years, were 40 of 159 (25.2%; 95% CI, 18.6 to 32.6) versus 11 of 80 (13.8%; 95% CI, 7.1 to 23.3; P = .0636), 20 of 36 (55.6%; 95% CI, 38.1 to 72.1) versus 41 of 203 (20.2%; 95% CI, 14.9 to 26.4; P < .0001), and 20 of 90 (22.2%; 95% CI, 14.1 to 32.2) versus 31 of 149 (20.8%; 95% CI, 14.6 to 28.2; P = .7956), respectively. CONCLUSION There is a high prevalence of pathogenic or likely pathogenic germline BRCA mutations in Indian patients with ovarian cancer.

scholarly journals Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Joaira Bakkach ◽  
Mohamed Mansouri ◽  
Touria Derkaoui ◽  
Ali Loudiyi ◽  
ElMostafa El Fahime ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Early Onset ◽  
Brca2 Gene ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Early Onset Breast Cancer ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
History Of

Abstract Background To date, the contribution of BRCA1/2 mutations in Moroccan early onset breast cancer patients remains unknown. Here we assess these genetic alterations for the first time in a cohort from North of Morocco. Methods Thirty-three patients diagnosed with breast cancer at the age of ≤40 years were recruited irrespective of breast and/or ovarian cancer family history. Coding regions and intron-exon boundaries of BRCA1 and BRCA2 genes were sequenced from peripheral blood DNA using Ion Proton (Thermo Fisher Scientific) next generation sequencing platform. Results Overall, five BRCA germline mutations were identified (15.1%). The frequency of mutations among patients with family history of breast cancer was 16.7%. Three mutations were found in BRCA1 (9%) and two within the BRCA2 gene (6%). These are three frameshift mutations (c.798_799del, c.2125_2126insA, c.5116_5119delAATA), one missense (c.116G > A) and one nonsense mutation (c.289G > T). The mutation c.5116_5119delAATA has a founder effect in North Africa. Moreover, one variant of unknown significance was identified in BRCA2 (c.4090A > G). Most BRCA mutations carriers (80%) had no family history of breast cancer. Conclusion Our data do not support the hypothesis that BRCA mutations alone explain the higher frequency of breast cancer in Moroccan young women. The young age (≤40 years) for breast cancer diagnosis seems to be strongly predictive of BRCA mutation status in Moroccan patients. These results will help in decision making with regard to genetic counseling and testing in the national scale.

Incidence and mortality in epithelial ovarian cancer by family history of any cancer

Cancer ◽  
2011 ◽  
Vol 117 (17) ◽  
pp. 3972-3980 ◽  
Author(s):  
Kari Hemminki ◽  
Jan Sundquist ◽  
Andreas Brandt
Keyword(s):  
Ovarian Cancer ◽  
Family History ◽  
Epithelial Ovarian Cancer ◽  
Incidence And Mortality ◽  
History Of

scholarly journals Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer

Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1289
Author(s):  
Maisa Pinheiro ◽  
Fernanda Cristina Sulla Lupinacci ◽  
Karina Miranda Santiago ◽  
Sandra Aparecida Drigo ◽  
Fabio Albuquerque Marchi ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Family History ◽  
Protein Stability ◽  
Positive Family History ◽  
Low Frequency ◽  
Strand Break ◽  
Healthy Population ◽  
Cellular Models ◽  
Number Of Patients ◽  
History Of

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

scholarly journals Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. e22226-e22226
Author(s):  
A. Kwong ◽  
L. Wong ◽  
C. Wong ◽  
F. Law ◽  
E. Tang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
High Risk ◽  
Breast Cancers ◽  
Brca1 And Brca2 ◽  
Brca Mutations ◽  
Mutation Carriers ◽  
History Of ◽  
Brca2 Mutations ◽  
Brca1 And Brca2 Mutations

e22226 Background: Breast cancers due to underlying germline BRCA1 and BRCA2 mutations are associated with particular pathological features that may differ from sporadic breast cancers. We report clinical and pathologic characteristics of breast cancer in a clinical cohort of high risk Chinese women with BRCA mutations and those without mutations. Methods: 202 high risk women based on their age and family history were recruited from March 2007 to November 2008. Medical information was prospectively collected from the patients and medical records. BRCA1 and BRCA2 mutations were detected using full gene sequencing and multiplex ligation-dependent probe amplification (MLPA). Results: Of the 202 female probands tested, 25 (12.3 %) were BRCA mutation carriers of which 11 (44%) were BRCA1 and 14 (56%) were BRCA2 mutations. Breast cancer risk factors, other than family history, did not differ between carriers and non-carriers. Mutation carriers were more likely to have a familial history of breast cancer (p=0.07) and personal and family history of ovarian cancer (p=0.005; p=0.007). Other cancers found in carriers families included pancreatic, gastric, colon, lung, liver, and nasopharyngeal. 23% of women diagnosed with DCIS had BRCA mutations compared with 11.4% of those with invasive cancers. BRCA related tumors were more likely to be ER, PR and Her-2 negative (Triple negative, TN) (p= 0.006). Overall 9.6% of non-BRCA cancers were TN whereas 25.9% of BRCA cancers were TN. Prevalence of TN in BRCA1 carriers is 71% compared with 13.4% in BRCA2 carriers. BRCA1 mutation related cancers were significantly more likely to be ER negative than BRCA2 and this is only significant in those who are under 40 years of age (p=0.070). Conclusions: We have a high BRCA2 mutation rate in our cohort. BRCA related breast cancer is associated with families with increasing number of first degree relatives with breast and/or ovarian cancers and were higher for DCIS cancers. Prevalence of TN breast cancers was high compared to Caucasian cohorts. BRCA mutations were associated with pathologically, poor prognostic features (TN and high grade) especially in younger women. No significant financial relationships to disclose.

scholarly journals Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

2019 ◽  
Vol 56 (5) ◽  
pp. 301-307 ◽  
Author(s):  
Robert D Morgan ◽  
George J Burghel ◽  
Nicola Flaum ◽  
Michael Bulman ◽  
Andrew R Clamp ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Family History ◽  
Epithelial Ovarian Cancer ◽  
Medical History ◽  
Progression Free Survival ◽  
Cancer Syndrome ◽  
Platinum Sensitive ◽  
Endometrioid Ovarian Carcinoma ◽  
History Of

IntroductionPoly(ADP-ribose) polymerase inhibitors significantly improve progression-free survival in platinum-sensitive high-grade serous and endometrioid ovarian carcinoma, with greatest benefits observed in women with a pathogenic BRCA1/2 variant. Consequently, the demand for germline BRCA1/2 testing in ovarian cancer has increased substantially, leading to the screening of unselected populations of patients. We aimed to determine the prevalence of pathogenic germline BRCA1/2 variants in women diagnosed with epithelial ovarian cancer, categorised according to the established risk factors for hereditary breast and ovarian cancer syndrome and the Manchester BRCA Score, to inform risk stratification.MethodsA cohort of sequential epithelial ovarian cancer cases recruited between June 2013 and September 2018 underwent germline BRCA1/2 testing by next-generation sequencing and multiplex ligation-dependent probe amplification.ResultsFive hundred and fifty-seven patients were screened. Of these, 18% had inherited a pathogenic BRCA1/2 variant. The prevalence of pathogenic BRCA1/2 variants was >10% in women diagnosed with ovarian cancer earlier than 60 years of age (21%) and those diagnosed later than 60 years of age with a family history of breast and/or ovarian cancer (17%) or a medical history of breast cancer (34%). The prevalence of pathogenic BRCA1/2 variants was also >10% in women with a Manchester BRCA Score of ≥15 points (14%).DiscussionOur study suggests that age at diagnosis, family history of breast and/or ovarian cancer, medical history of breast cancer or a Manchester BRCA Score of ≥15 points are associated with a >10% prevalence of germline pathogenic BRCA1/2 variants in epithelial ovarian cancer.

Factors associated with referral and completion of genetic counseling in women with epithelial ovarian cancer

2020 ◽  
Vol 30 (9) ◽  
pp. 1397-1403
Author(s):  
Stephanie Alimena ◽  
Lauren Scarpetti ◽  
Erica L Blouch ◽  
Linda Rodgers ◽  
Kristen Shannon ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Family History ◽  
Epithelial Ovarian Cancer ◽  
Older Women ◽  
General Hospital ◽  
Massachusetts General Hospital ◽  
Insurance Status ◽  
Factors Associated ◽  
History Of

ObjectiveThe National Comprehensive Cancer Network recommends that all women diagnosed with epithelial ovarian cancer undergo genetic testing, as the diagnosis of pathogenic variants may inform cancer survival and impact treatment options. The objective of this study was to assess factors associated with referral to genetic counseling in women with epithelial ovarian cancer.MethodsA retrospective cohort study identified women with epithelial ovarian cancer from 2012 to 2017 at Massachusetts General Hospital and North Shore Medical Center, a community hospital affiliated with Massachusetts General Hospital. Multivariate logistic regression evaluated how race, age, stage, year of diagnosis, insurance status, family history of breast or ovarian cancer, and language relates to the receipt of genetic counseling.ResultsOf the total 276 women included, 73.9% were referred for genetic screening, of which 90.7% attended a genetic counseling visit. Older women were less likely to undergo genetic counseling (age ≥70 years: OR 0.26, 95% CI 0.07–0.94, p=0.04). Women who died within 365 days of initial oncology consult rarely reached a genetic counselor (OR 0.05, 95% CI 0.01–0.24, p<0.001). Women with a family history of breast or ovarian cancer were more likely to undergo counseling (OR 3.27, 95% CI 1.74–6.15, p<0.001). There was no difference in receipt of genetic counseling by race, stage, year of diagnosis, insurance status, or language.ConclusionOlder women with epithelial ovarian cancer and those who died within 1 year of initiation of care were less likely to undergo recommended genetic counseling. Race, insurance status, and language were not identified as predictive factors, although we were limited in this assessment by small sample size.

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