1.BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.
Ananthapur VENKATESHWARI ; David Wayne CLARK ; Pratibha NALLARI ; Cingeetham VINOD ; Thangaraj KUMARASAMY ; Goverdhan REDDY ; Akka JYOTHY ; Malladi Vijay KUMAR ; Raghuraman RAMAIYER ; Komaraiah PALLE
Journal of Breast Cancer 2017;20(1):104-107
Male breast cancer (MBC) is a rare and poorly studied disease that is a growing global health problem. Interestingly, both the molecular basis of MBC and its histological profile are often quite distinct from the far more prevalent female breast cancer, emphasizing the need for increased focus on MBC. Here, we present a case report of an MBC patient from India with a strong familial history of breast cancer. This patient was normal for BRCA1/2 and many other common breast cancer-associated genes. However, upon further analysis, the individual was found to possess two mutations in the DNA helicase and tumor suppressor gene BRIP1, including a silent mutation at residue 879 as well as a P919S variant. Other family members were also screened for these mutations. To the best of our knowledge, this is the first report of BRIP1 mutation in MBC in the Indian population.
Breast Neoplasms*
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Breast Neoplasms, Male
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Breast*
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DNA
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Female*
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Genes, Tumor Suppressor
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Global Health
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Humans
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India*
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Male*
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Silent Mutation
2.Financial toxicity in patients with gynecologic malignancies: a cross sectional study
Burak ZEYBEK ; Emily WEBSTER ; Natalia POGOSIAN ; Joan TYMON-ROSARIO ; Alan BALCH ; Gary ALTWERGER ; Mitchell CLARK ; Gulden MENDERES ; Gloria HUANG ; Masoud AZODI ; Elena S. RATNER ; Peter E. SCHWARTZ ; Alessandro D. SANTIN ; Vaagn ANDIKYAN
Journal of Gynecologic Oncology 2021;32(6):e87-
Objective:
To evaluate financial toxicity and assess its risk factors among patients with gynecologic cancers.
Methods:
This is a cross sectional study that included 2 survey tools, as well as patient demographics, disease characteristics, and treatment regimen. Financial toxicity is measured by validated Comprehensive Score for Financial Toxicity (COST) tool. Participants were also asked to complete a 55-question-survey on attitudes and perspectives surrounding cost of care. Descriptive statistics was used to report patient demographics. Spearman's rank correlation was calculated to assess the relation between financial toxicity and patient/disease related variables. Graphpad Prism Software Version 8.0 was used for analyses.
Results:
A total of 50 patients with various gynecologic malignancies were enrolled. Median COST score was 20.5 (range, 1–33). Sixty-five percent of the patients reported being in debt due to their cancer care and 4% filed bankruptcy. Correlation analysis showed that COST score was correlated with age (r=−0.3, p=0.028), malignancy type (r=0.3, p=0.039) and income (r=0.3, p=0.047). Ovarian cancer patients had significantly less financial toxicity (median COST score=23) when compared to patients with other gynecologic malignancies (median COST score=17, p=0.043). When scores were dichotomized into low (score ≥22) and high toxicity (score <22), 58% (29/50) of the patients were noted to have high financial toxicity. Enrollment to a clinical trial did not significantly alleviate financial burden.
Conclusion
Financial toxicity is a significant burden even among highly insured gynecologic oncology patients. Age, malignancy type and income were correlated with high financial burden.