Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry

Rosenthal, Eric T.; Moyes, Kelsey; Arnell, Christopher; Evans, Brent; Wenstrup, Richard J.

doi:10.1007/s10549-014-3218-x

Cited by 47 publications

(37 citation statements)

References 12 publications

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“…Accordingly, when we compared AJ and non-AJ primary melanoma patients, there was no significant difference in personal or family history of known BRCA -associated cancers. An estimated 2.5% of AJ individuals carry founder mutations in BRCA1 and BRCA2 tumor suppressor genes, which is about ten times higher than in the general population [14,28]. Founder mutations in the BRCA1/2 genes account for the majority of the inherited breast and ovarian cancer among Ashkenazi Jews, and have also been linked to several other cancers, including pancreatic and prostate cancer [15,16].…”

Section: Discussionmentioning

confidence: 99%

Impact of Socioeconomic Status and Ethnicity on Melanoma Presentation and Recurrence in Caucasian Patients

et al. 2016

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Objectives: The impact of ethnicity and the socioeconomic status (SES) among Caucasians is not well studied. Here, we examine the impact of income on melanoma presentation and prognosis within a Caucasian cohort, accounting for ethnicity, as some reports suggest increased melanoma incidence in Ashkenazi Jewish (AJ) BRCA mutation carriers. Methods: We studied prospectively enrolled primary melanoma patients at New York University. SES data were estimated using United States' Census Bureau data and patient zip codes. We evaluated associations between ethnicity, SES, and baseline characteristics using the χ² test and multivariate logistic regression. We compared survival distributions using Kaplan-Meier curves, log-rank tests, and Cox proportional hazard ratios. Results: Of the 1,339 enrolled patients, AJ represented 32% (n = 423). Apart from AJ being older at presentation (p < 0.001), no significant differences were observed in baseline characteristics between ethnic groups. Patients with a median household income (MHI) lower than the median of the cohort were significantly more likely to present with advanced stages (p < 0.001) compared to patients with a higher MHI. Shorter overall (p = 0.016) and post-recurrence survival (p = 0.042) was also observed in patients from lower-income households. Conclusion: Data suggest that disparities in melanoma presentation in Caucasians stratify according to income independent of ethnic background.

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Section: Discussionmentioning

confidence: 99%

Impact of Socioeconomic Status and Ethnicity on Melanoma Presentation and Recurrence in Caucasian Patients

et al. 2016

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“…The median age of the patients at the time of testing was 56 years (range, 18 positive for BRCA1 185delAG and BRCA2 6174delT). The median age of the patients at the time of testing was 56 years (range, 18 positive for BRCA1 185delAG and BRCA2 6174delT).…”

Section: Resultsmentioning

confidence: 99%

“…9,[15][16][17] Rosenthal et al reviewed what to our knowledge is the largest cohort to date of nearly 40,000 AJ patients, and identified nonfounder BRCA1/2 mutations in approximately 0.8% of the population. 18 Nonfounder BRCA1/2 mutations comprised 8.5% of all BRCA1/2 mutations in this group. To the best of our knowledge, few groups to date have evaluated the contribution of mutations in non-BRCA1/2 hereditary cancer genes.…”

Section: Introductionmentioning

confidence: 91%

Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center

Frey

Kopparam

Zhou

et al. 2018

Cancer

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BACKGROUND: Genetic assessment in Ashkenazi Jewish (AJ) patients often is limited to BRCA1/2 founder mutation testing. With access to time-efficient and cost-efficient multigene panel testing, some advocate expanding genetic testing in this population. However, to the best of the authors' knowledge, rates of nonfounder BRCA1/2 mutations and mutations in cancer-associated genes other than BRCA1/2 among AJ are not known. In the current study, the authors sought to assess the prevalence of mutations other than BRCA1/2 founder mutations among AJ patients undergoing genetic assessment. METHODS: The authors reviewed the medical records for all AJ patients who underwent genetic assessment at a single institution between June 2013 and December 2016. Mutations were categorized as 1) BRCA1/2 AJ founder mutations (BRCA1 185delAG, BRCA1 5382insC, or BRCA2 6174delT); 2) nonfounder BRCA1/2 mutations; or 3) mutations in non-BRCA1/2 cancer-associated genes. RESULTS: A total of 732 AJ patients underwent genetic assessment. Of these, 371 patients (51%) had a personal history of breast or ovarian cancer, 540 patients (73.8%) had a family history of breast cancer, and 132 patients (18%) had a family history of ovarian cancer. In the study population, 101 patients (13.8%) were found to have a pathogenic mutation, 78 patients (10.7%) had a BRCA1/2 founder mutation, 3 patients (0.4%) had a nonfounder BRCA1/2 mutation, and 20 patients (2.7%) had a mutation in a non-BRCA1/2 cancer-associated gene. Non-BRCA1/2 cancer-associated genes harboring mutations included RAD51D, TP53, mutS homolog 6 (MSH6), checkpoint kinase 2 (CHEK2), adenomatous polyposis coli (APC), and Fanconi anemia group C protein (FANCC). CONCLUSIONS: Among AJ patients found to have a pathogenic mutation on genetic assessment, approximately 22.8% had a mutation that would be missed with BRCA1/2 AJ founder mutation testing. Comprehensive multigene panel sequencing can provide clinically relevant genetic information for AJ patients and should be considered for genetic assessment in this population. Cancer 2019;125:690-697.

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“…Full sequencing and comprehensive rearrangement analysis of the BRCA1 (chromosome 17q21.31) and BRCA2 (chromosome 13q13.1) genes was performed. This test revealed a deleterious BRCA1 gene mutation: the 5385insC mutation which is one of three founder mutations commonly observed in the Ashkenazi Jewish population . As a component of guideline‐concordant genetic counseling, various options were offered to the patient for management of her elevated breast cancer risk, including intensive surveillance with annual mammogram and annual breast MRI or prophylactic mastectomies .…”

Section: Case Presentationmentioning

confidence: 99%

Addressing inherited predisposition for breast cancer in transplant recipients

Yang

Kurian

Winton

et al. 2016

Journal of Surgical Oncology

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Consideration of prophylactic mastectomy surgery following transplantation requires complex medical decision-making, and bias against elective surgery exists because of concern for post-operative complications. Prevention of cancer in transplant recipients is of utmost importance, given the risks of treating malignancy in an immunosuppressed patient. We present a patient case and review of the literature to support a thorough pre-transplantation evaluation of family history and consideration of prophylactic interventions to safeguard the quality of life of transplant recipients. J. Surg. Oncol. 2016;113:605-608. © 2016 Wiley Periodicals, Inc.

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Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry

Cited by 47 publications

References 12 publications

Impact of Socioeconomic Status and Ethnicity on Melanoma Presentation and Recurrence in Caucasian Patients

Impact of Socioeconomic Status and Ethnicity on Melanoma Presentation and Recurrence in Caucasian Patients

Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center

Addressing inherited predisposition for breast cancer in transplant recipients

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