Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

Yablonski-Peretz, Tamar; Paluch‐Shimon, Shani; Gutman, Lior Soussan; Kaplan, Y.; Dvir, Addie; Barnes-Kedar, Inbal; Kadouri, Luna; Semenisty, Valerya; Efrat, Noa; Neiman, Victoria; Glasser, Yafit; Michaelson‐Cohen, Rachel; Katz, Lior H.; Kaufman, Bella; Golan, Talia; Reish, Orit; Hubert, Ayala; Safra, Tamar; Yaron, Yuval; Friedman, Eitan

doi:10.1007/s10549-015-3662-2

Cited by 18 publications

(9 citation statements)

References 28 publications

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“…The burden estimates are also made at the population level and, thus, do not necessarily reflect the cancer burden among subpopulations, such as people with lower socioeconomic statuses who are at a much higher risk of breast cancer mortality (Feinglass et al, 2015), or among various ethnic groups where genetic susceptibilities to breast cancer are more prevalent (Torres-Mej ıa et al, 2015;Yablonski-Peretz et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

Alcohol Use and Breast Cancer: A Critical Review

Shield

Soerjomataram

Rehm

2016

Alcoholism Clin & Exp Res

147

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The objective of this study was to outline the biological pathways of alcohol-attributable breast cancer, the epidemiological risk relationship between alcohol consumption and breast cancer, and the global burden of breast cancer incidence and mortality attributable to alcohol consumption, with a focus on light drinking. First, the literature regarding the biological mechanisms of how alcohol affects the risk of breast cancer was reviewed and summarized. Second, a search of meta-analyses that evaluated the risk relationship between alcohol consumption and breast cancer was conducted. Last, the burden of alcohol-attributable breast cancer incidence and mortality was estimated by means of a Population-Attributable Fraction methodology. Data on alcohol consumption were obtained from the Global Information System on Alcohol and Health, and data on cancer incidence and mortality were obtained from the GLOBOCAN database. Alcohol consumption affects breast cancer risk through the alteration in hormone levels and the associated biological pathways, the metabolism of ethanol resulting in carcinogens, and the inhibition of the one carbon metabolism pathway. The systematic review found 15 meta-analyses on the risk relationship between alcohol consumption (also light consumption) and the risk of breast cancer. All but 2 of these analyses showed a dose-response relationship between alcohol consumption and the risk of breast cancer. An estimated 144,000 (95% confidence interval [CI]: 88,000 to 200,000) breast cancer cases and 38,000 (95% CI: 2,400 to 53,000) breast cancer deaths globally in 2012 were attributable to alcohol, with 18.8% of these cases and 17.5% of these deaths affecting women who were light alcohol consumers. All levels of evidence showed a risk relationship between alcohol consumption and the risk of breast cancer, even at low levels of consumption. Due to this strong relationship, and to the amount of alcohol consumed globally, the incidence of and mortality from alcohol-attributable breast cancer is large.

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Section: Discussionmentioning

confidence: 99%

Alcohol Use and Breast Cancer: A Critical Review

Shield

Soerjomataram

Rehm

2016

Alcoholism Clin & Exp Res

147

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“…1 In contrast, such testing is not sufficient if there is a significant personal or family history of cancer because other nonfounder BRCA mutations, and mutations in other cancer risk-predisposition genes have been reported in the AJ population. 34,35 Stratification aligns well with best clinical practice because each participant, based on his or her initial risk level, can be offered the most appropriate genetic counseling and testing. For those with significant cancer histories, that testing often can include panels of cancer-susceptibility genes that are cost-effective and time-efficient.…”

Section: Stratification and Resulting Routine Clinical Care For Those...mentioning

confidence: 90%

Experiences from a pilot program bringing BRCA1/2 genetic screening to the

Wiesman

Rose

Grant

et al. 2017

Genetics in Medicine

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“…These prevalence findings are similar to the published literature addressing this question in AJ patients (Table 4). 9,[15][16][17][18][19][20]27 Most recently, Walsh et al 20 assessed genetic testing results from 1007 women from 12 major cancer centers who were diagnosed with invasive breast cancer. This group found that 7 of the patients (0.7%) had nonfounder BRCA1/2 mutations and identified 31 patients (3%) with mutations in non-BRCA1/2 genes, the same rate identified in the current study cohort.…”

Section: Discussionmentioning

confidence: 99%

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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Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel

Cited by 18 publications

References 28 publications

Alcohol Use and Breast Cancer: A Critical Review

Alcohol Use and Breast Cancer: A Critical Review

Experiences from a pilot program bringing BRCA1/2 genetic screening to the

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

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