Special Issue "BRCA Mutations and Cancer"

A special issue of Cancers (ISSN 2072-6694).

Deadline for manuscript submissions: closed (30 September 2018)

Special Issue Editor

Guest Editor
Dr. Steven Narod

Women’s College Research Institute, Toronto, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, Canada
Website | E-Mail
Interests: BRCA1 and BRCA2 genes; breast cancer; ovarian cancer

Special Issue Information

Dear Colleagues,

Genetic testing for susceptibility for breast cancer has come a long way since 1995. In this Special Issue of Cancers, we explore several topics related to the contemporary management of women with a mutation in a cancer susceptibility gene. We started out with two genes (BRCA1 and BRCA2) and have now arrived at panels of twenty or more genes in the test set. It is important that we keep generating information and knowledge of how to best use the results of the panoply of genes in the patients’ interest. This involves differentiating between benign variants and cancer-causing mutations and understanding the range of cancers and the inherent risks associated with each of these genes. Depending on the expected likelihood of developing a cancer, a woman may choose between intensified screening or preventive surgery. We would like to increase the options to include chemoprevention as well, as long as the drug is safe and tolerable and the evidence is solid.

It is also important that our recommendations reflect the state of a woman’s life. Some women may get a positive result with no history of cancer. Others will have a recent or past history of cancer. In the era of personalized medicine, it is thought that we can best manage new cancer with individualized care, which may mean a change in drug therapy and more expensive surgery. It is not clear how we apply these principles to women who have been treated for cancer in the past—say for ten-year survivors. We are also expanding the range of women tested. With next generation sequencing, the costs are no long prohibitive and we wonder if it is time to offer genetic testing to all women who wish to have it. This calls for new models of counselling and care. In addition, for women with a positive mutations, but no family history, does this change the management plans? Some have suggested that we can use data about other genes in the form of single nucleotide polymorphisms to help us refine risk and guide management decisions. In this issue of Cancers we have a panels of experts weigh in on these important issues in this evolving field.

Dr. Steven Narod
Guest Editor

Manuscript Submission Information

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Published Papers (3 papers)

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Research

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Open AccessArticle A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico
Cancers 2018, 10(11), 419; https://doi.org/10.3390/cancers10110419
Received: 14 August 2018 / Revised: 22 October 2018 / Accepted: 26 October 2018 / Published: 2 November 2018
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Abstract
Breast cancer is the most common cause of cancer diagnosis in women and is responsible for considerable mortality among the women of Puerto Rico. However, there are few studies in Puerto Rico on the genetic factors influencing risk. To determine the contribution of
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Breast cancer is the most common cause of cancer diagnosis in women and is responsible for considerable mortality among the women of Puerto Rico. However, there are few studies in Puerto Rico on the genetic factors influencing risk. To determine the contribution of pathogenic mutations in BRCA1 and BRCA2, we sequenced these genes in 302 cases from two separate medical centers, who were not selected for age of onset or family history. We identified nine cases that are carriers of pathogenic germline mutation. This represents 2.9% of unselected cases and 5.6% of women meeting National Comprehensive Cancer Network (NCCN) criteria for BRCA testing. All of the identified pathogenic mutations were in the BRCA2 gene and the most common mutation is the p.Glu1308Ter (E1308X) mutation in BRCA2 found in eight out of nine cases, representing 89% of the pathogenic carriers. The E1308X mutation has been identified in breast and ovarian cancer families in Spain, and analysis of flanking DNA polymorphisms shows that all E1308X carriers occur on the same haplotype. This is consistent with BRCA2 E1308X being a founder mutation for the Puerto Rican population. These results will contribute to better inform genetic screening and counseling of breast and ovarian cancer cases in Puerto Rico and Puerto Rican populations in mainland United States. Full article
(This article belongs to the Special Issue BRCA Mutations and Cancer)
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Review

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Open AccessReview Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer
Cancers 2018, 10(11), 435; https://doi.org/10.3390/cancers10110435
Received: 12 October 2018 / Revised: 6 November 2018 / Accepted: 9 November 2018 / Published: 13 November 2018
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Abstract
The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an
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The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment. The purpose of this scoping review is to provide an overview of the patient outcomes that are associated with alternative models of genetic testing and genetic counseling for hereditary cancer, including germline-only and tumor testing models. Seven databases were searched, selecting studies that were: (1) full-text articles published ≥2007 or conference abstracts published ≥2015, and (2) assessing patient outcomes of an alternative model of genetic counseling or testing. A total of 79 publications were included for review and synthesis. Data-charting was completed using a data-charting form that was developed by the study team for this review. Seven alternative models were identified, including four models that involved a genetic counselor: telephone, telegenic, group, and embedded genetic counseling models; and three models that did not: mainstreaming, direct, and tumor-first genetic testing models. Overall, these models may be an acceptable alternative to traditional models on knowledge, patient satisfaction, psychosocial measures, and the uptake of genetic testing; however, particular populations may be better served by traditional in-person genetic counseling. As precision medicine initiatives continue to advance, institutions should consider the implementation of new models of genetic service delivery, utilizing a model that will best serve the needs of their unique patient populations. Full article
(This article belongs to the Special Issue BRCA Mutations and Cancer)
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Open AccessReview Population Based Testing for Primary Prevention: A Systematic Review
Cancers 2018, 10(11), 424; https://doi.org/10.3390/cancers10110424
Received: 29 September 2018 / Revised: 24 October 2018 / Accepted: 31 October 2018 / Published: 5 November 2018
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Abstract
The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50%
[...] Read more.
The current clinical model for genetic testing is based on clinical-criteria/family-history (FH) and a pre-defined mutation probability threshold. It requires people to develop cancer before identifying unaffected individuals in the family to target prevention. This process is inefficient, resource intensive and misses >50% of individuals or mutation carriers at risk. Population genetic-testing can overcome these limitations. It is technically feasible to test populations on a large scale; genetic-testing costs are falling and acceptability and awareness are rising. MEDLINE, EMBASE, Pubmed, CINAHL and PsychINFO databases were searched using free-text and MeSH terms; retrieved reference lists of publications were screened; additionally, web-based platforms, Google, and clinical-trial registries were searched. Quality of studies was evaluated using appropriate check-lists. A number of studies have evaluated population-based BRCA-testing in the Jewish population. This has been found to be acceptable, feasible, clinically-effective, safe, associated with high satisfaction rates and extremely cost-effective. Data support change in guidelines for population-based BRCA-testing in the Jewish population. Population panel testing for BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 gene mutations is the most cost-effective genetic-testing strategy in general-population women and can prevent thousands more breast and ovarian cancers than current clinical-criteria based approaches. A few ongoing studies are evaluating population-based genetic-testing for multiple cancer susceptibility genes in the general population but more implementation studies are needed. A future population-testing programme could also target other chronic diseases. Full article
(This article belongs to the Special Issue BRCA Mutations and Cancer)
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