Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

Desmond, Andrea; Kurian, Allison W.; Gabree, Michele; Mills, Meredith; Anderson, Michael J.; Kobayashi, Yuya; Horick, Nora; Yang, Shan; Shannon, Kristen M.; Tung, Nadine; Ford, James M.; Lincoln, Stephen E.; Ellisen, Leif W.

doi:10.1001/jamaoncol.2015.2690

Cited by 292 publications

(232 citation statements)

References 32 publications

Supporting

Mentioning

215

Contrasting

Unclassified

Order By: Relevance

“…In this series, our aim was to answer this question, since it represents a central challenge for the future deployment of genomic medicine [25,27,[35][36].…”

Section: Discussionmentioning

confidence: 99%

“…In the last 2 years, the literature assessing the contribution of multigene panel testing in cohorts of patients with HBOC has grown. The results have been consistent even though the inclusion criteria sometimes differ [17][18][19][20][21][22][23][24][25][26][27][28][29][30]. The next challenge is to determine the consequences of these results on clinical management [NCCN clinical practice Guidelines-see URL].…”

Section: Introductionmentioning

confidence: 89%

See 1 more Smart Citation

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Lizard¹,

Eliade²,

Skrzypski

et al. 2016

JCO

View full text Add to dashboard Cite

Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. Next generation sequencing and the recent discovery of new genes involved in HBOC now permit the transfer of genomic capture targeting multiple candidate genes from research to clinical use. However, the implications for the management of patients and their families have not been extensively studied, in particular since some of these genes are not well-established cancer predisposing genes. We studied 583 consecutive patients from Burgundy

show abstract

“…In this series, our aim was to answer this question, since it represents a central challenge for the future deployment of genomic medicine [25,27,[35][36].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 89%

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Lizard¹,

Eliade²,

Skrzypski

et al. 2016

JCO

View full text Add to dashboard Cite

show abstract

“…However, with the current popularization of gene panel assays, more data about the prevalence of those variants among women with a suspected hereditary predisposition for breast cancer have become available. In a recent prospective study of 1046 patients who were BRCA1-or BRCA2-negative and at high risk for hereditary breast or ovarian cancer, 3.8% (n = 40) were found to harbour an alternative pathogenic gene variant 24 . After CHEK2, ATM was the second most frequent variant identified, and it accounted for more than 25% (n = 11) of identifications 24 .…”

Section: Pathophysiology and Clinical Presentationmentioning

confidence: 99%

“…In a recent prospective study of 1046 patients who were BRCA1-or BRCA2-negative and at high risk for hereditary breast or ovarian cancer, 3.8% (n = 40) were found to harbour an alternative pathogenic gene variant 24 . After CHEK2, ATM was the second most frequent variant identified, and it accounted for more than 25% (n = 11) of identifications 24 . In the largest gene panel study to date, the prevalence of pathogenic ATM variants in 35,409 women with a first diagnosis of breast cancer was approximately 0.9% 25 .…”

Section: Pathophysiology and Clinical Presentationmentioning

confidence: 99%

Ataxia–Telangiectasia Gene (ATM) Mutation Heterozygosity in Breast Cancer: A Narrative Review

2018

View full text Add to dashboard Cite

show abstract

“…Therefore proper assessment of VUS has become a major issue in clinical genetic testing. Furthermore, previous studies have demonstrated that BRCA1/2 mutation-negative patients harbored deleterious mutations in moderate-risk cancer genes such as CHEK2, ATM, and PALB2 and MMR (19,20). Despite an increasing number of HBC testing facilities, there is little information available regarding attitudes towards precision medicine for HBC in Japan.…”

Section: Introductionmentioning

confidence: 99%

Current condition of genetic medicine for hereditary breast cancer

Terui-Kohbata

Yoshida

2017

Molecular and Clinical Oncology

View full text Add to dashboard Cite

Abstract. BRCA1 or BRCA2 (BRCA1/2) germline mutations, which cause hereditary breast and ovarian cancer syndrome, have been studied to develop targeted therapies for these associated cancer types. The BRCA1/2 test has been implemented in more than one hundred medical facilities in a clinical setting in Japan. The purpose of the current study is to document the prevalence and the awareness of genetic medicine for all hereditary breast cancer (HBC) including the BRCA1/2 test in Japan. The self-administered questionnaire was sent to 120 medical facilities where the BRCA1/2 test was provided, and 83 health care professionals participated (response rate, 69.2%). Of the all respondents, 33.7% (N=42) were clinical geneticists, 31.3% (N=26) other physicians, 15.7% (N=13) genetic counselors and 2.4% (N=2) nurses. In the most recent one-year period, in 83.1% of the 69 facilities the number of patients who underwent genetic testing for HBC was <10 and only 4 facilities provided multigene panel testing for HBC. In order to facilitate the access to genetic medicine, the majority of the genetic counselors (58.3%) recognized the need for education of healthcare professionals. Although the awareness of and interests in HBC have increased gradually, the equitable access to precision medicine is considered to be a challenging issue in Japan. IntroductionThe number of individuals affected with breast cancer has increased globally. In Japan, 89,400 females were newly diagnosed with breast cancer and there were 13,800 mortalities attributed to this disease in 2015 (1). Approximately 20% of breast cancer patients have a family history and 5-10% (2,3) are considered to be hereditary (hereditary breast cancer) HBC caused by a germline mutation such as BRCA1, BRCA2, TP53 or PTEN. Mutations in BRCA1/2 genes are associated with hereditary breast and ovarian cancer syndrome (HBOC), which is the most common form of HBC. It is also known that germline mutations of DNA mismatch repair (MMR) genes, such as MLH1, MSH2 and MSH6 are caused by Lynch syndrome, which is a hereditary colorectal cancer syndrome, and MLH1 particularly increases the risk of breast cancer (4).Women with HBOC have a 41-90% lifetime risk of developing breast cancer (5) and HBOC is characterized by the high risk of contralateral breast cancer (6). In addition, the cumulative risk for ovarian cancer is 8-59% and is higher in BRCA1 mutation carriers compared with BRCA2 mutation carriers (5-7). It was revealed that triple-negative breast cancer, which is estrogen receptor/progesterone receptor-negative and human epidermal growth factor receptor 2, negative was associated with HBOC and that 36% of women with early-onset triple-negative breast cancer (aged <40 years) had a BRCA1 mutation and 27% of women with triple-negative breast cancer diagnosed before the age of 50 years had a BRCA1 mutation (8). Male BRCA1/2 mutation carriers are also at increased risk of cancer. The cumulative risk of breast cancer is 1.2% in male BRCA1 mutation carriers and 6.8% in male BRCA2 mutation car...

show abstract

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

Cited by 292 publications

References 32 publications

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

Ataxia–Telangiectasia Gene (ATM) Mutation Heterozygosity in Breast Cancer: A Narrative Review

Current condition of genetic medicine for hereditary breast cancer

Contact Info

Product

Resources

About