Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer

Chávarri‐Guerra, Yanin; Marcum, Catherine A.; Hendricks, Carolyn B.; Deborah, Wilbur; Hake, Christopher R.; Abugattas, Julio; Rodriguez, Yenni; Villarreal‐Garza, Cynthia; Yang, Kai; Cervantes, Aleck; Sand, Sharon; Castillo, Danielle; Herzog, Joseph; Mokhnatkin, Janet V.; Sedrak, Mina S.; Soto‐Pérez‐de‐Celis, Enrique; Weitzel, Jeffrey N.

doi:10.1016/j.jgo.2020.11.008

Cited by 10 publications

(8 citation statements)

References 7 publications

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“…Pathogenic variants in high‐risk breast cancer predisposition genes ( BRCA1 , BRCA2 , and PALB2 ) were found in 4.5% of older women with triple‐negative breast cancer. In a smaller study that included 130 women with triple‐negative breast cancer over the age of 60 years, 12.3% of the women were found to have a pathogenic variant in a breast cancer predisposition gene ( BRCA1 , BRCA2 , PALB2 , ATM , and RAD51C ) 13 . Our findings add to the growing body of evidence that all women with triple‐negative breast cancer should be eligible for genetic testing, regardless of age at diagnosis.…”

Section: Discussionmentioning

confidence: 60%

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Metcalfe

Narod²,

Eisen

et al. 2022

Cancer Medicine

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Background Knowledge of pathogenic variants in cancer‐predisposing genes is important when making breast cancer treatment decisions, but genetic testing is not universal and criteria must be met to qualify for genetic testing. The objective of this study was to evaluate the pathogenic variant yield for nine cancer predisposition genes by testing criteria, singly and in combination. Methods Women diagnosed with breast cancer between June 2013 and May 2018 were recruited from four centers in Toronto, Canada. Participants completed a demographics and family history questionnaire and clinical characteristics were collected from medical charts. Genetic testing was done for BRCA1 , BRCA2 , PALB2 , ATM , CHEK2 , BRIP1 , RAD51D , RECQL , and TP53 . Pathogenic variant frequencies were calculated according to five criteria (age ≤ 50, triple‐negative breast cancer, family history, bilateral breast cancer, or Jewish ethnicity). Results Of the 1006 women studied, 100 women (9.9%) were found to have a pathogenic variant in one of the nine genes tested. The highest prevalence of pathogenic variants was found in women with triple‐negative breast cancer (23%). Of the 100 pathogenic variants detected, 78 were detected in women diagnosed at age 50 or less. A total of 96% of the mutations were identified with three criteria (age of diagnosis, family history, and triple‐negative status). Conclusions Genetic testing criteria for women with breast cancer should include women with triple‐negative breast cancer, regardless of age. All women aged 50 years or below at time of breast cancer diagnosis should be offered genetic testing.

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Section: Discussionmentioning

confidence: 60%

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Metcalfe

Narod²,

Eisen

et al. 2022

Cancer Medicine

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“…Stjepanovic and coworkers [ 11 ] report that the cumulative BC rate and annual incidence rate in BRCA1 PSV carriers ( n = 463) age 60–80 years followed up for an average of 7/9 years were 20.1% and 1.8% and for BRCA2 PSV carriers ( n = 236) these rates were 17.3% and 1.7%, respectively. Another study [ 12 ] analyzing women diagnosed with triple-negative BC above age 61 years ( n = 130), reported that of six BRCA1 and five BRCA2 PSV carriers, three were diagnosed above age 70. Interestingly one of those did carry the predominant Jewish mutation in BRCA1 c.68_69del (AKA 185delAG).…”

Section: Discussionmentioning

confidence: 99%

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience

Bufman,

Faermann,

Halshtok-Neiman

et al. 2024

Breast Cancer Res Treat

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Purpose A semi-annual surveillance scheme from age 25 to 30 years is offered to BRCA1/BRCA2 pathogenic sequence variants (PSVs) carriers for early detection of breast cancer (BC). There is a paucity of data on the yield of adhering to this scheme beyond 70 years of age. Methods Female BRCA1/BRCA2 PSV carriers followed at the Meirav high-risk clinic, Sheba Medical center, Israel were eligible. Type and frequencies if use of Imaging modalities, breast biopsies and histological outcomes for participants after age 70 years were retrieved and analyzed. Results Overall, the study encompassed 88 consenting participants (46 BRCA1 carriers) mean age ± SD 73.7 ± 3.3 years (range 70–90 years), followed for an average of 3.8 years (range 1–11 years). Ten carriers (11.3%) were diagnosed with BC after age 70 years (mean age at diagnosis 72 ± 2 years) and an additional case was diagnosed with breast lymphoma. The imaging modality that has led to most diagnoses was MRI (8/11 cases). Eight of these ten cases were previously diagnosed with BC prior to age 70 and in six, BC past 70 years was in the contralateral breast. The lesions size averaged 1.29 ± 0.75 cm, with IDC and DCIS diagnosed in five cases each, and none had lymph node involvement. Conclusion In ~10% of BRCA1/BRCA2 PSV carriers BC is diagnosed by breast imaging after age 70 years. If these results are validated in a larger study, the guidelines for the maximum age for BC surveillance in high risk women should be revisited and set at 75 years.

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“…The yield of BRCA PVs across all four sites was comparable with the yield in high-risk clinics in the United States that follow NCCN guidelines, with the greatest yield at sites with younger age at diagnosis and more patients affected with cancer. 7 , 28 , 40 …”

Section: Discussionmentioning

confidence: 99%

Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico

Blazer

Chávarri‐Guerra

Villarreal‐Garza

et al. 2021

JCO Global Oncology

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PURPOSE Genomic cancer risk assessment (GCRA) is standard-of-care practice that uses genomic tools to identify individuals with increased cancer risk, enabling screening for early detection and cancer prevention interventions. GCRA is not available in most of Mexico, where breast cancer (BC) is the leading cause of cancer death and ovarian cancer has a high mortality rate. METHODS Guided by an implementation science framework, we piloted the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) intervention, combining GCRA training, practice support, and low-cost BRCA1/ 2 ( BRCA) gene testing at four centers in Mexico. The RE-AIM model was adapted to evaluate GRACIAS intervention outcomes, including reach, the proportion of new patients meeting adapted National Comprehensive Cancer Network criteria who participated in GCRA. Barriers to GCRA were identified through roundtable sessions and semistructured interviews. RESULTS Eleven clinicians were trained across four sites. Mean pre-post knowledge score increased from 60% to 67.2% (range 53%-86%). GCRA self-efficacy scores increased by 31% (95% CI, 6.47 to 55.54; P = .02). Participant feedback recommended Spanish content to improve learning. GRACIAS promoted reach at all sites: 77% in Universidad de Guadalajara, 86% in Instituto Nacional de Cancerología, 90% in Tecnológico de Monterrey, and 77% in Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Overall, a pathogenic BRCA variant was identified in 15.6% (195 of 1,253) of patients. All trainees continue to provide GCRA and address barriers to care. CONCLUSION We describe the first project to use implementation science methods to develop and deliver an innovative multicomponent implementation intervention, combining low-cost BRCA testing, comprehensive GCRA training, and practice support in Mexico. Scale-up of the GRACIAS intervention will promote risk-appropriate care, cancer prevention, and reduction in related mortality.

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Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer

Cited by 10 publications

References 7 publications

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience

Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico

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Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer

Cited by 10 publications

References 7 publications

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Genetic testing women with newly diagnosed breast cancer: What criteria are the most predictive of a positive test?

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience

Development and Pilot Implementation of the Genomic Risk Assessment for Cancer Implementation and Sustainment (GRACIAS) Intervention in Mexico

Contact Info

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Resources

About

Breast cancer associated pathogenic variants among women 61 years and older with triple negative breast cancer