Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014

Daly, Mary B.; Pilarski, Robert; Axilbund, Jennifer E.; Buys, Saundra S.; Crawford, Beth; Friedman, Susan J.; Garber, Judy E.; Horton, Carolyn; Kaklamani, Virginia; Klein, Catherine; Kohlmann, Wendy; Kurian, Allison W.; Litton, Jennifer K.; Madlensky, Lisa; Marcom, P. Kelly; Merajver, Sofía D.; Offit, Kenneth; Pal, Tuya; Pasche, Boris; Reiser, Gwen; Shannon, Kristen M.; Swisher, Elizabeth M.; Voian, Nicoleta C.; Weitzel, Jeffrey N.; Whelan, Alison; Wiesner, Georgia L.; Dwyer, Mary A.; Kumar, Rashmi

doi:10.6004/jnccn.2014.0127

Cited by 156 publications

(186 citation statements)

References 12 publications

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“…Patients carrying these pathogenic variants are considered to be at a high-risk in developing tumor recurrence or secondary cancer according to the NCCN guidelines [9,34]. However, contralateral mastectomy or oophorectomy for these patients is currently not recommended in China, and asymptomatic women carrying pathogenic variants usually prefer not to undergo preventive surgery.…”

Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Jian

Shao

Qin

et al. 2017

Hered Cancer Clin Pract

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Background: Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population. Methods: We tested a panel of 27 genes implicated in breast cancer risk in 240 participants using Next-Generation Sequencing. The prevalence of genetic causative variants was determined and the association between causative variants and clinico-pathological characteristics was analyzed. Results: Causative variant rate was 19.2% in the breast cancer (case) group and 12.5% in the high-risk group. In the case group 2.5% of patients carried BRCA1 causative variant, 7.5% BRCA2 variants, 1.7% patients had MUTYH, CHEK or PALB2 variants, and 0.8% patients carried ATM, BARD1, NBN, RAD51C or TP53 variants. In the high-risk group 5. 8% women carried MUTYH causative variants, 2.5% had causative variants in ATM, 1.7% patients had variants in BRCA2 and 0.8% in BARD1, BRIP1 or CDH1. There was no significant difference in the presence of causative variants among clinical stages of breast cancer, tumor size and lymph nodes status. However, eight of the 12 BRCA1/2 causative variants were found in the TNBC group. Conclusions: We found increased genetic causative variants in the familial breast cancer group and in high-risk women with a family history of breast cancer. However, the variant MUTYH c.892-2A > G may not be directly associated with hereditary breast carcinoma.

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Section: Discussionmentioning

confidence: 99%

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Jian

Shao

Qin

et al. 2017

Hered Cancer Clin Pract

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“…We enrolled 80 of 108 consecutive patients diagnosed with breast cancer who were addressed for the oncological examination in Oncosurg Surgical Oncology Clinic, from Cluj-Napoca between January 2015 and December 2016 and met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing [11]. All the patients had a histopathological diagnosis carried out through a Tru-Cut Needle Biopsy in our clinic.…”

Section: Patientsmentioning

confidence: 99%

Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population

Goidescu

Eniu

Caracostea

et al. 2018

Revista Romana De Medicina De Laborator

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“…In one study, 21% (9/43) of palliative oncology patients were identified as having strong genetic risk according to published criteria [7,33,38] but none had undergone genetic counselling, genetic testing or DNA storage [36]. In a survey of 49 oncology and palliative physicians, none had arranged DNA storage for patients within the last year, and 20% (10/49) commented that they had never assessed a patient's familial risk [37].…”

Section: Practice Barriersmentioning

confidence: 99%

Genetics in palliative oncology: a missing agenda? A review of the literature and future directions

Morrow

Jacobs

Best

et al. 2017

Support Care Cancer

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Purpose In the palliative oncology setting, genetic assessment may not impact on the patient's management but can be of vital importance to their surviving relatives. Despite care of the family being central to the ethos of palliative care, little is known about how hereditary aspects of cancer are addressed in this setting. This review aims to examine current practices, identify practice barriers and determine the genetic information and support needs of patients, family members and health providers. Methods Key databases were systematically searched to identify both quantitative and qualitative studies that addressed these aims. Data was extracted and coded using thematic analysis. Results Eight studies were included for review. Suboptimal genetic practices were identified, with lack of knowledge and poor confidence amongst providers reported as barriers in both qualitative and quantitative studies. Providers expressed concern about the emotional impact of initiating these discussions late in the disease trajectory; however, qualitative interviews amongst palliative patients suggested there may be emotional benefits. Conclusions All lines of evidence suggest that genetics is currently missing from the palliative agenda, signifying lost opportunities for mutation detection, genetic counselling and appropriate risk management for surviving relatives. There is an urgent need for interventions to improve provider knowledge and awareness of genetic referral pathways and for research into the genetic information and support needs of palliative care patients.

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Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 1.2014

Cited by 156 publications

References 12 publications

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Clinical and genetic characterization of hereditary breast cancer in a Chinese population

Associations of pathogenic mutations responsible for breast cancer risk with histology and immunohistochemistry in Romanian population

Genetics in palliative oncology: a missing agenda? A review of the literature and future directions

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