Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

Abbas, Saba; Siddique, Ayesha; Shahid, Naeem; Khan, Rashid; Fatima, Warda

doi:10.1007/s12282-018-0932-y

Cited by 7 publications

(8 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Risk-of-Bias summary Table 1 provides details of the risk of bias assessment for all studies. Four studies received an overall quality score of strong [11][12][13][14], 16 received moderate [15][16][17][18][19][20][21][22][23][24][25][26][27][28][29], and one received weak [30]. Table 2 provides study characteristics and results of the studies reviewed for both ovarian and breast cancer.…”

Section: Resultsmentioning

confidence: 99%

“…Among case-control studies, Abbas and colleagues [26] observed a significant association with adulthood overweight/obesity status and increased likelihood of breast cancer (overweight: OR 3.06, 95%CI 1.36,6.87; obesity: OR 4.09, 95%CI 1.91,8.75) among 200 women with BRCA1/2 pathogenic germline gene variants. In contrast, Qian and colleagues [29] observed a reduction in breast cancer risk with each 5 kg/m 2 increase in BMI at adulthood, young-adulthood, and BMI-GS analyses among women with BRCA1/2 pathogenic germline gene variants (adulthood: HR 0.94, 95%CI 0.90,0.98; n = 6964; 3331 events; young-adulthood: HR 0.82, 95%CI 0.75, 0.90; n = 5210; 2436 events; BMI-GS: HR 0.87, 95%CI 0.76,0.98; n = 22,588; 11,451 events) [29].…”

Section: Weight Status/changementioning

confidence: 99%

“…Evidence is also mixed for adulthood weight gain [18,20] and adulthood weight status [20,26,29,31]. Among the general population, evidence is probable that overweight/obesity in young adulthood decreases pre-and postmenopausal breast cancer risk, and overweight/ obesity in adulthood increases postmenopausal breast cancer risk [34].…”

Section: Dietary Habitsmentioning

confidence: 99%

See 2 more Smart Citations

Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review

Coletta

Peterson

Gatus

et al. 2020

Hered Cancer Clin Pract

View full text Add to dashboard Cite

Introduction: Women with pathogenic germline gene variants in BRCA1 and/or BRCA2 are at increased risk of developing ovarian and breast cancer. While surgical and pharmacological approaches are effective for riskreduction, it is unknown whether lifestyle approaches such as healthful dietary habits, weight management, and physical activity may also contribute to risk-reduction. We conducted a systematic review of evidence related to dietary habits, weight status/change, and physical activity on ovarian and breast cancer risk among women with BRCA1/2 pathogenic variants. Methods: We searched Medline, EMBASE, CENTRAL, PubMed, and clinicaltrials.gov up to October 3, 2019. We identified 2775 records and included 21. Results: There is limited evidence related to these factors and ovarian cancer risk. For breast cancer risk, evidence suggests higher diet quality, adulthood weight-loss of ≥10 pounds, and activity during adolescence and youngadulthood may be linked with decreased risk. Higher meat intake and higher daily energy intake may be linked with increased risk. Conclusions: There is not enough evidence to suggest tailored recommendations for dietary habits or weight management among women with BRCA1/2 pathogenic variants compared to the general population for ovarian and breast cancer risk-reduction, and physical activity recommendations should remain the same.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Weight Status/changementioning

confidence: 99%

See 1 more Smart Citation

Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review

Coletta

Peterson

Gatus

et al. 2020

Hered Cancer Clin Pract

View full text Add to dashboard Cite

show abstract

“…Kang et al suggested that the BRCA1 p.Q1458* mutation changes the glutamine residue in reference to the sequence to stopgained codon protein truncation (32). Abbas et al suggested that the Q1458* mutation changes of BRCA1 are highly pathogenic in breast cancer patients (33). Genetic testing for BRCA1 p.Q1458* could be helpful in the diagnosis and treatment of cancer.…”

Section: Discussionmentioning

confidence: 99%

Severe hypoglycemia and finger clubbing in a patient with a BRCA1 mutation in a solitary fibrous tumor: a case report

Guo

Lei

et al. 2021

Ann Transl Med

View full text Add to dashboard Cite

Solitary fibrous tumors (SFTs) are rare tumors that stem from mesenchymal cells of submesothelial tissues belonging to the pleura. They can occur in many places such as the spinal canal, intracranial, neck, kidney, liver, pelvis, limbs and other places, most commonly in the chest and abdomen.Pleural SFTs are one of the most common types, and are common in middle-aged people. Pleural SFTs can have an insidious expression, such that the illness can progress for years before diagnosis. SFTs can induce paraneoplastic syndromes, such as reactive hypoglycemia [Doege-Potter syndrome (DPS)] or hypertrophic osteoarthropathy [Pierre-Marie-Bamberger syndrome (PMBS)]. In this article, we report a case study of a 51-year-old man with pleural SFTs. Preoperative imaging examinations, including chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI), showed a huge mass in the right thoracic cavity, compressing surrounding tissues and organs and may invade other tissues. In addition, he suffers from severe hypoglycemia and finger clubbing, and has successfully undergone a complete resection, and now attends regular follow-up appointments. The paraneoplastic syndromes have resolved, and no recurrence has been found. Importantly, we used next-generation sequencing (NGS) to explore the molecular characteristics of the patient's pathological tissue at the DNA level and mRNA level, and found that breast cancer gene 1 (BRAC1) mutations may be an important pathogenic factor.

show abstract

“…Some studies have found that maintaining a healthy bodyweight or weight loss in young adulthood is associated with delayed onset of breast cancer (4,5). Other studies have reported that adiposity or elevated bodyweight in adulthood is associated with increased cancer risk (5)(6)(7)(8)(9).…”

Section: Introductionmentioning

confidence: 99%

Obesity promotes breast epithelium DNA damage in BRCA mutation carriers

Bhardwaj

Iyengar

Zahid

et al. 2022

Preprint

View full text Add to dashboard Cite

Obesity is an established risk factor for breast cancer among women in the general population after menopause. Whether elevated bodyweight is a risk factor for women with a germline mutation in BRCA1 or BRCA2 is less clear due to inconsistent findings from epidemiological studies and lack of mechanistic studies in this population. Here, we show that DNA damage in normal breast epithelium of BRCA mutation carriers is positively correlated with body mass index and with biomarkers of metabolic dysfunction. Additionally, RNA-sequencing reveals significant obesity-associated alterations to the breast adipose microenvironment of BRCA mutation carriers, including activation of estrogen biosynthesis, which impacts neighboring breast epithelial cells. We found that blockade of estrogen biosynthesis or estrogen receptor activity decreases DNA damage, whereas treatment with leptin or insulin increases DNA damage in BRCA heterozygous epithelial cells. Furthermore, we show that increased adiposity is associated with mammary gland DNA damage and increased penetrance of mammary tumors in Brca1+/- mice. Overall, our results provide mechanistic evidence in support of a link between bodyweight and breast cancer development in BRCA mutation carriers and suggests that maintaining a healthy bodyweight or pharmacologically targeting estrogen or metabolic dysfunction may reduce the risk of breast cancer in this population.

show abstract

Breast cancer risk associated with BRCA1/2 variants in the Pakistani population

Cited by 7 publications

References 31 publications

Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review

Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review

Severe hypoglycemia and finger clubbing in a patient with a BRCA1 mutation in a solitary fibrous tumor: a case report

Obesity promotes breast epithelium DNA damage in BRCA mutation carriers

Contact Info

Product

Resources

About