A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

Buys, Saundra S.; Sandbach, John F.; Gammon, Amanda; Patel, Gayle; Kidd, John; Brown, Krystal; Sharma, Lavania; Saam, Jennifer; Lancaster, Johnathan M.; Daly, Mary B.

doi:10.1002/cncr.30498

Cited by 328 publications

(291 citation statements)

References 37 publications

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“…Around 10% epithelial OC23 (84% of OC)24 and 9.8% triple-negative (TN) BC25 (13.5% of BC)25 unselected for FH have BRCA mutations. Testing is now advocated in them from 2015 in the UK 26.…”

Section: Discussionmentioning

confidence: 99%

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

et al. 2018

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“…Around 10% epithelial OC23 (84% of OC)24 and 9.8% triple-negative (TN) BC25 (13.5% of BC)25 unselected for FH have BRCA mutations. Testing is now advocated in them from 2015 in the UK 26.…”

Section: Discussionmentioning

confidence: 99%

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

et al. 2018

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“…From these variants, 51.5% occurred in BRCA genes, 9.7% in ATM , 11.7% in CHECK2 , and 9.3% in PALB2 . Te prevalence of pathogenic variants in BARD1 and RAD51 were statistically higher among women with triple-negative breast cancer [63]. It is important to recognize that BRCA1 , BRCA2 , PTEN , ATM , PALB2 , CHEK2 , RECQL , NBN as well as a large number of low penetrance variants together account for only ∼50% of breast cancer susceptibility [64].…”

Section: Other Potential Hereditary Breast Cancer Genesmentioning

confidence: 99%

BRCA1 and BRCA2 mutations and treatment strategies for breast cancer

Godet¹,

Gilkes²

2017

Integr Cancer Sci Therap.

136

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Breast cancer is a global burden with a woman's lifetime risk of developing breast cancer at 1 in 8. Although breast cancer is a disease that affects mostly women, the lifetime risk in men is about 1 in 1000. Most cases of breast cancer are associated with somatic mutations in breast cells that are acquired during a person's lifetime. In this scenario, the mutations are not inherited and they do not cluster in families. In hereditary breast cancer, the specific genetic factors involved will determine the inherited cancer risk. Inherited mutations in the BRCA1 or BRCA2 genes have been well-described, but mutations in ATM, CDH1, CHEK2, PALB2, PTEN, STK11, and TP53 also confer breast cancer risk. Understanding the functional significance of hereditary mutations has opened new paths for breast cancer prevention and is uncovering promising treatment strategies

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“…1,13,14 DNA for panel testing was obtained from a series of 3030 patients with pancreatic cancer from a Mayo Clinic pancreas cancer registry, and DNA sequence data for the same predisposition genes were obtained from publicly available Genome Aggregation Database (gnomAD) and Exome Aggregation Consortium (ExAC) reference control groups. 15,16 Associations between mutations in each gene and pancreatic cancer were evaluated to establish a defined subset of genes that confer susceptibility to pancreatic cancer.…”

mentioning

confidence: 99%

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

Hart

Polley

et al. 2018

JAMA

411

379

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IMPORTANCE Individuals genetically predisposed to pancreatic cancer may benefit from early detection. Genes that predispose to pancreatic cancer and the risks of pancreatic cancer associated with mutations in these genes are not well defined. OBJECTIVE To determine whether inherited germline mutations in cancer predisposition genes are associated with increased risks of pancreatic cancer. DESIGN, SETTING, AND PARTICIPANTS Case-control analysis to identify pancreatic cancer predisposition genes; longitudinal analysis of patients with pancreatic cancer for prognosis. The study included 3030 adults diagnosed as having pancreatic cancer and enrolled in a Mayo Clinic registry between October 12, 2000, and March 31, 2016, with last follow-up on June 22, 2017. Reference controls were 123 136 individuals with exome sequence data in the public Genome Aggregation Database and 53 105 in the Exome Aggregation Consortium database. EXPOSURES Individuals were classified based on carrying a deleterious mutation in cancer predisposition genes and having a personal or family history of cancer. MAIN OUTCOMES AND MEASURES Germline mutations in coding regions of 21 cancer predisposition genes were identified by sequencing of products from a custom multiplex polymerase chain reaction–based panel; associations of genes with pancreatic cancer were assessed by comparing frequency of mutations in genes of pancreatic cancer patients with those of reference controls. RESULTS Comparing 3030 case patients with pancreatic cancer (43.2% female; 95.6% non-Hispanic white; mean age at diagnosis, 65.3 [SD, 10.7] years) with reference controls, significant associations were observed between pancreatic cancer and mutations in CDKN2A (0.3% of cases and 0.02% of controls; odds ratio [OR], 12.33; 95% CI, 5.43–25.61); TP53 (0.2% of cases and 0.02% of controls; OR, 6.70; 95% CI, 2.52–14.95); MLH1 (0.13% of cases and 0.02% of controls; OR, 6.66; 95% CI, 1.94–17.53); BRCA2 (1.9% of cases and 0.3% of controls; OR, 6.20; 95% CI, 4.62–8.17); ATM (2.3% of cases and 0.37% of controls; OR, 5.71; 95% CI, 4.38–7.33); and BRCA1 (0.6% of cases and 0.2% of controls; OR, 2.58; 95% CI, 1.54–4.05). CONCLUSIONS AND RELEVANCE In this case-control study, mutations in 6 genes associated with pancreatic cancer were found in 5.5% of all0 pancreatic cancer patients, including 7.9% of patients with a family history of pancreatic cancer and 5.2% of patients without a family history of pancreatic cancer. Further research is needed for replication in other populations.

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A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes

Cited by 328 publications

References 37 publications

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

BRCA1 and BRCA2 mutations and treatment strategies for breast cancer

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

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