Genetic Testing for Hereditary Breast and/or Ovarian Cancer Syndrome (BRCA1 or BRCA2)
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چکیده
Patient Selection Criteria Coverage eligibility for genetic testing for BRCA1 and BRCA2 mutations in cancer-affected individuals will be considered when ANY of the following criteria are met: Individual from a family with a known BRCA1/BRCA2 mutation Personal history of breast cancer and ≥1 of the following: o Diagnosed age ≤45 years o 2 primary breast cancers when 1st breast cancer diagnosis occurred age ≤50 years o Diagnosed age ≤50 years AND: ≥1 1st-, 2nd-, or 3rd-degree relative a with breast cancer at any age, or Unknown or limited family history o Diagnosed age ≤60 years with a triple negative (ER–, PR–, HER2–) breast cancer o Diagnosed any age AND ≥1 1st-, 2nd-, or 3rd-degree relative with breast cancer diagnosed ≤50 years o Diagnosed any age AND ≥2 1st-, 2nd-, or 3rd-degree relatives with breast cancer at any age o Diagnosed any age AND ≥1 1st-, 2nd-, or 3rd-degree relative with epithelial ovarian/fallopian tube/primary peritoneal CA o Diagnosed any age AND ≥2 1st-, 2nd-, or 3rd-degree relatives with pancreatic cancer or b prostate cancer at any age o 1st-, 2nd-, or 3rd-degree male relative with breast cancer o Ethnicity associated with deleterious founder mutations, eg, Ashkenazi Jewish descent c
منابع مشابه
BRCA1, BRCA2 and breast cancer: a concise clinical review.
Less than 5% of breast cancers are hereditary, but over 90% of hereditary breast cancers are caused by a mutation of either BRCA1 or BRCA2. The mutation may be inherited from either the maternal or the paternal side of the family. Clinicians should consider specific criteria in the family history to determine when a patient may benefit from counselling and appropriate testing. Testing is genera...
متن کاملDetection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing
Tumor suppressor genes BRCA1 and BRCA2 are the two main breast and ovarian cancer susceptibility genes, and their genetic testing has been used to evaluate the risk of hereditary breast and ovarian cancer (HBOC). While several studies have reported the prevalence of BRCA1 and BRCA2 mutations in Japanese populations, there is insufficient information about deleterious mutations compared with wes...
متن کاملجهش های ژنتیکی جدید در ژن های اصلی سرطان پستان (BRCA1/BRCA2) در زنان ایرانی مبتلا به سرطان پستان زودرس
Background: Breast cancer is the most common female malignancy and the main cause of death in mid-aged women. Genetic germ line mutations in BRCAI/BRCA2 in Iranian women with breast or ovarian cancer have not been yet reported. Materials and methods: Clinical data, family history and blood samples were obtained from 83 females aged less than 45 years with primary breast cancer in order to su...
متن کاملNext-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.
Genetic testing for hereditary breast and/or ovarian cancer mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the BRCA1 and BRCA2 genes. We explored a more efficient genetic screening strategy based on next-generation sequencing of the BRCA1 and BRCA2 genes in 210 hereditary breast and/or ovarian cancer patients. We first validated this approach in a...
متن کاملClinical considerations in the management of individuals at risk for hereditary breast and ovarian cancer.
BACKGROUND Hereditary predisposition to breast and ovarian cancer, most commonly due to germline mutations in BRCA1 and BRCA2, has been recognized for many years. The optimal clinical management of individuals with such a predisposition is not yet completely defined. METHODS The current literature regarding the clinical management of individuals at risk for hereditary breast and ovarian cance...
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