{"id":950,"date":"2020-05-21T16:45:54","date_gmt":"2020-05-21T13:45:54","guid":{"rendered":"https:\/\/www.ioannagalanou.gr\/heredity\/"},"modified":"2023-07-26T16:18:46","modified_gmt":"2023-07-26T13:18:46","slug":"heredity","status":"publish","type":"page","link":"https:\/\/www.ioannagalanou.gr\/en\/heredity-main\/heredity\/","title":{"rendered":"Heredity"},"content":{"rendered":"

Almost 13% of breast cancers are due to a hereditary predisposition associated with high or moderate penetrance of genes. The 2 genes most responsible for breast cancer are the BRCA1 gene on chromosome 17 and the BRCA2 gene on chromosome 13. Mutations in these genes place a high risk of developing breast cancer or ovarian cancer. Gene mutations in the BRCA2 gene are responsible for the increased risk of male breast cancer. Other genes thought to be responsible for a 1.5-7.5 greater risk of developing breast cancer compared to the general population are CHEK2, BRIP1, MSH6, BARD1,ATM, RAD51D and PALB2.<\/p>\n

The risk of developing breast and ovarian cancer in 80-year-old women with BRCA1 and BRCA2 mutations are listed in the table below (Kuchenbaecker KB, PEOPLE 2017) (3)<\/p>\n

(3) (Kuchenbaecker KB, JAMA 2017)<\/p>\n\n\n\n\n\n
<\/td>\nMUTATION BRCA1<\/td>\nMUTATION BRCA2<\/td>\n<\/tr>\n
BREAST CANCER RISK<\/td>\n72%<\/td>\n69%<\/td>\n<\/tr>\n
OVARIAN CANCER RISK<\/td>\n44%<\/td>\n17%<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

There are 4 levels of risk for breast or ovarian cancer:<\/p>\n

Low<\/strong><\/p>\n

Moderate<\/strong><\/p>\n

High with no confirmed genetic mutation<\/strong><\/p>\n

High with confirmed genetic mutation<\/strong><\/p>\n

CRITERIA FOR ONCOLOGICAL GENETIC TESTING<\/p>\n

Oncological genetic testing is necessary when the woman has at least 1 of the following criteria:<\/p>\n

Personal or family history<\/p>\n

    \n
  1. A mutation in one of these genes (BRCA1, BRCA2, P53,PTEN etc)<\/li>\n
  2. Man with breast cancer<\/li>\n
  3. Woman with breast and ovarian cancer<\/li>\n
  4. Woman with breast cancer \u02c2 36 years old<\/li>\n
  5. Woman with triple negative breast at age \u02c260 years<\/li>\n
  6. Woman with high-grade serous ovarian cancer at any age<\/li>\n
  7. Woman with bilateral breast cancer \u02c250 years old<\/li>\n
  8. A 50-year-old woman with breast cancer and at least 1 first-degree relative with:
    \n\u2022 Breast cancer \u02c250 years old
    \n\u2022 Ovarian cancerborderlineat any age
    \n\u2022 Bilateral breast cancer
    \n\u2022 Breast cancer in a man<\/li>\n
  9. A woman with breast cancer \u02c350 years of age and a family history of breast or ovarian cancer in 2 or more first-degree relatives (one of whom must be first-degree with her).<\/li>\n
  10. A woman with ovarian cancer and at least 1 first-degree relative
    \ndegree with
    \n\u2022 Breast cancer 50 years old
    \n\u2022 Ovarian cancer at any age
    \n\u2022 Bilateral breast cancer
    \n\u2022 Breast cancer in men
    \nFirst degree of kinship (parents, siblings, children) with the specific characteristics. On the father’s side, we must also take into account second-degree relatives (grandmother, aunt).
    \nThe genetic test should be done in principle on the family member who had the cancer. The test results can be the following:
    \n\u2022 Finding the gene mutation
    \n\u2022 Failure to find a gene mutation without excluding its presence, or finding a mutation of uncertain significance that we cannot speak of a risk.<\/p>\n

    In case of finding the gene mutation, the genetic test could also be carried out by the other family members from the age of 18 and over. In the case of a mutation of uncertain significance, there is no need for family members to proceed with genetic testing, except for research purposes.<\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Almost 13% of breast cancers are due to a hereditary predisposition associated with high or moderate penetrance of genes. The 2 genes most responsible for breast cancer are the BRCA1 gene on chromosome 17 and the BRCA2 gene on chromosome 13. Mutations in these genes…<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":955,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-950","page","type-page","status-publish","hentry"],"yoast_head":"\nHeredity - ioannagalanou.gr<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ioannagalanou.gr\/en\/heredity-main\/heredity\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Heredity - ioannagalanou.gr\" \/>\n<meta property=\"og:description\" content=\"Almost 13% of breast cancers are due to a hereditary predisposition associated with high or moderate penetrance of genes. 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