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Home Criteria Obstetrics & Gynecology Initial Screening for Hereditary Breast and Ovarian Cancer Syndrome


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Initial Screening for Hereditary Breast and Ovarian Cancer Syndrome Print E-mail
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Written by G. Firman MD   
Thursday, 04 February 2016 04:53


The initial screening for hereditary breast and ovarian cancer syndrome should include specific questions about the patient's personal and family history of breast and ovarian cancers, risk assessment, education, and counseling.

The patient may choose to include genetic testing after appropriate counseling. Two sets of clinical criteria have been developed to determine which patients would benefit from genetic risk assessment. The first group includes women whose chance of having an inherited predisposition to breast and ovarian cancers is greater than 20 to 25 percent. Genetic risk assessment is recommended in these patients. The second group includes women whose chance of having an inherited predisposition to breast and ovarian cancers is greater than 5 to 10 percent. Genetic risk assessment may be helpful for these patients. Patients who have been diagnosed with high-grade serous ovarian cancer, primary peritoneal cancer, or fallopian tube cancer may also benefit from genetic risk assessment because of the high prevalence of BRCA1 or BRCA2 mutation in these populations.



Criteria for Genetic Risk Assessment

A. Patients with more than a 20 to 25 percent chance of having an inherited predisposition to breast and ovarian cancers, and for whom genetic risk assessment is recommended. Criteria:

  • Women with a personal history of breast and ovarian cancers*
  • Women with ovarian cancer* and a close relative** with ovarian cancer, premenopausal breast cancer, or both
  • Women with ovarian cancer* who are of Ashkenazi Jewish ancestry
  • Women 50 years and younger with breast cancer and a close relative** with ovarian cancer* or male breast cancer at any age
  • Women of Ashkenazi Jewish ancestry in whom breast cancer was diagnosed at 40 years or younger
  • Women with a close relative** with a known BRCA1 or BRCA2 mutation

B. Patients with more than a 5 to 10 percent chance of having an inherited predisposition to breast and ovarian cancers, and for whom genetic risk assessment may be helpful

  • Women with breast cancer at 40 years or younger
  • Women at any age with ovarian cancer, primary peritoneal cancer, or fallopian tube cancer of high grade, serous histology
  • Women with bilateral breast cancer (particularly if the first case of breast cancer was diagnosed at 50 years or younger)
  • Women with breast cancer at 50 years or younger and a close relative** with breast cancer at 50 years or younger
  • Women of Ashkenazi Jewish ancestry with breast cancer at 50 years or younger
  • Women with breast cancer at any age, and two or more close relatives** with breast cancer at any age (particularly if at least one case of breast cancer was diagnosed at 50 years or younger) 
  • Unaffected women with a close relative** that meets one of the previous criteria


* Cancer of the peritoneum and fallopian tubes should be considered a part of the spectrum of the hereditary breast and ovarian cancer syndrome.

** Close relative is defined as a first-degree relative (mother, sister, daughter) or second-degree relative (grandmother, granddaughter, aunt, niece).



References:

  1. Hall MJ, Obeid EI, Schwartz SC, Mantia-Smaldone G, Forman AD, Daly MB. Genetic testing for hereditary cancer predisposition: BRCA1/2, Lynch syndrome, and beyond. Gynecol Oncol. 2016 Mar;140(3):565-74. [Medline]
  2. Sheppard VB, Mays D, LaVeist T, Tercyak KP. Medical mistrust influences black women's level of engagement in BRCA 1/2 genetic counseling and testing. J Natl Med Assoc. 2013 Spring;105(1):17-22. [Medline]
  3. Lambert M. ACOG Guidelines for Managing Hereditary Breast and Ovarian Cancer Syndrome. Am Fam Physician. 2009 Dec 15;80(12):1505-1507.




Created Mar 03, 2017.

Last Updated on Wednesday, 22 March 2017 13:36
 

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