Added text to state that the lifetime risks of ovarian cancer are 5.2% inRAD51C mutation carriers, 5.8% in BRIP1 mutation carriers, and 12% inRAD51D mutation carriers; risk-reducing salpingo-oophorectomy (RRSO) may be considered for these patients upon completion of childbearing (cited Ramus et al. and Song et al. as references 122 and 123, respectively).
Revised text to state that an updated set of operational criteria for the diagnosis of Cowden syndrome based on a systematic literature review has been suggested and is currently utilized in the National Comprehensive Cancer Network (NCCN) guidelines. Also added text to state that the American College of Medical Genetics and Genomics (ACMG) suggests that referral for genetics consultation be considered for individuals with a personal history of or a first-degree relative with 1) adult-onset Lhermitte-Duclos disease or 2) any three of the major or minor criteria that have been established for the diagnosis of Cowden syndrome; detailed recommendations, including diagnostic criteria for Cowden syndrome, can be found in the NCCN and ACMG guidelines.
This section was renamed from Low- and Moderate-Penetrance Genes Associated With Breast and/or Ovarian Cancer.
Revised text to state that genes such as CHEK2 and ATM are associated with a 20% or higher lifetime risk of breast cancer; similarly, genes such as RAD51C, RAD51D, and BRIP1 are associated with a 5% to 10% risk of ovarian cancer; many of these genes are now included on multi-gene panels, although the clinical actionability of these findings remains uncertain and under investigation.
Added text to state that in a case-control study of 3,236 women with ovarian cancer, BRIP1mutations were more frequently associated with ovarian cancer risk (cited Ramus et al. as reference 12).
Revised text to state that RAD51C mutations have also been reported in Australian, British, Finnish, and Spanish non-BRCA1/2 ovarian cancer–only and breast/ovarian cancer families, and in unselected ovarian cancer cases. Also revised text to state that in addition to RAD51Cmutation carriers, there are other RAD51 paralogs, including RAD51B, RAD51D, and RAD51L1, that may be associated with breast and/or ovarian cancer risk.
Added text to state that in a case-control study of 3,429 ovarian cancer patients, RAD51Cand RAD51D mutations were more commonly found in ovarian cancer cases than in controls (cited Song et al. as reference 76).
Revised text to state that among the conflicting data is substantial evidence for a modest association between germline mutations in RAD51C and breast cancer and ovarian cancer.
Added text about a cohort study of 822 BRCA1/BRCA2 mutation carriers conducted in the Netherlands which did not observe a reduced risk of breast cancer after RRSO (cited Heemskerk-Gerritsen et al. as reference 81); in a response, investigators from the U.S. studies analyzed their data using the assumptions of the Dutch study but still observed an inverse association with RRSO and breast cancer risk (cited Chai et al. as reference 82). Also added text about a retrospective cohort of 676 women in which carriers having an RRSO at the time of breast cancer diagnosis had a reduced risk of breast cancer–specific mortality (cited Metcalfe et al. as reference 83).
Added text to state that despite discordant findings regarding RRSO and breast cancer risk in the existing literature, aggregate data suggest that there is a benefit, although the magnitude of this benefit may not be fully understood. Further prospective studies are needed to confirm these findings.
Revised text to state that emotional responses to a BRCA test result may not generalize to individuals who test without extensive pretest counseling; for example, individuals who are tested with population BRCA screening may not have a family history of cancer; although pretest genetic counseling is recommended, this is not always done when genetic testing is ordered by nongenetic providers (cited Armstrong et al. as reference 118) or directly through commercial companies.
ver historia personal en: www.cerasale.com.ar [dado de baja por la Cancillería Argentina por temas políticos, propio de la censura que rige en nuestro medio]//
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