Noureddine Boukhatem - Constitutional Oncogenetics

2 2This includes fallopian tubes and primary peritoneal cancers. BRCA-related ovarian cancers are associated with non-mucinous epithelial histology. Lynch syndrome may be associated with both non-mucinous and mucinous epithelial tumors. Clinical signs of Lynch syndrome should be monitored. Specific types of non-epithelial ovarian cancers and tumors may also be associated with other rare syndromes. Examples include an association between tumors of the sex cord with annular tubules and Peutz–Jeghers syndrome or Sertoli–Leydig tumors and DICER-related disorders.

3 3Two primary breast cancers include bilateral (contralateral) neoplasia or two (or more) distinct homolateral primary tumors diagnosed either synchronously or asynchronously.

4 4Close blood relatives include first-, second-, and third-degree relatives.

5 5For populations at increased risk due to founding mutations, inclusion requirements may be modified.

6 6For lobular breast cancer with a family history of diffuse gastric cancer, CDH1 gene testing should be considered.

7 7For dermatological manifestations, see section 14.1.1 for Cowden syndrome.

8 8For hamartomatous colon polyps in association with breast cancer and hyperpigmented macules of the lips and oral mucosa, an STK11 test should be considered (Peutz–Jeghers syndrome). Melanomas have been reported in some BRCA-related families.

9 9 Women should know their breasts and promptly report changes to their treating physicians. Periodic breast self-examination can help to recognize breast changes. In premenopausal women, the most informative self-examinations are those performed at the end of menstruation.

10 10 Randomized trials comparing the performance of clinical breast examination to its absence have not been conducted. The rationale for recommending a clinical breast examination every 6–12 months stems from the concern that breast cancer may develop in the time between examinations.

11 11The suitability of imaging modalities and their programming are still under investigation.

12 12Breast MRI is preferred because of the theoretical risk of radiation exposure in mutation carriers.

13 13Limitations of high-quality breast MRI include the need for a dedicated breast coil, the ability to perform an MRI-guided biopsy, experienced breast MRI radiologists and regional availability. Breast MRI is preferably performed on days 7–15 of the menstrual cycle in premenopausal women.

14 14In view of the high rate of occult neoplasia, particular attention should be paid to the sampling and pathological examination of the ovaries and fallopian tubes.

15 15 There are limited data to support breast imaging in men.

16 16 Whole skin and eye examinations are required for melanomas and investigation protocols for pancreatic cancer.

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