Читать книгу Constitutional Oncogenetics - Noureddine Boukhatem - Страница 18

For a diagnosed patient, the reasons for referral for an oncogenetic consultation, according to the NCCN, are as follows:

1 1) a person with ovarian cancer2;

2 2) a person diagnosed with breast cancer who meets one of the following criteria:– a mutation known in the family in a cancer predisposition gene,– diagnosed with breast cancer at an age ≤ 50 years,– a triple negative breast cancer (ER–, PR–, HER2–) diagnosed at an age ≤ 60 years,– two primary3 breast cancers in a single individual,– breast cancer at any age,– one or more relatives with breast cancer at an age ≤ 50 years,– one or more relatives with invasive ovarian cancer at any age,– two or more relatives4 with breast cancer, prostate cancer (Gleason score > 7 or metastatic) and/or pancreatic cancer at any age,– personal history of pancreatic cancer at any age,– belonging to a population at increased risk5,– male breast cancer;

3 3) an individual with metastatic prostate cancer (radiographic evidence or disease confirmed by biopsy);

4 4) a person of Ashkenazi Jewish descent with breast, ovarian or pancreatic cancer at any age;

5 5) a person with a personal history of one of the following and/or three or more affected family members (especially if diagnosed at ≤ 50 years of age and may include several primary cancers in one person): breast cancer, pancreatic cancer, prostate cancer (Gleason score > 7 or metastatic), melanoma, sarcoma, adrenal cortical carcinoma, brain tumors, leukemia, diffuse gastric cancer6, colon cancer, endometrial cancer, thyroid cancer, kidney cancer, dermatological manifestations7 and/or macrocephaly, or hamartomatous polyps of the gastrointestinal tract8.

DEFINITION.– Macrocephaly refers to an oversized head in infants. It is not a condition in itself, but may be a symptom of other conditions or complications. Macrocephaly is defined as head circumference greater than two standard deviations (SD) above the mean value for a given age and sex.

DEFINITION.– A polyp is a growth protruding from a mucous membrane.