Kras

Associated malignancies and their penetrance

Associated malignancies and their penetrance

Gastric cancer (70%) Lobular breast cancer in females (39%) Colorectal cancer (70-85%) Endometrial cancer (40-60%) Ovarian cancer (12%) Stomach, uroepithelial, hepatobiliary, brain, small bowel cancers Colorectal cancer Ovarian stromal tumors Uterine and cervical cancer Gastrointestinal tract polyposis and cancers, breast and testis, cancers Thyroid cancer Breast cancer Gastric cancer Leukemia Breast cancer Gastric cancer

Colorectal carcinoma (100%) Ampullary carcinoma (30%) Desmoid tumors (10%) Gastric cancer with one at least diagnosed before the age of 50 years; or 2) three or more cases of documented diffuse gastric cancer in first-degree/second-degree relatives, independently of age of onset.[14] All gastric carcinomas from documented germline mutation E-cadherin carriers have been of the diffuse or linitis plastica type. The penetrance of germline CDH1 mutations is estimated to be approximately 70%.[7] The average age of onset of gastric cancer is 38 years, with occurrence in the 20s not unusual. The lesions are multifocal, spread submucosally without forming grossly visible exophytic mass, and are not associated with precancerous morphological or pathological abnormalities, rendering screening endoscopy and early diagnosis very difficult. Clinical diagnosis was often at an advanced incurable stage. Lobular breast carcinoma,[8,10,15] colorectal cancer, and prostate carcinoma[7,9,11] have also been documented in mutant E-cadherin gene carriers and may be a part of the malignant spectrum in HDGC. The estimated cumulative risk of gastric cancer by age 80 years was 67% for men [95% confidence interval (95% CI), 3999] and 83% for women (95% CI, 58-99). For women, the cumulative risk of breast cancer was 39% (95% CI, 1284). The combined risk of gastric cancer and breast cancer in women was 90% by age 80 years.[15]

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