Hereditary breast cancer-ovarian cancer syndrome

　　1. Etiology

　　The hereditary breast and ovarian cancer syndrome is an autosomal dominant inheritance with variable penetrance. In 1991, Narod and others confirmed the susceptibility gene for hereditary breast and ovarian cancer and further localized the gene to 17q12-23. In 1992, this gene was named BRCA1. The International Breast Cancer Linkage Consortium confirmed the relationship between BRCA1 and hereditary breast and ovarian cancer, and localized the BRCA1 gene to 17qD17S250-17S588. In July 1994, the Skolnick research team completed the localization cloning of BRCA1. BRCA1 is located at 17q17S1321-D17S1325, consisting of 22 coding exons, occupying 100kb of genomic DNA, with a transcript product of 7.8kb, encoding a protein containing 1863 amino acids. The amino terminal of the BRCA1 protein has a zinc finger structure, suggesting a transcriptional regulatory function.

　　2. Pathogenesis

　　In patients with clear hereditary breast and ovarian cancer syndrome, the pathological classification is mainly serous cystadenocarcinoma. The role and regulatory mechanism of BRCA1 in tumor occurrence are not yet fully understood. It is currently believed that BRCA1 is a tumor suppressor gene that encodes tumor suppressor proteins, regulating tumor growth and inhibiting tumor growth. However, most early-onset familial breast and ovarian cancers have BRCA1 germline gene mutations. BRCA1 carriers have a 73% risk of breast cancer and a 29% risk of ovarian cancer by the age of 50. Individuals with the BRCA1 gene have a higher risk of developing breast and ovarian cancer when a gene mutation occurs, and BRCA1 expression decreases, making them more susceptible to related cancers.

　　The actual expression of BRCA1 in populations of the East and West, influenced by various geographical and ethnic factors, is also directly related to the growth, development, and differentiation of sex hormones, ovarian tissues, and cells. Therefore, there is a need for further in-depth research.

　　Definite hereditary breast-ovarian cancer syndrome patients, in pathological classification, are mainly serous cystadenocarcinoma. The role and regulatory mechanism of BRCA1 in tumor occurrence are not yet fully understood. It is currently believed that BRCA1 is a tumor suppressor gene that encodes tumor suppressor proteins, which down-regulate tumor growth and play a role in inhibiting tumor growth. However, most early-onset familial breast and ovarian cancers have BRCA1 germline gene mutations. Common complications include: infection, tissue adhesion.

　　First, clinical manifestations:An important feature is early onset of disease. According to its definition, the syndrome is characterized by: in families with a tendency towards breast cancer, there are two or more patients with ovarian cancer among breast cancer patients or their first or second-degree relatives, and the following clinical characteristics:

　　1, Breast cancer in the family often presents with early onset, generally

　　2, The age of onset of ovarian cancer patients in the family is also early, generally 49.6-55.3 years old, with an average of 52.4 years (the average age of onset of sporadic ovarian cancer is 59 years).

　　3, There may be other types of tumor patients in the family, such as endometrial cancer, digestive tract cancer, prostate cancer, etc.

　　4, The pathological type of ovarian cancer is most common in serous papillary cystadenocarcinoma.

　　Second, diagnostic points

　　1, Detailed genealogy analysis, the complete medical records of the family should include the age of onset of malignant tumors such as ovarian cancer, breast cancer, colon cancer, endometrial cancer, and pathological reports or death certificates.

　　2, Early onset of disease, most breast cancers

　　3, The clinical features of breast cancer and ovarian cancer.

　　4, The detection of BRCA1 and BRCA2 mutation genes can be positive.

　　Due to the deep location of ovarian cancer in the pelvis, the lesions are not easily discovered in the early stage. Once cancerous tumors occur, they grow rapidly as well. There is currently no effective early diagnostic method. If BRCA1 screening can be carried out for individuals with a hereditary family history, it will be helpful for the early detection of ovarian cancer and other diseases.

　　Epidemiological hereditary breast-ovarian cancer syndrome, the average age of ovarian cancer onset in the general population is 59 years, while in HBOCS families, the average age of onset is 52 years. Most agree that the risk age of at least some ovarian cancer families is prematurely. Women with breast cancer carrying the BRCA1 mutation gene have a 25% risk of developing cancer in the opposite breast within 5 years of diagnosis, and 64% by the age of 70. The lifetime risk of developing ovarian cancer is 1.4% in the general population, 7% if there is one first-degree relative (mother, sister, daughter) affected, and the probability of obtaining hereditary ovarian cancer syndrome is 3% for those with the syndrome. The lifetime risk of ovarian cancer for those with the syndrome is at least 40%. The incidence of breast cancer and (or) ovarian cancer in individuals with hereditary breast-ovarian cancer syndrome increases, and the probability of a first-degree relative developing ovarian cancer is 50%.

　　The prognosis of hereditary ovarian cancer syndrome is relatively good, the 5-year survival rate of stage III and IV hereditary ovarian cancer syndrome is 67%, and the 5-year survival rate of non-hereditary ovarian cancer is 17%. One of HBOCS, BRCA1, is related to the prognosis of ovarian cancer patients, and the average survival time of patients with late-stage ovarian cancer carrying BRCA1 gene mutations is longer.

　　1, Vaginal ultrasound examination:It can measure the size and shape of the ovary. For women with HBOCS tendency, if the ovary is found to be enlarged, it should be taken seriously, and timely laparoscopy and biopsy should be performed if necessary to early detect ovarian cancer. Vaginal ultrasound examination is more sensitive to detecting smaller, asymptomatic ovarian masses.

　　2, Color Doppler ultrasound blood flow imaging:Determining the blood supply and blood flow after the examination of the ovarian blood supply helps to differentiate between benign and malignant ovarian tumors, mainly measured by pulse index (PI), with a PI value of 1.0 as the boundary, if less than this value, it indicates malignancy.

　　3, Serum CA125 measurement:Ovarian epithelial cancer, especially ovarian serous cancer, more than 80% of CA125 values are elevated (>35U/ml), and 90% are elevated in advanced cases. It is generally recommended to detect serum CA125 once a year to improve the detection rate of ovarian cancer in women with HBOCS tendency.

　　Histopathological examination. Mutated genes BRCA1 and BRCA2 are positive results.

　　First, food therapy recipe

　　1, Pancreatic Cancer Remedy:1 set of pig pancreas, wash it, steam it with wine, and cut and eat.

　　2, Sunflower Flower:2 sunflower dishes, each with 30 goji berries, 10 walnuts, 30 grams of meat slices, and an appropriate amount of seasoning, steamed and eaten.

　　3,逍遥馒头蟹(Large Mantis Shrimp):Boil the mantis shrimp and eat the meat, grind the shell into powder, take 2 grams per day, 3 times a day, and swallow.

　　4, Solanum nigrum Sugar Tea:15 grams of Solanum nigrum, 30 grams of flintstone, boil the juice and add sugar to drink as tea.

　　5, Sunflower Hawthorn Pork:Sunflower dish 60 grams, boil to extract the liquid, and then use the liquid to cook pork 60 grams and hawthorn 30 grams.

　　6, Sea Horse Tofu Salad

　　Ingredients: 3 grams of sea horse, 1 piece of tofu, 25 grams of minced meat, 10 grams of kelp, 1 scallion, an appropriate amount of sesame oil, salt, and monosodium glutamate.

　　Preparation: Grind the sea horse into powder and set aside. Wash the scallion and cut it into chopped scallion. Soak the kelp, wash it, cut it into strips, and cook it in advance. Heat a small amount of oil in a pan, stir-fry the minced meat until done and put it on a plate. Sprinkle the sea horse powder, minced meat, chopped scallion, and an appropriate amount of salt, monosodium glutamate, and sesame oil on the tofu, mix well.

　　Effect: Kidney-nourishing and anti-cancer. Sea horse for kidney-nourishing, kelp for softening hardness and reducing swelling, both of which contain anti-cancer components, can prevent and treat breast cancer caused by ovarian dysfunction in women.

　　7, Iron Leaf and Red Date Soup

　　200 grams of iron leaf, 10 red dates. Wash the two ingredients and put them in a pot, add an appropriate amount of water, and boil to extract the juice. Take one dose per day, divided into 3 times, for a course of 30 days.

　　8. Scutellaria root and quail eggs

　　60 grams of scutellaria root, 4 quail eggs. Boil scutellaria root and quail eggs in water until the eggs are fully cooked. Remove the scutellaria root. Take one dose daily, eat the egg, and continue for 15 days.

　　9. Dragon pearl tea

　　15 grams of solanum nigrum seed, 30 grams of diatomaceous earth, appropriate amount of brown sugar. Boil solanum nigrum seed and diatomaceous earth in water, remove the residue, and add brown sugar. Drink as tea daily.

　　10. Cuttlefish and white fungus

　　60 grams of cuttlefish meat, 10 white fungus, appropriate amount of seasoning. Wash the two ingredients, add them to a pot with an appropriate amount of water, and cook until the meat is tender. Add seasoning and it is ready. Take one dose daily, take the soup and eat the meat.

　　11. Motherwort boiled eggs

　　50 grams of motherwort, 2 eggs. Wash the motherwort and cut it into pieces, then boil it with eggs and water. After the eggs are cooked, remove the shell and cook for a few more minutes. Take one dose daily, eat the egg and drink the soup.

　　2. Diet taboos

　　1. Eat more foods with anti-breast cancer effects and drink more green tea.

　　Eat more sea horse, horseshoe crab, cobra meat, spermaceti, toad meat, kelp, asparagus, and gelidium.

　　2. Consume fish fatty acids.

　　Eat at least three servings (90 grams) of deep-sea cold-water fish daily, such as mackerel, salmon, flatfish, mackerel, cod, sardine, etc.

　　Take 2 to 10 grams of fish oil capsules daily.

　　3. Eat more foods that are beneficial for the physiological cyclical regulation of ovarian function, such as abalone, quail eggs, cuttlefish, octopus, quail, black-bone chicken, abalone, shark fin, bird's nest, etc.

　　4. For bleeding, eat shark fin, abalone, black fungus, shark, mushroom, mushroom, seaweed, broad bean.

　　5. Eat dandelion, melon, water chestnut, black plum, Job's tears, fennel fruit, burdock, oyster, turtle, sea horse.

　　6. For edema, eat sturgeon, ulva, adzuki bean, corn, hilsa, loach, clam, carp, pancreas fish, duck meat, lettuce, coconut milk.

　　7. For low back pain, eat lotus seeds, walnuts, plums, Job's tears, chive, chestnut, jellyfish, taro, turtle, bee milk, horseshoe crab, and blue crab.

　　8. Women with excessive leukorrhea should eat cuttlefish, light meat, oyster, winkle, clam, turtle, sheep pancreas, sparrow, cowpea, white fungus, walnut, jellyfish, lotus seed, coix seed, celery.

　　1. Treatment

　　1. Surgical treatment

　　(1) Preventive Oophorectomy: Some authors believe that preventive oophorectomy is an important means to reduce the incidence of ovarian cancer. It is recommended to be performed after childbirth or no later than 35-40 years old. It is believed that this can not only prevent ovarian cancer but also prevent the occurrence of breast cancer. Generally, a total hysterectomy and bilateral salpingo-oophorectomy are performed, and the ovaries can also be selectively removed during other gynecological surgeries. Postoperative long-term use of female hormone replacement therapy is required, but there are also studies showing that primary peritoneal cancer can occur after preventive oophorectomy, with peritoneal serous papillary carcinoma occurring outside the ovaries but with pathological changes similar to ovarian cancer. The United States Cancer Genetic Research Association recommended (1997) that preventive oophorectomy surgery is one of the feasible methods for carriers of the BRCA1 mutation gene, but attention should be paid to the fact that cancer can still occur after preventive oophorectomy. To date, the obtained data have not shown that preventive surgery can significantly reduce the risk of cancer transformation.

　　(2) Preventive Mastectomy: The American Cancer Genetic Research Association recommends that for patients carrying BRCA1 and BRCA2 mutation genes, preventive mastectomy is also one of the feasible methods, but like preventive oophorectomy, attention should also be paid to the possibility of cancer recurrence after surgery, and it has not been confirmed whether it reduces the risk of breast cancer.

　　2. Oral Contraceptives:Oral contraceptives are also a strategy for preventing ovarian cancer. Some studies have shown that oral contraceptives can slightly increase the risk of breast cancer, but other studies have shown that oral contraceptives can reduce the risk of ovarian cancer in women carrying BRCA1 or BRCA2 mutation genes, and the risk of ovarian cancer decreases more significantly with the extension of medication time.

　　3. Application of Oral Contraceptives:Oral contraceptives can reduce the risk of ovarian cancer in women with胚系BRCA1 mutations. One of the theories of ovarian cancer occurrence is 'continuous ovulation', because of repeated ovulation, trauma is caused on the surface of the ovary, and during the repair process, epithelial cells proliferate and become abnormal, leading to excessive proliferation and/or the formation of inclusions, inclusion cysts, which become the pathological basis for the formation of ovarian cancer. Oral contraceptives can inhibit ovulation, reduce ovarian surface trauma and epithelial cell proliferation, and reduce the formation of inclusion cysts, thereby reducing the risk of ovarian cancer. Long-term use of oral contraceptives can reduce the risk of ovarian cancer by 60%, so it is speculated that oral contraceptives can also reduce the incidence of ovarian cancer in carriers of BRCA1.

　　4. Pregnancy:During pregnancy, the endocrine status can protect the ovaries, and infertile women lack this protection, so the risk of ovarian cancer increases. However, it does not take effect with a single pregnancy, and multiple pregnancies are also contradictory to family planning, so it is not a good strategy for BRCA1 gene mutation carriers.

　　5. Others:Although some methods to inhibit ovulation have been proposed, they are not reliable.

　　II. Prognosis

　　The prognosis of hereditary ovarian cancer syndrome is good, the 5-year survival rate of hereditary ovarian cancer syndrome in stage III and IV is 67%, and the 5-year survival rate of non-hereditary ovarian cancer is 17%. HBOCS is associated with the prognosis of BRCA1 and ovarian cancer patients, and the average survival time of patients with advanced ovarian cancer carrying BRCA1 gene mutations is longer.