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Updates found with 'lynch family'

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Updates found with 'lynch family'

Decoding Lynch syndrome -- Colorectal cancer(CRC)Lynch syndrome is the most common cause of inherited Colorectal cancer (CRC-large intestine cancer). It constitutes 3% of all newly diagnosed colorectal cancer burden.In lynch syndrome there is germline mutation in DNA mismatch repair (MMR) genes.It has a autosomal dominant pattern of inheritance.MLH1; MSH2; MSH6; PMS-2 are genes that are commonly mutated which results in changes in repetitive nucleoside sequences known as microsatellite.These changes in microsatellites ie microsatellite instability (MSI) result in change of expression of genes involved in cell growth.MSI is not specific for Lynch syndrome but can be seen in other sporadic CRC patients.Progression of adenoma to carcinoma in these families and patients takes 3 years as compared to a decade or longer in sporadic cancers.Screening for Lynch syndrome is done using IHC or MSI testing from tumor tissue but are confirmed by gene sequencing in somatic or germline specimen.Life time risk of developing CRC in lynch family is 10-47% depending on the gene mutated.CRC in lynch involve usually right colon and the survival in patients with lynch syndrome developing CRC is better.Screening strategy for lynch family include Colonoscopy (every 1-2 years) beginning 5 years prior to the age of the earliest diagnosed CRC patient in family. Prophylactic hysterectomy and bilateral salphingo-oopherectomy after age of 40 years is recommended for preventing endometrial cancer.
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Genetic testing for breast and ovarian Cancer1)what is genetic testing?Answer:-Genetic make up of an individual is like a house map.Any abnormality in the house map will lead to a faulty construction of the house, similarly any abnormality in the gene may lead to disease. This abnormality in genes is referred to as mutations.There are tests which can find out these specific mutations.2) Are there genes identified which increase risk of breast and ovarian cancer?Answer:There are several genes but the most well known and commonly tested genes are BRCA1 and BRCA2.several other candidate genes have been identified and research in this area is ongoing.3)Who should have genetic test for breast and ovarian cancer?Answer:we offer genetic test for women who have strong family history of breast or ovarian cancer. which is as follows:-a) two or more relatives with breast or ovarian cancer; especially if diagnosed at age <50 years.b) close family member with cancer of both breast or breast and ovarian cancer in same individual.c) if you have family members from different generation with breast or ovarian cancer.note: STRONG FAMILY HISTORY DOES NOT MEAN YOU HAVE ABNORMAL GENE AND INFACT MOST WOMEN WITH FAMILY HISTORY DO NOT HAVE THESE MUTATIONS.it is important to consult your doctor who will work out your individual risk prior to ordering these tests and discuss the pros and cons of the test as well.Q how can we lower chances of getting cancer if one turn out BRCA positive?Answer:a) getting screened for breast lump using MRI or mammogram as advised by your doctorb) breast and ovaries removal after completing Your family.c) there are tablets available as wellwhich option will be best for an individual is decided on case to case basis by treating doctor and individual preference.
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