How to diagnose such a condition

Genetic counseling and risk assessment for breast cancer

Today, familial breast cancer cases are identified by evaluation of a family pedigree showing breast and ovarian cancer cases. Presymptomatic testing for pathogenic mutations in BRCA1 and BRCA2 has become widespread during the last decade. It is now used in counseling families with a strong history of breast and ovarian cancers and for estimating the cancer risk of healthy family members. Mutation carriers are recommended intensive surveillance programs of breast and ovaries and offered prophylactic surgery. Prophylactic mastectomy has been shown to lower the risk of breast cancer among mutation carriers.

Furthermore, the women are offered prophylactic bilateral salpingo-oophorectomy (BSO) after child-bearing age to further reduce their risk of developing breast and ovarian cancers. Just as important is the fact that if no mutation is detected in a family member of a known BRCA mutation-carrying family, the individual’s risk of cancer is equal to that of the general population. Genetic testing of BRCA1 and BRCA2 is often laborious and complex because of the size of the genes. Though newer methods such as targeted NGS have improved the sensitivity, a fraction of the mutations likely remains undetected.

Consequently, the cancer-risk assessment becomes less accurate because of the lack of presymptomatic testing options. In addition, unclassified sequence variants are often detected in the coding or non-coding regions of BRCA1 and BRCA2. The clinical significance of such variants is often uncertain and therefore remains a challenge in counseling and clinical management. Confident classification of these variants and identification of more high-risk alleles would provide a more accurate risk assessment and improve genetic counseling dramatically for this group of families.

Diagnostic options for CRC

The diagnostic basis of hereditary CRC is from clinical findings, family history, genetic tests, and diagnostic images.

1. Physical examination: Should include evaluation of adenopathies mainly the areas surrounding the section of the body where the colon is supposed to be.

2. Total colonoscopy: It is a gold standard technique since it allows the resection and biopsy of the lesions observed during the procedure. 

3. Family history: Most cases of hereditary CRC are inherited from an autosomal dominant pattern which means that carrying even one copy of the gene from either parent increases the odds of developing CRC. When taking family histories with inherited diseases in mind, mostly only first-degree relatives are considered.

4. Molecular and genetic testing:  Genomic sequencing techniques are now being used to see whether patients exhibit genetic variations that point towards risk of developing CRC.

5. Diagnostic Imaging: It is suggested to perform computed tomography with contrast of chest, abdomen, and pelvis to estimate the stage of the disease to all patients with colorectal cancer.

*I only found these from journal articles and I, myself had a hard time understanding them. I made them very simple. I will add more if I find some more references that I can use.

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