Breast Cancer Prevention and Treatment by Lida A. Mina Anna Maria Storniolo Hal Douglas Kipfer Cindy Hunter & Kandice K. Ludwig

Author:Lida A. Mina, Anna Maria Storniolo, Hal Douglas Kipfer, Cindy Hunter & Kandice K. Ludwig
Language: eng
Format: epub
Publisher: Springer International Publishing, Cham

5.4 BRCA and Other Malignancies

Though germ line BRCA mutations are notorious for their markedly increased breast and ovarian cancer risks, cancers elsewhere have also been a major concern. In a cohort study of approximately 12 000 individuals from 700 families harboring the BRCA1 mutation, chosen from 30 sites across Europe and North America, carriers of the mutation were found to be at a markedly increased risk for several other malignancies. For instance, when compared to the cancer incidence rates of the general population, risk of pancreatic cancer and cancers of the uterine body and cervix were significantly more pronounced in the former group with relative risks of 2.26, 2.65, and 3.72 for pancreatic, uterine body, and cervix malignancies, respectively [19].

Likewise, BRCA2 mutation carriers have been found susceptible to a wide spectrum of malignancies not limited to breast or ovarian. A study performed on 173 families, chosen across Europe and North America, showed a statistically significant increase in GI and skin cancer risks in carriers of the BRCA2 mutation. Gallbladder and bile duct cancer risks were the most prominent in this subpopulation with an estimated relative risk of 4.97 (95 % CI = 1.50–16.52), followed by prostate cancer with an estimated RR of 4.65 (95 % CI = 3.48–6.22), pancreatic with 3.51 (95 % CI = 1.87–6.58), stomach with 2.59 (95 % CI = 1.46–4.61), and melanomas with 2.58 (95 % CI = 1.28–5.17). The relative risk of prostate cancer for men under the age of 65 was found to be a staggering 7.33 (95 % CI = 4.66–11.52) [4, 20], and almost 15 years following that study, guidelines have emerged promoting the screening for prostate malignancy in all male carriers of the BRCA mutations, beginning at 40 years of age [21]. And so it is a must that physicians keep in mind the versatility of the malignancies at risk whenever managing or following up with carriers of the BRCA mutations irrespective of gender or cancer status.

As mentioned earlier, it has become common knowledge that a positive BRCA mutation status is highly associated with breast and ovarian cancers. More so, BRCA mutations are accountable for a significantly higher lifetime risk of other primary cancers in their carriers such as the pancreas, uterus, prostate, and biliary tract. Other worthwhile observations that are yet to be as conclusively elucidated are those that associate particular phenotypic, molecular, and imaging characteristics of breast cancer with the BRCA mutation status to the point where, as we will see later on, a simple finding on MRI could justify a genetic testing for a BRCA mutation.

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