Hence, the potential risk of heritable disease should be considered, especially in the HRPT2 mutated case for which unexpected mutation carriers are known to occur.
Women identified as mutation carriers are showered with resources for early detection and prevention.
Given the high risk and early onset of CRC, LS mutation carriers are good candidates for chemoprevention.
To reduce the risk of ovarian cancer, BRCA1/2 mutation carriers are advised to undergo salpingo-oophorectomy (RRSO) around the age of 40 years.
The detailed main features of mutation carriers are described in Table 1.
Upregulation of DNA repair genes has been related to resistance to radiotherapy, and BRCA1 mutation carriers are more sensitive to radiotherapy [34].
BRCA1 mutation carriers are more likely to achieve a pathological complete response with DNA-damage-based chemotherapy compared to non-mutation carriers.
All three detected βThr656Ile/ γPro674Ser mutation carriers are female.
Intriguingly, many mutation carriers are without any symptoms.
CHEK2 H371Y mutation carriers are more likely to respond to neoadjuvant chemotherapy than are non-carriers.
Mutation carriers are randomized to active drug or placebo at a 3 1 ratio.
